BACKGROUND
Survivors of hypoplastic left heart syndrome (HLHS), the most severe form of congenital heart disease, are at high risk for heart failure (HF). HF in early life is a major contributor to mortality in this vulnerable population. However, reliable approaches to identify infants at highest risk for early HF are...
B. Balint, Sudeep D. Sunthankar, Gabrielle Monaco et al.· Journal of the American Coll...· 1 citation
BACKGROUND
Mainstream cardiac genetic testing, in which the treating cardiologist orders and returns multigene panel results without a traditional genetic counseling session, may expand access, but no mainstream program has quantified the operational burden. We quantified high-risk genotypes, variant reclassification,...
O. Kiamanesh, S. Christian, Robert J. H. Miller et al.· Circulation Genomic and Prec...· 0 citations
Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader-Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified. Four highly conserved genes in the region (NIPA1, NIPA2, CYFIP1...
M. Wright, Maria B Padua, Lindsey R Helvaty et al.· American Journal of Medical...· 0 citations
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