DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies.

doi:10.1161/CIRCGEN.123.004221

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Article

DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies.

Circulation. Genomic and precision medicine - 1 Oct 2023

Johnson Renee, Otway Robyn, Chin Ephrem, Horvat Claire, Ohanian Monique, Wilcox Jon A L, Su Zheng, Prestes Priscilla, Smolnikov Andrei, Soka Magdalena, Guo Guanglan, Rath Emma, Chakravorty Samya, Chrzanowski Lukasz, Hayward Christopher S, Keogh Anne M, Macdonald Peter S, Giannoulatou Eleni, Chang Alex C Y, Oates Emily C, Charchar Fadi, Seidman Jonathan G, Seidman Christine E, Hegde Madhuri, Fatkin Diane

Abstract excerpt

BACKGROUND: Variants in the DMD gene, that encodes the cytoskeletal protein, dystrophin, cause a severe form of dilated cardiomyopathy (DCM) associated with high rates of heart failure, heart transplantation, and ventricular arrhythmias. Improved early detection of individuals at risk is needed. METHODS: Genetic testing of 40 male probands with a potential X-linked genetic cause of primary DCM was undertaken...

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PMID: 37671549
DOI: 10.1161/CIRCGEN.123.004221
PMCID: PMC10592075

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