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

Figures

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  Fig. 1. Cardiac features of the patient. a, b Electrocardiograms show ventricular tachycardia with a left bundle branch block (a) and negative T-waves in leads V1-V4 (arrows) (b). c–f T1-weighted black blood (T1WBB) magnetic resonance imaging (MRI) with (d, f) and without (c, e) spectral attenuated inversion recovery (SPAIR) to enhance the contrast of fat tissue. Four chamber views (c, d) and short-axis views (e, f) are shown. Mild concentric left ventricular hypertrophy, dilated right ventricle, and ectopic fat deposition (arrowheads) are noted.

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  Fig. 2. Pedigree and the variant detected in the proband. a The proband (III-1) was diagnosed with ARVC. His sister (III-3) died of cardiomyopathy of unknown cause at 27 years of age. No other family members had cardiac abnormalities. His parents were in a consanguineous marriage, and his paternal grandfather and maternal grandmother were blood relatives. Family history and clinical information were obtained from interviewing the proband. P: proband. Roman numerals represent generation numbers; arabic numerals indicate individual numbers. Females are represented by circles, and males are represented by squares. Obligate carriers of the DSG2 variant are indicated by dotted squares or circles, and diagonal lines denote deceased individuals. b Sanger sequencing of the DSG2 gene confirmed the presence of the homozygous c.1592T > G (p.Phe531Cys) variant in the proband.