What is this heart condition called?

October 3, 2009 7:29 AM

What is the name of this heart condition, and is it genetic? The main artery supplying blood to the heart isn't developed properly in utero, resulting in major surgery and/or death of the baby post birth.

Back in 1981 my mother gave birth to a baby boy with this disorder. The pregnancy appeared normal, but he only survived for 8 days after being born. My mother can't remember the clinical name of the disease, all we have is this description: The main artery in/to the heart was not developed, resulting in a fatal heart failure. Apparently a cure was developed only a few years later, in the mid 80s. It involves surgery, and can now be detected in utero and treated before the baby is born. The rest of my family members are healthy, but we have a very small sample size so I don't think a hereditary link would be obvious. As an added note, all the other children (incl cousins and children of cousins) are female.

Clearly, IANAD or med/nursing student, so I don't know where to even start googling. Are you? I am especially keen to know whether or not this condition is hereditary, in which case I need to watch out for it when I have children of my own. Thanks!

posted by heytch to health & fitness (8 answers total)

IANAD either, but doesn't this fall into the category of congenital heart defects?
posted by jon1270 at 7:50 AM on October 3, 2009

It could be truncus arterious, but your description is not very specific. The arteries leave the heart, and there are two (in addition to the coronary arteries). It also could have been pulmonary atresia. There are not really cures for these types of defects, but there are surgeries that can palliate the condition and allow the baby to live and many times have a high quality of life. Since many of the newer surgical techniques have only been used for the last ~15-20 years the long term outcomes are not known.
posted by sulaine at 7:56 AM on October 3, 2009

Second question- is it genetic? Most CHDs are of unknown origin. It is likely that it is a combination of genetic susceptibility and environmental factors. If this was the only case of CHD in your family, then I would not worry about it in respect to your own reproduction, but you may request a fetal echocardiogram after 20 weeks to be screened for heart defects.

Many many infants with CHD have siblings with normal hearts.
posted by sulaine at 7:59 AM on October 3, 2009

What a tragic story. I really feel for you, and I can see why you're so interested in the subject.

You may want to look at this list of Wikipedia articles on congenital heart defects, but the Norwood Procedure to correct hypoplastic left heart syndrome was developed around that time. For the latter article (if that is the syndrome you're concerned about), I'd recommend looking at the resources at the bottom of the page for more information and support.

You might also be interested in this organization: Little Hearts.

It might be useful to have your mother request a copy of the medical records (for both her and her son) from that time. Her current doctor might have them, but if not, the original hospital might. Their records office could tell you what their policy is, etc. By getting the documentation with the details, you would have specific information that you or other relatives could use when consulting with doctors. Since there are so many conditions and so many genetic factors, the answer to "Is it hereditary?" might frustratingly be "it depends" until more is known. Anyway, your doctor would be able to refer you to genetic counseling, if that would be appropriate. Hopefully, this will help get you started. I wish you the best of luck.
posted by irv4oh at 8:20 AM on October 3, 2009

Blue baby syndrome? In the book Mozart in the Jungle, the author in part describes the life of pianist Samuel Sanders and his lifelong heart problems due to being a Blue Baby.
posted by Melismata at 11:14 AM on October 3, 2009

I'm almost certain the condition in question is hypoplastic left heart syndrome, which involves an underdeveloped left ventricle and aorta (the "main artery" you mentioned). My cousin, born in 1987, was one of the earlier survivors of the Norwood Procedure.
posted by decagon at 11:41 AM on October 3, 2009

Here is a pretty comprehensive list of major congenital coronary artery defects.
posted by i_am_a_Jedi at 11:45 AM on October 3, 2009

Thanks guys, very helpful!

Sorry about the vague description, my mother's recollection is all I have to go by.

Hypoplastic left heart syndrome sounds like it fits the bill in terms of when the Norwood procedure was developed. Looks like my brother missed it by only a few months..

I'll present this to my mum and also have her ask for the records.
posted by heytch at 4:40 PM on October 3, 2009