Article
Homozygous TNNI3 frameshift variant in a consanguineous family with lethal infantile dilated cardiomyopathy.
Molecular genetics & genomic medicine - 1 Jun 2024
Kraoua Lilia, Louati Assaad, Ahmed Sarra Ben, Abida Nesrine, Khemiri Monia, Menif Khaled, Mrad Ridha, Zaffran Stéphane, Jaouadi Hager
Abstract excerpt
BACKGROUND: Dilated 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...
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