Setting: Left-sided cardiac lesions have a birth prevalence of approximately 1 in 1000 and have been shown to be heritable in pedigree studies. A large microdeletion at 16p12.1 is associated with childhood developmental delay, and initial studies describing this deletion identified left-sided lesions as an enriched phenotype compared with a control population.
Objective: The aim of this study is to determine whether patients with left-sided cardiac lesions have an increased frequency of 16p12.1 microdeletions as compared with control populations.
Design: A cohort of 262 probands with left-sided lesions, including 53 with isolated aortic stenosis/bicuspid aortic valve, 83 with coarctation of the aorta with or without aortic stenosis/bicuspid aortic valve, and 126 with hypoplastic left heart syndrome were assessed for copy number variation at 16p12.1. The control cohort included 595 patients with conotruncal defects as a cardiac control and 971 healthy children.
Results: We detected one patient in the left-sided lesion cohort with a large duplication partially overlapping the reported 16p12.1 microdeletion, along with one patient each in the conotruncal and control cohorts with a deletion in the same region. None of these patients had dysmorphic features, extracardiac malformations, or developmental delay.
Conclusion: In our cohort, structural variation at 16p12.1 was not identified with increased frequency in patients with left-sided lesions as compared with controls.
Keywords: 16p12.1; Congenital Heart Disease; Copy Number Variation; Hypoplastic Left Heart Syndrome; Left-sided Lesions.
© 2013 Wiley Periodicals, Inc.