Familial left ventricular noncompaction cardiomyopathy associated with the p.Asp461Asn MYH7 variant

Figures

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  Figure 1:. Three-generation pedigree of a family with left ventricular noncompaction cardiomyopathy segregating the MYH7 p.Asp461Asn variant. Filled symbols indicate confirmed LVNC (individuals II-1 and II-3), half-filled denotes suspected LVNC (III-4), and unfilled represents unaffected status. Genotype status is shown below each tested member, with carriers including II-1, II-3, III-1, III-2, and III-4, demonstrating autosomal dominant inheritance with incomplete penetrance.

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  Figure 2:. ECG and TTE findings in individuals Ⅱ-1 and Ⅱ-3. A: ECG of Ⅱ-1 presenting sinus rhythm with T-wave abnormalities. Paper speed: 25 mm/s sensitivity: 10 mm/mM. B: ECG of Ⅱ-3 indicating sinus rhythm, left ventricular hypertrophy, and T-wave flattening. Paper speed: 25 mm/s sensitivity: 10 mm/mM. C: TTE of Ⅱ-1 demonstrating left ventricular apical hypertrophy consistent with apical LVNC, mild aortic valve regurgitation, mild bicuspid and tricuspid valve regurgitation, and preserved left ventricular systolic function. D: TTE of Ⅱ-3 indicating features similar to LVNC and suspected right ventricular NCCM, mild bicuspid and tricuspid valve regurgitation, preserved left ventricular function, and reduced longitudinal strain in both left and right ventricular long axes.

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  Figure 3:. ECG and TTE findings in individual Ⅲ-4. A: UCG showing blood-filled sinusoids in the apical segment of the posterior and lateral walls of the left ventricle, with asynergic wall motion. B: ECG demonstrating sinus rhythm with PVCs. Paper speed: 25 mm/s sensitivity: 10 mm/mM.