New Study on the Incidence of Heart Defects in HLHS Family Members

Dr. Angela Kelle, one of our researchers at the Todd and Karen Wanek Family Program for Hypoplastic Left Heart Syndrome, recently had a study published in the American Journal of Cardiology which examined the occurrence of heart defects in HLHS family members. The study findings have resulted in new recommendations for parents and siblings of those born with HLHS.

Certain congenital heart defects, such as bicuspid aortic valve, require familial screening because studies have shown that these defects can run in families. However, there have not been any recommendations in place for HLHS. In order to see if family members of those born with HLHS also have some kind of heart defect, Dr. Kelle set out to learn more on this issue.

This study used echocardiograms, or images obtained by using sound waves, to screen for possible heart defects. The echocardiograms made it possible for Dr. Kelle and her team to look at the structure and function of each individual’s heart. After screening 152 parents and siblings of 52 patients with HLHS, the team discovered that 11 percent of the family members had some type of heart defect. In 27 percent of families, at least one family member was found to have a heart defect.

Most of the family members with a heart defect were previously undiagnosed and required a follow-up to address their issue. The most common heart defects found included bicuspid aortic valve and enlargement of the ascending aorta. The enlargement of the ascending aorta, part of the largest artery in the body, can lead to an aortic dissection and sudden death. This diagnosis is quite serious and requires close monitoring. Of the family members diagnosed with an enlarged ascending aorta, all were male with an average age of 45.

As a result of the findings from the study, new recommendations suggest that parents and siblings of those born with HLHS have echocardiogram screenings with periodic follow-ups, especially later on in life to prevent possible issues with the ascending aorta. For more information, please contact the program at HLHS@mayo.edu or read the full study.

The Todd and Karen Wanek Family Program for Hypoplastic Left Heart Syndrome (HLHS) is a collaborative network of specialists bonded by the vision of delaying or preventing heart failure for individuals affected by congenital heart defects including HLHS. The specialized team is addressing the various aspects of these defects by using research and clinical strategies ranging from basic science to diagnostic imaging to regenerative therapies.