PMC6332775_01
A, Chest X-ray demonstrates cardiomegaly, pulmonary congestion, and left pleural effusion. B, ECG demonstrates sinus tachycardia with premature atrial complexes, biatrial enlargement, ST elevation in inferior leads, and T-wave inversion in lateral leads. C and D, Echocardiogram demonstrates severely dilated left and right ventricles with prominent left ventricular trabeculations. E, Gross anatomy of explanted heart demonstrates dilated thin-walled RV and dilated globular LV. F, LV chamber demonstrates severe dilation and a hypertrebeculated LV apex and free wall. Left ventricular assist device insertion site excision is seen at the apex. G and H, High-resolution gross image and histologic view of the RV free wall shows fibro-fatty infiltration of the myocardium with sparing of the subendocardium
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The patient's chest radiograph showed pulmonary congestion, left pleural effusion, and an enlarged cardiac silhouette (Figure 1A). Electrocardiogram showed sinus tachycardia with premature atrial complexes, biatrial enlargement, ST elevation in inferior leads, and T-wave inversion in lateral leads (Figure 1B). Prominent LV trabeculations were noted (Figure 1C,D). Gross anatomic and microscopic evaluation of the explanted heart showed left ventricular hypertrabeculation (Figure 1E,F). In addition, extensive fibro-fatty infiltration of right ventricle inflow and outflow sections with subendocardial sparing was found consistent with ARVC (Figure 1G,H).
A, Pedigree showing the proband (III, 1). He does not have any known relatives with cardiomyopathy. His father (II, 1) passed at age 58 of myocardial infarction. MI, myocardial infarction; CM, cardiomyopathy. B, A flow diagram demonstrating the method by which multiple cardiomyopathy variants can be reanalyzed to determine their potential for monogenic disease pathogenicity
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Confirmatory postmortem testing of these variants in the proband's father was positive for SYNE2-S6472L variant (Figure 2A).