Familial Incidence of Cardiovascular Malformations in Hypoplastic Left Heart Syndrome

Angela M. Kelle, Muhammad Yasir Qureshi, Timothy Mark Olson, Benjamin W. Eidem, Patrick W. O'Leary

Research output: Contribution to journalArticle

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Abstract

Obstructive left-sided congenital heart lesions exhibit familial clustering, and familial echocardiographic screening for bicuspid aortic valve has become standard practice. Hypoplastic left heart syndrome (HLHS) is a severe left-sided obstructive lesion; however, familial screening is not universally recommended. The purpose of this study was to define the incidence of cardiovascular malformations (CVMs) in first-degree relatives of HLHS probands. First-degree relatives were screened for CVM by transthoracic echocardiography. Screening was completed in 152 family members (97 parents and 55 siblings) of 52 probands. Of these, 17 of 152 (11%) had CVM. Anomalies detected included: bicuspid aortic valve in 5 (3%), isolated dilated ascending aorta in 4 (3%), coarctation of the aorta in 1, partial anomalous pulmonary venous connection in 1, anomalous, intramural coronary artery in 1, bicuspid pulmonary valve in 1, and other anomalies in 4. Most were previously undiagnosed (11 of 17, 65%). Fourteen of 52 families (27%) had ≥1 relative with CVM. Overall, 7 of 55 siblings (13%), 5 of 46 fathers (11%) and 5 of 51 mothers (10%) had CVM. Although the incidence of CVM in first-degree relatives of HLHS probands was lower in this cohort than previously reported, it remained substantial, with at least one additional member having CVM in 27% of families. The frequent occurrence of undiagnosed CVM highlights the importance of routine familial screening in HLHS. In fact, even if screening was done in childhood, it may be appropriate to screen again in the third or fourth decade to exclude isolated enlargement of the ascending aorta.

Original languageEnglish (US)
Pages (from-to)1762-1766
Number of pages5
JournalAmerican Journal of Cardiology
Volume116
Issue number11
DOIs
StatePublished - Dec 1 2015

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Hypoplastic Left Heart Syndrome
Incidence
Aorta
Siblings
Pulmonary Valve
Aortic Coarctation
Mitral Valve
Fathers
Cluster Analysis
Echocardiography
Coronary Vessels
Parents
Mothers
Lung

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Familial Incidence of Cardiovascular Malformations in Hypoplastic Left Heart Syndrome. / Kelle, Angela M.; Qureshi, Muhammad Yasir; Olson, Timothy Mark; Eidem, Benjamin W.; O'Leary, Patrick W.

In: American Journal of Cardiology, Vol. 116, No. 11, 01.12.2015, p. 1762-1766.

Research output: Contribution to journalArticle

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