Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population

Haruka Murakami; Yoko Tanimoto; Kojiro Tanimoto; Satomi Inoue; Taisuke Ishikawa; Naomasa Makita; Kazuki Yamazawa

doi:10.1038/s41439-022-00206-9

Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population

Hum Genome Var. 2022 Aug 8;9(1):28. doi: 10.1038/s41439-022-00206-9.

Authors

Haruka Murakami¹, Yoko Tanimoto², Kojiro Tanimoto², Satomi Inoue¹, Taisuke Ishikawa³, Naomasa Makita³, Kazuki Yamazawa⁴

Affiliations

¹ Medical Genetics Center, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
² Department of Cardiology, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
³ Omics Research Center, National Cerebral and Cardiovascular Center, Suita, Japan.
⁴ Medical Genetics Center, National Hospital Organization Tokyo Medical Center, Tokyo, Japan. kyamazawa@keio.jp.

Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary cardiomyopathy that results in fatal arrhythmias and heart failure. Herein, we report a Japanese patient with ARVC whose parents were blood relatives. Genetic testing identified a homozygous rare variant, c.1592T > G (p.Phe531Cys), of DSG2 that is presumed to be a founder variant among East Asians. Genetic counseling sessions with precise risk assessment and appropriate follow-up programs were provided to the patient and family members.

Abstract

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