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Author

Ava Willoughby

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Sep 2026

Genetic Determinants of Early Heart Failure in Hypoplastic Left Heart Syndrome: A Prospective NC-DEFINE Study.

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. · 1 citation
Case report Open access Aug 2026

Familial Isolated Tetralogy of Fallot Associated With JAG1 Variant: Justifying Phenotype-Agnostic Genetic Workup for Critical Congenital Heart Disease.

Alagille syndrome (ALGS) is a rare, typically multisystem genetic disorder that impacts the liver, heart, eyes, vertebrae, and other areas of development. A clinical diagnosis can be established through defined clinical diagnostic criteria, while a molecular diagnosis requires the presence of a heterozygous pathogenic...

Ava Willoughby, Umamaheswaran Gurusamy, Blythe Moreland et al. · 0 citations

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