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Article

QTc prolongation and family history of sudden death in a patient with desmin cardiomyopathy.

Pacing and clinical electrophysiology : PACE - 1 Dec 2011

Sung Raphael K, Ursell Philip C, Rame J Eduardo, Bailey Helen, Caleshu Colleen, Nussbaum Robert L, Scheinman Melvin M

Abstract excerpt

This case report describes a pregnant female patient who presented with new-onset congestive heart failure symptoms and prolonged QTc, with strong family history of sudden death. Endomyocardial biopsy and genetic testing revealed myocardial desmin accumulation and a previously described mutation in the DES (desmin) gene, as well as variants in two LQT genes, SCN5A and KCNH2. The case highlights the phenotypic...

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Source

Identifiers

PMID: 20636320
DOI: 10.1111/j.1540-8159.2010.02826.x

Genes

DES
KCNH2

Provenance

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