Highlights that a DSP variant can present with rapid sustained monomorphic ventricular tachycardia as the first manifestation of isolated arrhythmogenic left ventricular cardiomyopathy.
DSP variants merit consideration in ALVC; leaves open risk-stratification utility pending larger cohorts.
Arrhythmogenic cardiomyopathy (ACM) encompasses heart muscle diseases associated with potentially life-threatening ventricular tachyarrhythmias occurring out of proportion to the degree of underlying disease. The most classical disease is arrhythmogenic right ventricular cardiomyopathy (ARVC), whereas biventricular ACM as well as left-dominant forms (arrhythmogenic left ventricular cardiomyopathy, ALVC) have been increasingly recognized. Genetic variants in the desmoplakin (DSP) gene, coding for an integral part of the desmosome and the resultant disruption of intermediate filament binding, were shown to be associated with ACM, including ALVC.1 In this paper, we report a DSP variant associated with rapid sustained monomorphic ventricular tachycardia as first manifestation in a young female patient with isolated ALVC without right ventricle (RV) involvement.
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Guan et al. (2023) studied this question.
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