Wilhelmina S. Kerstjens-Frederikse and colleagues present a study to determine the prevalence and phenotypic spectrum of NOTCH1 mutations in left-sided congenital heart disease (LS-CHD). They identified pathogenic mutations in NOTCH1 in 7% of familial LS-CHD and in 1% of sporadic LS-CHD. Their study hightlights a high penetrance; a cardiovascular malformation was found in 75% of NOTCH1 mutation carriers.
Kerstjens-Frederikse, Wilhelmina S. et al. Genetics in Medicine.
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JOHN GARCIA, Invitae
San Francisco, USA