Congenital Heart Defect with Abdominal Situs Inversus - hereditary question

[kerry26]

Hi All,

My boyfriend was born with congenital heart disease and later on they discovered that he also has abdominal situs inversus. He is 25 yrs old and had a pacemaker fitted 11 years ago. Since then he has had much better health but suffers from pins and needles, mucus in the lungs and some shortness of breath and tightness of the chest. Since I have only recently started reading about his condition I am hoping you can share your thoughts on it. Do you know of anyone with the same conditions? I am concerned about his life expectancy, quality of life and if we have children will they be affected or carriers? I have read that there is a 50% chance our child would be affected if i was a carrier. I do not think I am a carrier but have not been tested yet.

I would appreciate any advice on this matter as it is all relatively new to me and i do not work in the medical profession.

Thanks.

[srik7]

Hi, I am a 30yr old male. I was born with dextro cardia situs inversus. It wasn't even detected till I was 4yrs old. I suffered from frequent sinusitis problems when in college and I have suffered from cold/bronchitis since I was 11years old. I was operated when I was 19yrs old for correcting the septum deviation in my nose. That almost took care of the sinusitis problem. The doctor in his report mentioned that I possibly had the Kartagener syndrome. I read online that this syndrome suggests that the cilia movement during embryonic stage wasn't proper resulting in situs inversus. Also read online that due to improper cilia movement is a concern for reproduction. But now I am 30yrs old and we are expecting a baby early next year. And I have never had any problem what so ever leading a normal life. I do have minor allergy / sinus problems but not any diff from ppl without situs inversus. Hope this helps.

[BrokenPen]

Regarding your bf condition, Situs Inversus in itself is not a condition. The organ places are changed and there’s nothing to worry about it.

Since he was diagnosed long ago about his heart condition and was treated, you don’t need to worry about this issue too.  Pace makers are inserted in a vast group of cardiac patient and it has never interfered with any aspect of their life.

About his chest condition, I think that he needs to undergo more investigation because what you are mentioning indicates some dysfunction in the cilia. The function of the cilia is to wash away any mucous and prevent its accumulation. Some conditions associated with the cilia motility are associated with infertility, thus more investigation should be carried out to exclude such condition.

You mentioned he was complaining from large quantity of mucous in his chest, and consequently, this mucous will cause his shortness of breath.
This accumulation of mucous inside his lungs present a good media for bacterial growth and as a result, a higher risk for recurrent chest infection. This recurrent chest infection is the factor that would affect his life expectancy. He can deal with it by undergoing regular chest physiotherapy and live in a well ventilated environment. A pulmonologist would give you a better opinion.

Regarding yourself, supposing that you are not a carrier of the disease, all your children would be carriers of the disease. If you are a carrier, you have a risk of 50% to get children affected with this disease. This means that whenever you get pregnant, you have 50% risk of getting this child affected.

I hope this would have been of some help to you.