Homozygous TNNI3 frameshift variant in a consanguineous family with lethal infantile dilated cardiomyopathy
Lilia Kraoua,
Assaad Louati,
Sarra Ben Ahmed
et al.
Abstract:BackgroundDilated cardiomyopathy (DCM) is characterized by dilatation of the left ventricle, systolic dysfunction, and normal or reduced thickness of the left ventricular wall. It is a leading cause of heart failure and cardiac death at a young age. Cases with neonatal onset DCM were correlated with severe clinical presentation and poor prognosis. A monogenic molecular etiology accounts for nearly half of cases.Family descriptionHere, we report a family with three deceased offspring at the age of 1 year old. T… Show more
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