Tuesday, April 15, 2014

Tomorrow Might be Too Late



(Photo: www.nbc29.com  )


 
          Yesterday, I drove a relative to a major urban medical center for some specialized health care. We were there for most of the day, and there was a great deal of waiting involved.  At one point, I saw a large family with a boy who reminded me a bit of Daniel, at least physically.   He looked to be about ten, and his family had been to one of the clinics and were making their way through the maze that is the medical center, for the long trip home.  The sprawling hospital complex is adjacent to a number of trains, and the boy wanted to go to see the trains. Of course, the boy should be able to take twenty minutes to see the trains come in and go out. Of course, the family wishes to get out of the city and have the bulk of their own long travel done before rush hour hits.  So many times, we as adults, forget how fragile our lives and the lives of our children really are.  So many times, we are embroiled in what we think is the real work of the world, when in fact, the stop and small the roses moments our family member needs, might be their last chance.  The boy kept asking.    Eventually, he said, "Can't we just look at the trains ?"   They kept walking.   I wanted to cry. I remembered in that moment, times when Daniel had exactly that tone.  There were so many things he wished to do, and although we did some of them, there were many things as simple as trains at the medical center that were left for some future time, and then, of course, his future, and our own was simply suspended.

       I am not suggesting we turn all of our children into indulged brats, but I am suggesting that when time is all you have to lose, that we hear their cries to do a particular thing, and try to make time when we can.  Tomorrow might be too late.





Steven Curtis Chapman                                  More to This Life

    

Saturday, April 5, 2014

Olivia's Heart Project

                




  I first saw a picture of Olivia Hoff on a webpage which memorialized the sons and daughters, sisters and brothers who passed  due to QT syndromes, a sudden and unexpected heart rhythm disturbance, often in an otherwise healthy person, which all too often produces a sudden death.   Olivia was only fourteen years old at her passing in 2004.

    Daniel joined Olivia on that same memorial page in 2008.   As I looked at each of the pictures of these people, I felt sorrow.  I knew only too well that the departure of each of them will leave a permanent hole in their families, an awful lot like a sudden sink hole.  Regardless of the faith of these families, the loss from their families lives on Earth will be palpable and permanent.

     I was fortunate however to have contact this year with Olivia's mother,  Corinne Ruiz.   Corinne has worked hard to create a living and working memorial to Olivia which may well help to prevent some of the additional losses of children, teens and adults to undiagnosed heart rhythm disturbances.

    This is the story of what happened to Olivia, in her mother's words.

     Corinne Ruiz founded Olivia's Heart Project, which exists to raise awareness of the 400,000 deaths each year from a sudden cardiac death.  10,000 of these annual deaths are children.   Corinne works hard to educate the public, be an advocate for learning CPR, and also to place AEDs (automated emergency defibrillators) in as many public places as possible.  She is also a co-organizer of heart screenings in her community and beyond.   An arrhythmic death is not a heart attack. It is a disturbance in the rhythm of the heart which may be due to malformation, an undiagnosed physical condition, or sometimes only an episodic or hard to catch alteration in an EKG.


      Olivia's Heart Project


        I have tried to bring awareness of this issue following Daniel's passing.   I think that Olivia's mom, Corinne has done an incredible job in terms of bringing awareness of this issue and of bringing AEDs starting in her own community,and reaching beyond.    I know that Olivia would be so proud of her, just as I am sure Olivia's brother is also.


Olivia's Heart Project Newsletter for April, 2014---  Good information here 






Thursday, March 20, 2014

A Spring Letter to Daniel

 





          Daniel,

              I often go long stretches of time in acceptance of God's plan that you were called to Him and the rest of us are to remain here on Earth for some undetermined time.   I take great comfort in that you are at home with God and that my father, whom you knew well here, is with you, and that there are other relatives you did not know here on Earth who are there and who care about you.   Most of the time I am well, and I busy myself with the work on your animals, and the work of launching your brothers and sister from our nest.   We still mention you and laugh at things you said and did while you were here.
            Every once in awhile I see a child, or a child sees me, and sometimes they seem to seek me out.  Sometimes it's a child who has that inexplicable something that you so clearly had.  It was an energy, an exuberance, a joy of living that most people, even most children do not have.  You always enjoyed everything, from a Summer Day, to a quick rain, or an ice cream cone, almost as if you had read about it, knew all about it, but had not yet experienced it for yourself.  In those moments where one of those children talks to me, or sometimes even hugs me, I am reminded that the energy that you had returns to God, but that there is still joy and wonderful expectation in the world.  I also take these encounters to mean that God is allowing you to send greetings in the form of a child who is already here on Earth.
             Sometimes, that same hurt that came in the beginning sneaks up on me.  Sometimes, my soul feels raw and so terribly deprived that chronologically speaking, I have not seen you in the flesh for five years and four months.  In so many ways it seems as if we just spoke, and then in others, so much has happened that I want to share with you, even though, I know that you know most of it.
            I just want to tell you that I really appreciate seeing you and Dad in dreams.  I am doing my best here. Sometimes, with all the strife in the world, I am almost relieved that you are safe at home, and then other times, I feel a dull ache that so many things I hoped you would do on Earth will not happen here.  Poor Earth, Daniel went home.   You were so good at prayers, and I know you have continued to be.  Please pray for your siblings in a country and a world which has changed very quickly since your departure.  You and Dad are never far from my thoughts and my love for you both is a constant.  Love to you both !




Wednesday, March 12, 2014

Prayers to Malaysia

    
(Graphic:www.fox19.com  )



   A few days ago, a Malaysian Air flight bound from Kuala Lampur tp Beijing disappeared from radar.  More than two hundred people were aboard including two infants, and souls from all over the world.   The nations in that region of the world looked for the plane, but to no avail.   Possible oil on the ocean as seen from the air turned out not to be.  A possible door in the water turned out not to be. There has been great focus on two of the passengers of this flight who were in possession of stolen passports. One theory is that they intended to defect from their nation, Iran.

           The cellphones of some of the people on that flight were still sending signals as late as yesterday according to one news source. This would not be if the plane had crashed before its expected arrival in Beijing.

            For the moment, no one knows what happened.  The hope is that some type of a hijacking occurred and that the plane and its passengers have landed somewhere that is simply not yet known to the world.  And so, we know next to nothing about what has happened here.  Until we do, our prayers are for the people on the Malaysian Air flight that is missing, and certainly with their families who are certainly having a difficult time.  Prayers and best wishes to you all.




Update:    March 16, 2014

I would generally write an updated summary of all of the news from a variety of sources.  However, this time, the best analysis of the data we have can be found here:

 http://www.nytimes.com/2014/03/16/world/asia/malaysia-airlines-flight.html?_r=0


Interesting Theoretical but Educated Suppositions:

http://mh370shadow.com/post/79838944823/did-malaysian-airlines-370-disappear-using-sia68-sq68







          

Monday, March 3, 2014

The Severity of the Snowstorm

There is snow everywhere.



                   There have been years here in Virginia where I haven't worn an actual coat through the entire Winter. The Winter of 1989 was one of those years.  It was a bit like a perpetual Spring.   Given this year, however, it's hard to believe we are in about the same zone.

                     This year we have had multiple ice storms, power outages, and deep snow.  The drifted snow was so deep in one storm this season, that the horses couldn't leave the barn, and spent the day in stalls listening to the only station that would still come in, NPR.    Today, it's March and overnight we had freezing rain, and then we were expected to have a foot of snow.   My husband headed off to work and came back when the truck moved sideways on the mountain road rather than moving forward.  He will work from home today.   James had an appointment with his doctor this morning which had been rescheduled the result of an ice storm about two weeks ago.  We had still planned to go today thinking that the interstate would be clear by the time our appointment rolled around.  The doctors office initially had planned to open late, and then as our appointment neared, they placed a recording on their answering machine which said that they had closed today "due to the severity of the snowstorm".

                    This is a bit ironic when you consider that the Wal-Mart and many other stores had already discounted gloves, hats, shovels, pet safe salt crystals for walkways, and all manner of windshield scrapers and brushes.  It's a good thing I have lots of tea.

                As I think of the birds eating from the birdfeeder, I am a little sad.   Daniel loved the snow and playing in it. It seems to me that he didn't get nearly enough playtime in the snow in the short twelve and a half  years he was stationed here on Earth.    I love you, Daniel.   Please tell my Dad I love him too. I miss both of you, every day, and most especially during snowstorms !





Friday, February 28, 2014

Updates on Ukraine

            
Ukrainian police guarding the Crimean Parliament building.( Photograph: the guardian  )




         It's been one week since I last mentioned Ukraine in a post here, and frankly I am overwhelmed at the prospect of reducing all of the complex happenings there in the last week, and reporting to you as much as I know, without giving as much import to these happenings as they deserve.
              First of all, in most places in Ukraine, due to the civil and not so civil unrest, shops are closed. So, it could be exceedingly difficult right now to buy food, medicine, or something you find you need for a baby, child, or person who has become sick or injured in the past week.   Please know that all of you are in our prayers, and that people in the US are praying for your safety and your delivery from these complex challenges.

              The US does propagandize a percentage of the news which is shown here, particularly when it's international news.  Viktor Yanukovych, whom I mentioned in the last post, has fled Ukraine and gone to Russia with his family citing personal danger. He still claims to be rightful leader.  Ukraine's Parliament has issued warrants for his arrest for the murder of protesters.  Meanwhile, Ukraine's Parliament has gone about forming a new government.Ukraine has a new acting president Oleksandr Turchynov.   This looks good overall, but then there was additional news.

               Crimea, a section of Ukraine has a great many ethnic Russians.  In the tensions which have emerged this week, some of them have been shouting, "Crimea is Russia !"    In addition, Russia has mobilized armed fighters, helicopters, and ships and sent them to Ukraine.   Mr. Putin's official word is that "These are routine exercises" and he has also said that Russian troops are there in order to calm tensions in the region.  However, armed Russian soldiers have taken over two airports in Crimea.  Of course, all of this sounds reminiscent of Russia's occupation of Georgia some six years ago where they said they weren't there, and continued to take ground and destroy buildings.

               My interest is that families remain safe during whatever transitions occur there. May Ukrainians stay safe and retain their sovereign borders.    As I watch instability and civil unrest in Ukraine, I can't help but wonder how long it will be before civil unrest comes to the United States, the result of potentially economic collapse, or perhaps the continued loss of our freedoms by our present executive branch, without adequate pushback from our legislative or judicial branches.  I have friends that are both Ukrainian and Russian, and I wish all of you to be safe.    Best wishes, Ukrainian families who are in turmoil, please stay safe.



Friday, February 21, 2014

Prayers for Ukraine

              
(Independence Square Under Protest in Kiev      Picture:  EPA Igor Kovalenko  )

 
         Unlike most American boys of his age, Daniel knew a fair bit about Ukraine, and even knew that it is no longer "The Ukraine" but now, simply "Ukraine".    Homeschooling gave us the benefit of being able to study some history and geography depth that would not normally be included in the contemporary public school curriculum, and so, he knew a great deal more about the world, and about other nations than most Americans do.   He also knew something about Ukraine for another reason.  My husband's family were originally from Switzerland in the 1630s.  One of his ancestors was a mayor who got into trouble with the powerful Catholic church of the day, when he stated that he believed that a baptism should be done on someone who was aware of the choice they were making, rather than have a religious baptism performed upon them as an infant.  In that day, this was heresy, and as a result, he and his his large family had to flee for their lives, and  went to Germany.  Eventually, when Catherine the Great gave forty acres or more to families willing  to settle in what became the Ukraine, my husband's ancestors lived there.    (Those who are interested in reading more about this can look up the Molotschna Mennonite Settlement in Zaporizhia Oblast, Ukraine )  My husband's ancestors eventually came to the United States when it became clear to them that the Mennonites were to be controlled by the government there.  Daniel knew our family history on both sides, and I think that knowledge of family history made world history much more relatable and therefore more interesting to him.

                   It has been interesting to me that although I have never mentioned our family's history in Ukraine, however transitory, that Ukraine has been one of the nations that reads this blog and my others, in the highest numbers.  I really hope that some of the things we discuss here is somehow inspiring or encouraging, especially to those is Ukraine presently.

                   These are very difficult times in Ukraine.  Although American mainstream television is quite insular and only reports on things that appear to be at the pleasure of our own present regime, we have learned about the present challenges from foreign news networks, such as France 24, NHK from Japan, DW from Germany, RT from Russia and of course, BBC from the United Kingdom.   There has been turmoil in Ukraine in past years.  Economist and educator Yulia Tymoshenko had been Ukraine's first female prime minister.  Although she had  been a prominent politician there, and has been jailed on what appeared to most of the world to be trumped up charges. She was pro Ukrainian integration into the European Union whereas her opposition would prefer alliances only with the Russian Federation.  This has left a number of Ukrainians feeling underrepresented and concerned.  Many of them wish to join the European Union rather than preserving an alliance with Russia that they feel has historically been their oppressor.

                       The present prime minister is Viktor Yanukovych. Mr. Yanukovych had promised to reduce the powers held by the prime minister and to leave more to the Constitution, however these changes have not come as quickly as most Ukrainians have wished.  There is also the perception that he may be a Russian puppet. Many Ukrainians believe he is guilty of corruption and of cronyism. Many Ukrainians are demanding that he step down.    There have been numerous violent protests and Ukrainian police and military have killed protestors and sometimes simply students who were in the wrong place at the wrong time.  As I write this post, many Ukrainians believe that Ukraine sits on the verge of civil war.  Just a few hours ago, Mr. Yanukovych agreed to an early election.



                 For more than a year Ukraine has been on the verge of civil war.   Uncertainty and fear rule the day, and trust in the authorities is very weak.  I am reminded of trends which seem to be occurring here albeit a little more slowly, as well.  Please pray for the people of Ukraine who simply wish to live peacefully with equitable management. Please pray for the safety of the people of Ukraine.  We are thinking of you and your families.



This link explains some of the recent turmoil in Ukraine and their current regime's role in this:

 http://www.salon.com/2014/02/21/how_to_make_sense_of_the_violence_in_ukraine_partner/


Update:   February 22, 2014         It hasn't happened just yet but Parliament in Ukraine has voted to release Yulia Tymoshenko, who is currently in the hospital for a back ailment.    Parliament has promised to return to the Constitution as written in 2004.   However, the bulk of the people in Ukraine still wish to see Viktor Yanukovych removed.   These remain difficult times there.  Many people are concerned that such concessions may not be permanent ones.  They do not trust their present government.




Saturday, February 15, 2014

Happy Valentine's Day 2014

         
We have horses in chocolate colors and here we have horses made of chocolate.





           After the passing of a child, even five years down the road, holidays can be difficult and they can be added to a stack of holidays that just simply didn't live up to the ones you thought you could anticipate, had that child been alive.  The day is not only not what you had intended for yourself, but not what you had anticipated for your child.  This would be a Valentine's Day in which Daniel would have been 17 and only three months from his eighteenth birthday.  This might have been a special date night for him.
          
 Unfortunately, this is not the timeline we have on our own trip to Earth.  In this timeline we have time remaining for the rest of us here on Earth without him, and so we are faced with the challenge of making this time count and be meaningful, not only to those of us in the family who remain, but to Daniel also.
        
   This years Valentine's Day post will appear on another one of my blogs located at the link below.

 I hope that you too with find some joy and some meaning from it. I think Daniel would approve of the manner in which we spent our time today.


               Chocolate Horses




Happy Valentine's Day


"The Only Name (Yours Will Be)"          by Big Daddy Weave



Thursday, January 23, 2014

Messages from Daniel

                



  I can go quite a time now without seeing Daniel or hearing about him in a dream.    Last night however, I heard from him twice.    In the first dream, some time before three am, I dreamt that my husband and I were busily running an errand.    My husband told me in the dream, that Daniel would be out the rest of the afternoon.  He was out with his new friend and they were practicing target shooting with their new rifles.  In the dream I was disappointed, because I had hoped to see him and spend time with him when we got home that day.

                      Of course, I woke up and I don't have the option of completing an important errand and seeing Daniel here at the house afterward.

                       Later, I fell back to sleep and this time I saw Daniel.   He was as happy and as animated as I remember.   "Grandma (my husband's mother) said that I should stop by and see you." he said.     "Thank you, sweetheart.  You know how much I love you", I said.    "How are you ?"    I asked.    Then, he began to tell me of all the magical things he was learning and of all the people he was meeting.   He spoke faster than my brain could process, and I am afraid I didn't retain much.  I did get the idea that he is safe and well.

                    I have come to believe that although some of these types of dreams come from my own brain, creating a safe place where I can remember our beloved Daniel, but that these " sightings in dreams" don't all originate this way.   I have had dreams in which I have received information from Daniel and from my Dad, which turned out to be factually accurate later.

                  So, I believe that Daniel visited last night, just to let me know that he is fine, and is thriving.  He knows we love to hear from him.  Perhaps this is God's way of making our remaining time on Earth tolerable without Daniel, especially when life in the US right now, is so uncertain and scary.

                  If you have a loved one who has gone on ahead of you, perhaps you can hear from them also by being open to hearing from them in dreams.   I hear from Daniel and my Dad and others usually between 3 and 4 am, but sometimes as late as 5 am.   I certainly appreciate the encouragement !




Music                  Sarah Slean                      "Notes from the Underground"

Saturday, January 18, 2014

Is This What Happened to Daniel ?




These are pictures of Daniel at seven and eight.

 
                Because Daniel was well and had no known cardiac issues, conduction or otherwise, no baseline EKG was ever obtained in his twelve and a half years on Earth.   And so, when he experienced a sudden death with no reasons found on multiple autopsies afterward, the medical examiners assigned a presumptive cause of death. A baseline EKG could not be used to determine whether there were signs of bundle branch block, atrial fibrillation, or a "J-wave".    Based on our family history of elderly members having conduction disorders, and the character of Daniel's sudden death, and inability to respond to immediate CPR, the cause of death is surmised to be a cardiac conduction disorder which evolved into a ventricular arrhythmia which was incompatible with life.  There are a number of types of conduction disorders which can impact babies, children, teens and young adults.   Today, Medscape sent me additional medical continuing education for my RN license.   Although Brugada Syndrome does have some commonalities with Daniel's case, there are also great differences.
     Normally, when I write an informational or educational post on this blog, I paraphrase the information on the most recent studies in order to be more readily understood by the general public.  In this case however, I thought this latest article written by cardiologists was so important, that I should include it verbatim, crediting both Medscape and the Authors, Jose M. Dizon, MD, and Jeffrey N. Rottman, MD.    If you or your family have anyone who experienced a sudden cardiac death, then the article which follows should probably be printed out and taken to your physician, so that other family members can be screened and potentially treated to avoid the potential for sudden arrhythmiccardiac death.
     If this post saves even one life, then the article, and this post will have done its job.
                                                           _________________________

Brugada Syndrome 

Author: Jose M Dizon, MD; Chief Editor: Jeffrey N Rottman, MD 

Practice Essentials

Brugada syndrome is a disorder characterized by sudden death associated with one of several ECG patterns characterized by incomplete right bundle-branch block and ST-segment elevations in the anterior precordial leads.

Essential update: Predicting prognosis in Brugada syndrome with J-wave characteristics

In patients with Brugada syndrome, the presence of a J wave in multiple leads and horizontal ST-segment morphology after J wave are associated with a higher incidence of cardiac events, according to a recent study of 460 patients with Brugada syndrome.[1] Important predictors of cardiac events included symptoms, QRS duration in lead V2 longer than 90 ms, and inferolateral J wave and/or horizontal ST-segment morphology after J wave.[1] 

Signs and symptoms

Signs and symptoms in patients with Brugada syndrome may include the following:
  • Syncope and cardiac arrest: Most common clinical manifestations; in many cases, cardiac arrest occurs during sleep or rest
  • Nightmares or thrashing at night
  • Asymptomatic, but routine ECG shows ST-segment elevation in leads V1-V3
  • Associated atrial fibrillation (20%)[2]
  • Fever: Often reported to trigger or exacerbate clinical manifestations
The lack of a prodrome has been reported to be more common in patients with ventricular fibrillation documented as the cause of syncope in patients with Brugada syndrome.[3]
See Clinical Presentation for more detail.

 

Diagnosis

Most patients with Brugada syndrome have a normal physical examination. However, such an examination is necessary to exclude other potential cardiac causes of syncope or cardiac arrest in an otherwise healthy patient (eg, heart murmurs from hypertrophic cardiomyopathy or from a valvular or septal defect).
Testing
In patients with suspected Brugada syndrome, consider the following studies:
  • 12-lead ECG in all patients with syncope
  • Drug challenge with a sodium channel blocker in patients with syncope without an obvious cause
  • Electrophysiologic study to determine the inducibility of arrhythmias for risk stratification
Laboratory tests that may aid in the diagnosis of Brugada syndrome include the following:
  • Serum potassium and calcium levels: In patients presenting with ST-segment elevation in the right precordial leads
  • Potassium and calcium levels: ECG patterns in patients with hypercalcemia and hyperkalemia similar to that of Brugada syndrome
  • CK-MB and troponin levels: In patients with symptoms compatible with an acute coronary syndrome
  • Genetic testing for a mutation in SCN5A
Further testing may be indicated to exclude other diagnostic possibilities.
Imaging studies
Perform echocardiography and/or MRI, primarily to exclude arrhythmogenic right ventricular cardiomyopathy, as well as to assess for other potential causes of arrhythmias.
See Workup for more detail.

Management

To date, the only treatment that has proven effective in treating ventricular tachycardia and fibrillation and preventing sudden death in patients with Brugada syndrome is implantation of an automatic implantable cardiac defibrillator (ICD).
No pharmacologic therapy has been proven to reduce the occurrence of ventricular arrhythmias or sudden death; however, theoretically, drugs that counteract the ionic current imbalance in Brugada syndrome could be used to treat it. For example, quinidine, which blocks the calcium-independent transient outward potassium current (Ito), has been shown to normalize the ECG pattern in patients with Brugada syndrome.[4] However, quinidine also blocks sodium (Na) currents, which could have contrary effects.
See Treatment and Medication for more detail.

Image library

Schematics show the 3 types of action potentials iSchematics show the 3 types of action potentials in the right ventricle: endocardial (End), mid myocardial (M), and epicardial (Epi). A, Normal situation on V2 ECG generated by transmural voltage gradients during the depolarization and repolarization phases of the action potential. B-E, Different alterations of the epicardial action potential that produce the ECG changes observed in patients with Brugada syndrome. Adapted from Antzelevitch, 2005. 
                          

Background

Brugada syndrome is a disorder characterized by sudden death associated with one of several electrocardiographic (ECG) patterns characterized by incomplete right bundle-branch block and ST elevations in the anterior precordial leads. See the image below.
Three types of ST-segment elevation in Brugada synThree types of ST-segment elevation in Brugada syndrome, as shown in the precordial leads on ECG in the same patient at different times. Left panel shows a type 1 ECG pattern with pronounced elevation of the J point (arrow), a coved-type ST segment, and an inverted T wave in V1 and V2. The middle panel illustrates a type 2 pattern with a saddleback ST-segment elevated by >1 mm. The right panel shows a type 3 pattern in which the ST segment is elevated < 1 mm. According to a consensus report (Antzelevitch, 2005), the type 1 ECG pattern is diagnostic of Brugada syndrome. Modified from Wilde, 2002. In the initial description of Brugada syndrome, the heart was reported to be structurally normal, but this concept has been challenged.[5] Subtle structural abnormalities in the right ventricular outflow tract have been reported.
Brugada syndrome is genetically determined and has an autosomal dominant pattern of transmission in about 50% of familial cases (see Etiology). The typical patient with Brugada syndrome is young, male, and otherwise healthy, with normal general medical and cardiovascular physical examinations.
Patients with Brugada syndrome are prone to develop ventricular tachyarrhythmias that may lead to syncope, cardiac arrest, or sudden cardiac death.[6, 7, 8] Infrahisian conduction delay and atrial fibrillation may also be manifestations of the syndrome.[9, 10]
About 5% of survivors of cardiac arrest have no clinically identified cardiac abnormality. About half of these cases are thought to be due to Brugada syndrome.[11]
At present, implantation of an automatic implantable cardiac defibrillator (ICD) is the only treatment proven effective in treating ventricular tachycardia and fibrillation and preventing sudden death in patients with Brugada syndrome (see Treatment).


Pathophysiology

Brugada syndrome is an example of a channelopathy, a disease caused by an alteration in the transmembrane ion currents that together constitute the cardiac action potential. Specifically, in 10-30% of cases, mutations in the SCN5A gene, which encodes the cardiac voltage-gated sodium channel Nav 1.5, have been found. These loss-of-function mutations reduce the sodium current (INa) available during the phases 0 (upstroke) and 1 (early repolarization) of the cardiac action potential.
This decrease in INa is thought to affect the right ventricular endocardium differently from the epicardium. Thus, it underlies both the Brugada ECG pattern and the clinical manifestations of the Brugada syndrome.
The exact mechanisms underlying the ECG alterations and arrhythmogenesis in Brugada syndrome are disputed.[12] The repolarization-defect theory is based on the fact that right ventricular epicardial cells display a more prominent notch in the action potential than endocardial cells. This is thought to be due to an increased contribution of the transient outward current (Ito) to the action potential waveform in that tissue.
A decrease in INa accentuates this difference, causing a voltage gradient during repolarization and the characteristic ST elevations on ECG. Research has provided human evidence for a repolarization gradient in patients with Brugada syndrome using simultaneous endocardial and epicardial unipolar recordings.[13] See the image below.
Schematics show the 3 types of action potentials iSchematics show the 3 types of action potentials in the right ventricle: endocardial (End), mid myocardial (M), and epicardial (Epi). A, Normal situation on V2 ECG generated by transmural voltage gradients during the depolarization and repolarization phases of the action potential. B-E, Different alterations of the epicardial action potential that produce the ECG changes observed in patients with Brugada syndrome. Adapted from Antzelevitch, 2005. When the usual relative durations of repolarization are not altered, the T wave remains upright, causing a saddleback ECG pattern (type 2 or 3). When the alteration in repolarization is sufficient to cause a reversal of the normal gradient of repolarization, the T wave inverts, and the coved (type 1) ECG pattern is seen. In a similar way, a heterogeneous alteration in cardiac repolarization may predispose to the development of reentrant arrhythmias, termed phase 2 reentry, that can clinically cause ventricular tachycardia and ventricular fibrillation.[14]
An alternative hypothesis, the depolarization/conduction disorder model, proposes that the typical Brugada ECG findings can be explained by slow conduction and activation delays in the right ventricle (in particular in the right ventricular outflow tract).[12]
One study used ajmaline provocation to elicit a type 1 Brugada ECG pattern in 91 patients, and found that the repolarization abnormalities were concordant with the depolarization abnormalities and appeared to be secondary to the depolarization changes.[15] Using vectorcardiograms and body surface potential maps, investigators were able to show that depolarization abnormalities and conduction delay mapped to the right ventricle.


Etiology

The prototypical case of Brugada syndrome has been associated with alterations in the SCN5A gene, of which nearly 300 mutations have been described.[16] Mutations in other genes have been proposed to cause a variant of Brugada syndrome, including the genes coding for alpha1- and beta2b-subunits of the L-type calcium channel (CACNA1C and CACNB2), which are thought to cause a syndrome of precordial ST elevation, sudden death, and short QT interval.[17]
Mutations in the genes GPD1-L[18] and SCN1B[19] have been identified in a few familial cases. Cases in which a mutation in the SCN5A gene cannot be demonstrated may be due to mutations of these genes, due to other unidentified genes, or located in regions of the coding sequence or promoter region of SCN5A that are not routinely sequenced in lab tests.
Many clinical situations have been reported to unmask or exacerbate the ECG pattern of Brugada syndrome. Examples are a febrile state, hyperkalemia, hypokalemia, hypercalcemia, alcohol or cocaine intoxication, and the use of certain medications, including sodium channel blockers, vagotonic agents, alpha-adrenergic agonists, beta-adrenergic blockers, heterocyclic antidepressants, and a combination of glucose and insulin.[14] 


Epidemiology

United States statistics

Because of its recent identification, the prevalence of Brugada syndrome is not well established. In a large university hospital on the West Coast of the United States, the prevalence of a Brugada ECG pattern among unselected, mainly white and Hispanic adults was 2 of 1348 patients (0.14%); in both cases, the ECG patterns were type 2.[20] The prevalence in Asian and other ethnic populations may be higher.

International statistics

In parts of Asia (eg, the Philippines, Thailand, Japan), Brugada syndrome seems to be the most common cause of natural death in men younger than 50 years. It is known as Lai Tai (Thailand), Bangungot (Philippines), and Pokkuri (Japan). In Northeast Thailand, the mortality rate from Lai Tai is approximately 30 cases per 100,000 population per year.[21]

Race-, sex-, and age-related demographics

Brugada syndrome is most common in people from Asia. The reason for this observation is not yet fully understood but may be due to an Asian-specific sequence in the promoter region of SCN5A.[22]
Brugada syndrome is 8-10 times more prevalent in men than in women, although the probability of having a mutated gene does not differ by sex. The penetrance of the mutation therefore appears to be much higher in men than in women.
Brugada syndrome most commonly affects otherwise healthy men aged 30-50 years, but affected patients aged 0-84 years have been reported. The mean age of patients who die suddenly is 41 years.[14]


Prognosis

Brugada syndrome is a cause of polymorphic ventricular tachycardia, which may degenerate into ventricular fibrillation and cause cardiac arrest. Prolonged hypoxia during cardiac arrest may leave patients with neurologic sequelae. Implantable cardioverters-defibrillators (ICDs) are often used to treat patients with Brugada syndrome, exposing them to complications related to device implantation and the potential for inappropriate shocks.
During a mean follow-up of 24 months, sudden cardiac death or ventricular fibrillation occurred in 8.2% of patients with Brugada syndrome. A history of syncope, a spontaneously abnormal ECG, and inducibility during programmed electrical stimulation (by one study) significantly increased this risk.[7]
Brugada syndrome may be a significant cause of death, aside from accidents, in men under 40. The true incidence is not known due to reporting biases. Although there is a strong population dependence, an estimated 4% of all sudden deaths and at least 20% of sudden deaths in patients with structurally normal hearts are due to the syndrome. Those with the syndrome have a mean age of sudden death of 41 ±15 years.[23] 


Patient Education

Educating the patient and his or her family members and coworkers about basic cardiopulmonary resuscitation (CPR) is important. Genetic counseling is reasonable if desired by the patient and family

History

Syncope and cardiac arrest are the most common clinical manifestations leading to the diagnosis of Brugada syndrome. Nightmares or thrashing at night may occur. However, some patients remain asymptomatic, and the diagnosis of Brugada syndrome is suggested by a routine ECG showing ST-segment elevation in leads V1 through V3.
A family history of sudden cardiac death is common, though not universal, as the syndrome can occur sporadically. In about 20% of patients, atrial fibrillation is an associated arrhythmia.[2]
The context of the cardiac event is important. In many cases, cardiac arrest occurs during sleep or rest. Cases occurring during physical activity are rare. Fever is often reported to trigger or exacerbate the clinical manifestations of Brugada syndrome.
A 2012 study suggests that the quality of symptoms prior to syncope can predict a benign or malignant cause in patients with Brugada syndrome. Specifically, the lack of a prodrome was more common in patients with ventricular fibrillation documented as the cause of syncope.[3]

Physical Examination

The physical examination is usually normal in patients with Brugada syndrome. Nevertheless, physical examination is required to rule out other possible cardiac causes of syncope or cardiac arrest in an otherwise healthy patient (eg, heart murmurs from hypertrophic cardiomyopathy or from a valvular or septal defect

Diagnostic Considerations

The differential diagnosis of cardiac arrest in an otherwise presumably healthy subject is varied, but it includes such entities as acute cardiac ischemia due to atherosclerosis or coronary anomaly, hypertrophic cardiomyopathy, catecholaminergic polymorphic ventricular tachycardia, long QT syndrome, and arrhythmogenic right ventricular cardiomyopathy (ARVC). Many of these entities can be differentiated on the basis of history and physical examination. Occasionally, however, there is overlap that requires special consideration.
The differential diagnosis of right precordial ST-segment elevation is as follows[14, 24] :
  • Atypical right bundle-branch block
  • Left ventricular hypertrophy
  • Early repolarization
  • Acute pericarditis
  • Acute myocardial ischemia or infarction
  • Prinzmetal angina
  • Pulmonary embolism
  • Dissecting aortic aneurysm
  • Mediastinal tumor or hemopericardium compressing the right ventricular outflow tract
  • Arrhythmogenic right ventricular dysplasia and/or cardiomyopathy
  • Various abnormalities of the central and autonomic nervous systems
  • Overdose of a heterocyclic antidepressant
  • Cocaine intoxication
  • Duchenne muscular dystrophy
  • Friedreich ataxia
  • Thiamine deficiency Hypercalcemia
  • Hyperkalemia
  • Hypothermia
  • Pectus excavatum
  • Effects of athletic training

Differential Diagnoses



Approach Considerations

Many patients with Brugada syndrome are young and otherwise healthy and may present with syncope. Patients with syncope should not be assumed to have a benign condition, and a 12-lead ECG should be performed.
A drug challenge with a sodium channel blocker should be considered in patients with syncope in whom no obvious cause is found. An experienced physician should interpret the ECGs, and an electrophysiologist should review them if possible.
Further testing may be indicated to exclude other diagnostic possibilities.

Electrocardiography

Three ECG patterns have been described in Brugada syndrome[24] (see the image and table below). Placing the right precordial leads in the second intercostal space has been proposed to add sensitivity to the ECG diagnosis of Brugada syndrome.[25] Exercise stress testing may suppress ECG changes and arrhythmias.
Three types of ST-segment elevation in Brugada synThree types of ST-segment elevation in Brugada syndrome, as shown in the precordial leads on ECG in the same patient at different times. Left panel shows a type 1 ECG pattern with pronounced elevation of the J point (arrow), a coved-type ST segment, and an inverted T wave in V1 and V2. The middle panel illustrates a type 2 pattern with a saddleback ST-segment elevated by >1 mm. The right panel shows a type 3 pattern in which the ST segment is elevated < 1 mm. According to a consensus report (Antzelevitch, 2005), the type 1 ECG pattern is diagnostic of Brugada syndrome. Modified from Wilde, 2002. Table. ECG Patterns in Brugada Syndrome (Open Table in a new window)
Characteristic Type 1 Type 2 Type 3
J wave amplitude≥2 mm≥2 mm≥2 mm
T waveNegativePositive or biphasicPositive
ST-T configurationCover-typeSaddlebackSaddleback
ST segment, terminal portionGradually descendingElevated by ≥1 mmElevated by < 1 mm
Recently, the QRS duration on 12-lead ECG has been suggested as a risk marker for vulnerability to dangerous arrhythmias.[26, 27] Inferolateral repolarization abnormalities have also been proposed to be a marker of risk.[28, 29]
Asymptomatic patients with a type 1 ECG pattern on routine ECG represent a difficult case. According to the latest consensus guidelines, a clinical electrophysiologist should evaluate patients in this situation.[14] Patients should be risk-stratified using the techniques described below, and a decision on implantable cardioverter-defibrillator (ICD) implantation should be made accordingly.

Signal-averaged ECG

Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Brugada syndrome may be difficult to differentiate in some cases. Late potentials on signal-averaged ECG may reveal the fibrofatty degeneration of the right ventricle seen in ARVC.

Challenge with sodium channel blockers

In some patients, the intravenous administration of drugs that block sodium channels may unmask or modify the ECG pattern, aiding in diagnosis and/or risk stratification in some individuals. Infuse flecainide 2 mg/kg (maximum 150 mg) over 10 minutes, procainamide 10 mg/kg over 10 minutes, ajmaline 1 mg/kg over 5 minutes, or pilsicainide 1 mg/kg over 10 minutes. This challenge should be performed with continuous cardiac monitoring and in a setting equipped for resuscitation.
In patients with a normal baseline ECG, the results are positive when the drug generates a J wave with an absolute amplitude of 2 mm or more in leads V1, V2, and/or V3 with or without an RBBB. Administration of the drug should be stopped when the result is positive, when ventricular arrhythmia occurs, or when QRS widening of greater than 30% is observed.
Isoproterenol and sodium lactate may be effective as antidotes if the sodium channel blocker induces an arrhythmia, and the isoproterenol response may also have diagnostic use.
This drug test should not be performed in patients with a type 1 ECG pattern (see Table above) because it adds no new information.
In patients with the type 2 or 3 patterns, the drug challenge is recommended to clarify the diagnosis.[14] The sensitivity and specificity of drug challenge testing is not yet confirmed. A 2012 study examining patients with type 2 or 3 patterns showed that a positive drug challenge in symptomatic patients was associated with adverse events. However, asymptomatic patients with a similar result had a low event rate. This study suggests that a drug challenge may aid in risk stratification for symptomatic patients with a nondiagnostic ECG, but may not be justified in asymptomatic patients.[30] 


Electrophysiologic Study

Some investigators use an electrophysiologic study (EPS) to determine the inducibility of arrhythmias, in an effort to risk-stratify patients with Brugada syndrome. However, the predictive value of this approach is debated. In 2001, Brugada showed that inducibility may be a good predictor of outcome.[31] However, in 2002, Priori reported a poor predictive value of invasive testing.[32] A subsequent study by Gehi concluded that EPS was not of use in guiding the management of patients with Brugada syndrome.[33]
More recently, investigators independently examining a large series of patients from Europe and Japan have failed to find any predictive value for EPS. In the large registry of Brugada syndrome patients from Europe, only symptoms and a spontaneous type 1 Brugada ECG pattern, but not EPS, were predictive of arrhythmic events.[34] . In the smaller Japanese registry, only family history of sudden cardiac death at younger than 45 years and inferolateral early repolarization pattern on ECG predicted cardiac events.[29]
A study by Priori et al enrolled 308 patients with no history of cardiac arrest and a spontaneous or drug-induced type I ECG pattern.[35] Seventy eight of the patients had an ICD implanted prophylactically. EPS with a consistent stimulation protocol was performed on all patients; at a mean follow-up of 34 months, no differences were found in the incidence of appropriate ICD shocks or cardiac arrest between patients who were inducible and patients who were noninducible. Significant predictors of arrhythmia in this study included syncope and a spontaneous type I ECG pattern, a ventricular effective refractory period of less than 200 ms on EPS, and a fragmented QRS in the anterior precordial ECG leads.
Investigators from the United Kingdom examined a group of probands who suffered sudden arrhythmic death believed to be due to Brugada syndrome.[36] A retrospective review of risk factors determined that these patients would not have been considered high risk, calling into question the sensitivity of current risk factors (eg, symptoms, type I ECG pattern). However, few ECGs were available for examination in the probands with sudden death .


Potassium and Calcium Levels

Check serum potassium and calcium levels in patients presenting with ST-segment elevation in the right precordial leads.
Both hypercalcemia and hyperkalemia may generate an ECG pattern similar to that of Brugada syndrome.


Creatine Kinase-MB and Troponin

Laboratory markers, such as creatine kinase-MB (CK-MB) and troponin, should be checked in patients who have symptoms compatible with an acute coronary syndrome. Elevations indicate cardiac injury.


Genetic Testing

Patients with high likelihood of Brugada syndrome may be genetically tested for a mutation in SCN5A, which codes for the alpha subunit Nav 1.5 of the cardiac sodium channel. The results of this test support the clinical diagnosis and are important for the early identification of family members at potential risk. However, the yield of genetic testing remains relatively low at this time, with mutations in SCN5A found in only 11-28% of index cases.[16] 


Echocardiography and/or MRI

Echocardiography and/or MRI should be performed, mainly to exclude arrhythmogenic right ventricular cardiomyopathy. However, these studies are also used to assess for other potential causes of arrhythmias, such as hypertrophic cardiomyopathy, unsuspected myocardial injury, myocarditis, or aberrant coronary origins.

Approach Considerations

At present, implantation of an automatic implantable cardiac defibrillator (ICD) is the only treatment proven effective in treating ventricular tachycardia and fibrillation and preventing sudden death in patients with Brugada syndrome. No pharmacologic therapy has been proven to reduce the occurrence of ventricular arrhythmias or sudden death.
Indications for ICD implantation were published in the report of the Second Consensus Conference on Brugada syndrome.[23] For patients at the 2 extremes of risk stratification, the decision to implant or not to implant an ICD is relatively straightforward.
Patients with Brugada syndrome and a history of cardiac arrest must be treated with an ICD. In contrast, asymptomatic patients with no family history of sudden cardiac death can be managed conservatively with close follow-up, and ICD implantation is not recommended. Patients with intermediate clinical characteristics present the greatest challenge. For details about risk stratification and indications for ICD implantation, readers are referred to the Second Consensus Conference report.[23] 


Activity Restriction

Because regular physical activity may increase vagal tone, sport may eventually enhance the propensity of athletes with Brugada syndrome to have ventricular fibrillation and sudden cardiac death at rest or during recovery after exercise. Therefore, Pelliccia et al recommend that patients with a definite diagnosis of Brugada syndrome should be restricted from competitive sports.[37]
However, no direct evidence supports this recommendation. It remains unclear whether asymptomatic carriers of SCN5A mutations should also be restricted from participation in sports.

Management of Concomitant Syncope or Cardiac Arrest

Patients with syncope or cardiac arrest and suspected or diagnosed Brugada syndrome must be hospitalized. Continuous cardiac monitoring is necessary until definitive treatment (ie, ICD placement) can be provided.


Deterrence/Prevention of Complications

When indicated, use of an ICD may prevent sudden cardiac death.[14] The patient's relatives and coworkers should be educated about Brugada syndrome and the basics of cardiopulmonary resuscitation (CPR). Genetic counseling is indicated if desired by the patient and his or her family.


Consultations

A board-certified cardiologist who specializes in cardiac arrhythmic disorders (ie, a clinical electrophysiologist) should evaluate patients with suspected Brugada syndrome. Consultation with a genetic counselor is indicated for genetic screening and counseling of patients and their relatives.


Long-Term Monitoring

A board-certified electrophysiologist should closely follow patients with Brugada syndrome. Taking a careful history is important, as not all syncope is necessarily arrhythmic in Brugada syndrome. For example, a clear prodrome suggesting vasovagal syncope does not suggest an adverse prognosis in an otherwise asymptomatic patient with a Brugada ECG pattern.


Medication Summary

Theoretically, drugs that counteract the ionic current imbalance in Brugada syndrome could be used to treat it. For example, quinidine, which blocks the calcium-independent transient outward potassium current (Ito), has been shown to normalize the ECG pattern in patients with Brugada syndrome.[4] However, quinidine also blocks sodium (Na) currents, which could have contrary effects.
Tedisamil, a potent Ito blocker without strong Na channel effects, may be more effective than quinidine.[38] Isoproterenol, which boosts the L-type calcium current, can also counteract the ionic current imbalance.[38]
Thus far, no drug therapy for Brugada syndrome is recommended because clinical trials have failed to convincingly prove effectiveness.[23, 39, 40, 41] A number of medications can unmask the Brugada pattern on ECG and potentially exacerbate the clinical manifestations of Brugada syndrome. The Web site BrugadaDrugs.org has been established to educate patients and professionals about these potentially dangerous medications.[42] 

Antiarrhythmic Drugs

Class Summary

There is general consensus that certain drugs can be potentially antiarrhythmic in Brugada syndrome patients. However, there are no randomized clinical studies in Brugada syndrome patients. As such, only in the setting of long-term therapeutic treatment in an experienced medical center can practitioners consider the use of antiarrhythmics for high-risk patients. Currently, quinidine seems to be the treatment of choice for long-term therapy.

Quinidine

Quinidine maintains a normal heart rhythm following cardioversion of atrial fibrillation or flutter. It depresses myocardial excitability and conduction velocity. Prior to administration, control the ventricular rate and CHF (if present) with digoxin or calcium channel blockers.
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End of Medscape article.



This song probably says what most of the parents who have lost a child to arrhythmic death syndrome really feel.
 Plumb                                                                          "I Want You Here"