Hi, my name is Mary and this is my, and my family's, heart story. For me, it started in my early 20's with annoying palpitations and a racing heart. I had low exercise tolerance, in general, and sometimes exercise was the trigger for the episodes, but not always. The episodes were constant and they would last for days. I was always going to different doctors and they would all tell me, it is nothing harmful and "don't drink coffee and don't drink tea." This was in the mid-1980's -- a long time ago. I finally gave up going to doctors and I just learned to live with it. In 1989, my Dad had a stroke at the age of 50. He was found to be in atrial fibrillation and 3rd degree AV block, for which he received a pacemaker. He recovered from the stroke but was never fully the same again--he had some mental deficits and weakness on one side. He was put on blood thinners for atrial fibrillation. He died very suddenly 2 years later at a flea market and we were devastated. The exact cause of his death was never determined, but it was probably SCA (sudden cardiac arrest). At the time we all thought he had had a massive stroke. His echocardiograms from the very beginning had always showed a normal sized heart with a normal EF.
My father's father died very suddenly at the age of 28-- the cause of his death was always attributed to a rheumatic fever he had had in childhood. Also, my Dad had hip problems and my living brother currently has hip problems--he needs a hip replacement.
In 2001, I had a few episodes of extreme weakness and near passing out and was found to be in 2nd and 3rd degree AV block in the ER of the local university hospital. Soon after that, I received a pacemaker. In 2002 my brother, John, died very suddenly at work at the age of 40-- he had celebrated his birthday only two months prior to his death. We were all devastated and to this day I have never gotten over it. My brother's autopsy showed that he was in congestive heart failure. Meanwhile, although I felt initially much better with the pacemaker, I had periods of extreme weakness and had constant and annoying palpitations and a pounding heart. I was in the ER a lot and I was always told that the pacemaker was functioning normally. I talked about my family history and the sudden death of my Dad and my brother and that I thought that I may too, also die suddenly. I was always scared. I was told that, "no, your problem is an isolated conduction block-- your heart's ejection fraction is normal, you have no structural heart disease and your brother's problem was different" i.e., congestive heart failure, etc., etc. Still, I did not believe that my problem was unrelated to the sudden death in my family. I was vocal about it and I told them that my Dad's heart appeared structurally normal too and that he had a normal EF and died suddenly, too. Still they didn't listen. I saw different doctors at different institutions for 2nd opinions and they all said the same thing. "Your heart is structurally normal, normal EF, etc. You have an isolated AV conduction block, for which the pacemaker continues to function normally." Yes, but I feel weak and I have constant palpitations all day every day... again, the pacemaker continues to function normally. I never doubted that the pacemaker functioned normally, I just thought my symptoms were related to issues which lay outside the limits of the pacemaker's normal therapeutic functioning. "Mary has anxiety/depression and she is angry at the pacemaker". This was said to my husband as the reason for my troubles. I gave up and just pretended to believe them and lived with it for a little while-- I also did quite a lot of reading. I found an article from 1999, Fatkin et. al. that described a genetic problem that seemed to parallel exactly the sudden death and AV conduction block in my family, including age of onset and disease progression. The article described a mutation in the lamin A/C (LMNA) gene, which caused DCM and conduction system disease in a population of families. Mutations in this gene also, I learned, can cause different forms of muscular dystrophy. I sat on this information for a little while and emailed a Research Institute and the response was "yes, it sounds like that is it, and why don't you come to us to be evaluated." I continued to sit on it.
Literally--a few months later--- we were driving to a mall and I suddenly lost consciousness. My husband was driving and he thought I just suddenly fell asleep. I was out for about 3 minutes. We turned around and went to the ER. The pacemaker showed V. Tach and V. Fib. on interrogation and I was just very lucky to come out of it-they all said--and that I was very close to death. My echo showed global left ventricular dysfunction and they placed a new ICD-- pacer/defibrillator. Everyone started talking about LMNA to me. I never said I know, or I told you so, but I wanted to, because I was mad. The doctor said that if they had known it could be LMNA related DCM they would have put in a defibrillator already. I wanted to say, you should have known, because the article came out in 1999, but I did not say that. I could also tell the doctor felt bad and was worried and so I felt bad for the doctor and was just grateful that it was over and grateful to the doctor for putting in the new ICD. Listening and considering other reasons for symptoms- even if it is outside of the scope of what someone has ever seen before or contrary to what he or she truly believes it to be-- is so important and can't be overstated. My sister who is now 40 received an ICD at aged 36. The course of her disease has paralleled mine, but so far she has not had the heart failure part and I hope she never does. My defibrillator has gone off quite a lot over the years and my EF goes up and down. I have problems with atrial flutter and atrial fibrillation, which have been resistant to treatment and cause a lot of symptoms. I had the LMNA genetic test done in 2006 and it was positive for a disease causing mutation in Lamin AC: C673T, r225x -- the mutation reads as a stop codon, so instead of reading and making the full normal lamin protein, it makes a truncated version of the protein. The profound weakness that I randomly feel is also related to a mild form of a particular muscular dystrophy, LGMD type 1B, which I had also read about and found out several years ago that I do indeed have. I am worried for my kids and have them closely followed and so far they are absolutely fine. I sincerely hope that new effective drugs will come out soon to treat LMNA related DCM, as well as other genetic forms of cardiomyopathy. Thank you for reading my story, Mary