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Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants

22 Jan 2020

Abstract excerpt

Familial dilated cardiomyopathy (DCM), clinically characterized by enlargement and dysfunction of one or both ventricles of the heart, can be caused by variants in sarcomeric genes, including TNNC1 (encoding cardiac troponin C, cTnC). Here, we report the case of two siblings with severe, early-onset DCM who were found to have compound heterozygous variants in TNNC1: p.Asp145Glu (D145E) and p.Asp132Asn (D132N),...

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PMID: 32038292
DOI: 10.3389/fphys.2019.01612

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