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Hi everyone, I’m new here tonight. I’m 41, mum of 4.
Ive had a rough 3 years. It all started with chest pain and a thumping heartbeat when walking in 2015. It had a rapid onset and rapid deceleration. Stress test on treadmill triggered it so they had it all recorded. This was a relief because my doctor told me it was anxiety, acid reflux then depression.
i had and an EP study which didn’t trigger the ‘arrythmia’. I was put on bisoprolol. It helped, no more chest pain, had echo which showed intermittent left bundle branch block with paroxysmal atrial tachycardia. Fast forward to 2018. Repeat echo showed global hypokinesia. I was absolutely terrified, I was worrying myself sick. Cardiac MRI scheduled, results are mild dilated cardiomyopathy with left bundle branch block with normal PR intervals and paroxysmal atrial tachycardia. EF is 49%, mild dilation of left ventricle but no sign of hypertrophy, indexed end-diastolic volume 100ml/m2, right ventricular function is normal. No sign of inducible ischaemia with adenosine stress perfusion and no sign of local fibrosis infiltration or inflammation.
I now take an ACE inhibitor and bisoprolol.
I am being referred to genetic screening for the Lamin a/c Gene. If I test positive for that my 4 children have 50% chance of inheriting the same condition. The prognosis is worse than cardiomyopathy alone, it has an extremely poor prognosis with very early death that is usually caused by sudden cardiac death or a fatal arrhythmia, often in the 40th decade of life.
Does anyone here have this Lamin a/c condition? If so, I’d love to chat and gather information from real people rather than reading about it. I have been reading from studies, scholars and articles that are as up to date from June 2018 so they’re quite current in their findings and management.
Sorry for the long post. I hope this forum is active and someone takes the time to read. I’m in a very lonely and scary place right now. Thanks :)
marshamd59, November 17, 2018 9:57am EST
Dear MrsBaker - I’m so sorry to hear of all you’ve been going through. These kinds of diagnosis are always scary especially at first when you’re still waiting for answers. Try not to worry too much about the genetic screening until you get the final results. I know it’s hard not too, but worrying in itself is not healthy for us. Be encouraged by all the good technology and medication available today that keep people with our condition alive much, much longer. I was diagnosed at age 45 and everything I read was 5 year life expectancy, but I just turned 59 and still here. I don’t have the Lamin a/c gene, but I have dilated cardiomyopathy and with and enlarged heart, Afib and had to have my valve repaired. I have a pacemaker/defibrillator in case of the fatal arrhythmia you talked about. All these things have kept me going. So don’t loss hope. Be hopeful, do things to keep you as heathly as possible. Let us know what you find out from you genetic testing. We are all here for you!
Take care my dear.
Mrsbaker, November 17, 2018 3:03pm EST
Thank you for replying. I thought this forum wasn’t active.
It is all horrendous. I had just got my head around the idea of “heart failure” to be stumped with genetic screening for a condition that causes cardiomyopathy but has worse prognosis. The Lamin a/c Gene basically deteriorates the heart much faster.
I just don’t know where to go for answers or to ease my mind. Xx
hope you are doing ok xx
AHAASAKatie, November 19, 2018 8:53am EST
Please know that we are here with you, and want to know how your doctor's appointments go and support you through this. I want to provide the resources we have for cardiomyopathy for you. I also found this article on the NIH website, Current insights into LMNA cardiomyopathies: Existing models and missing LINCs which, while super scholarly does have some good information that might help you come up with more detailed questions to ask your doctor. Have you shared your specific concerns with your doctor or medical team?
Please let me know how else I can help and be of assistance. best Katie