told there is a hereditary, congenital heart issue in the family - but which is this? please help

[Jennifer8]

I am a 35 year old woman who has a history of early emphysema (I"m a non-smoker) and whose father died suddenly at age 45 of a heart attack.

I have just found out that one of my uncles also died at age 45 of a heart related issue, and that upon autopsy a doctor told his family that he had a congenital heart condition that could only be found on echocardiogram and which is hereditary. He urged all family members to be tested for this same thing.

I am hoping that by sharing the health history of my father and his siblings, someone may be able to offer some suggestions as to which condition my Uncle had.

Very sincere thanks in advance for any input that you may be able to give me.

Sibling 1 (my father) -
heart attack and subsequent death, age 45
autopsy showed "some sign of heart disease"

Sibling 2 -
- heart-related death, age 45
- congenital abnormality in which the cardiac arteries and veins to remain small, causing the heart muscle to become larger than normal- Dr. recommended all relatives be tested to look for the same abnormality, and said it can only be found on an echocardiogram

Sibling 3 -
- abdominal aortic aneurism repaired with a graft
- heart bypass surgery
- high blood pressure secondary to a constricted renal (kidney) artery which was repaired with a graft
- pacemaker for slow heart rate and very low blood pressure placed later
- lung cancer met. to liver

Sibling 4 -
- died at age 58
- met. liver cancer, from lungs?
- may have been on bp meds

Sibling 5 -
- bypass surgery at 45
- polyps
- may take bp meds

Sibling 6 -
- 73 years old
- takes meds for diabetes and high bp
- has had asthma and lung issues for many years and sinus polyps
- lung cancer found during routine xray for a hernia repair workup- being treated

Sibling 7 -
- 80 years old
- takes thyroid medication
- has a poorly nourished kidney from constricted arteries
- has macular degeneration
- checks blood sugar daily- no meds

Sibling 8 -
- no significant health issues

[Douglas Bogart, MD]

Hypertrophic cardiomyopathy can be an inherited disorder and the diagnosis is made by echocardiogram.  It also sounds like there is vascular disease as well in your family.

[Jennifer8]

I realize that experts do not generally come back once a question has been answered, but I feel compelled to make this post for the benefit of other people browsing this forum.

I just wanted to let everyone know that Hypertrophic Cardiomyopathy IS in fact the name of the condition that my uncle had - your suggestion prompted the memory of my cousins who were able to confirm this is what they were tested for fifteen years ago.

Thank you very much for your help - it could very well save lives as I am one of six children and I have three children of my own - that is now nine people who can be screened for this disease, thanks to you!

[Jennifer8]

Thank you very much for your reply - I will look into hypertrophic cardiomyopathy as well as mentioning this term to my relatives. Hopefully this will jog their memory as to whether this is what was found on my uncle's autopsy.

I wonder whether connective tissue disease and vascular disease can be related in any way, as I have been told by my pumonologist (I also see a rheumatologist) that she suspects I will be diagnosed with Mixed Connective Tissue Disease in the coming years (I currently suffer from Reynaud's phenomenon when it is very cold, I have a bony growth on one knuckle, and I have done two rounds of physical therapy for inflamed hip joints - plus my facet joints at L4-5 are arthritic at age 33).

Thank you very much for your time and expertise!

[Jennifer8]

Hi, I'm still hoping for some input. My extended family members do not remember what the name of this disorder was, as it was diagnosed and all testing of family members was done fifteen years ago. Thank you very much.