A Novel Homozygous Mutation of the Desmoplakin Gene With Biventricular Arrhythmogenic Cardiomyopathy

Figures

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  Figure 1. 12-Lead Electrocardiogram at Admission The 12-lead electrocardiogram shows QRS fragmentation, inverted T-waves in V3-V5 leads, and ectopics with right bundle branch block morphology and superior axis.

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  Figure 2. Cardiac Magnetic Resonance Imaging at Admission (A) T2-weighted midventricular short axis image without evidence of myopericardial inflammation. (B) Midventricular short axis postcontrast image with nonischemic pattern of ringlike late gadolinium enhancement (LGE) and (C) 4-chamber postcontrast image with evidence of LGE also of the right ventricle lateral basal wall. LGE is highlighted by white arrows.

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  Figure 3. Clinical Manifestations The patient did not display wooly hair as described in other patients carrying a desmoplakin mutation (A), but he showed a mild form of palmoplantar keratoderma (B and C, white arrows).

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  Figure 4. Genetic Family Tree Solid-filled symbols stand for patients carrying homozygous desmoplakin variant (DSP.c6328 G>C), and half-filled symbols represent patients with the same variant but in heterozygosis.