Desmoplakin related cardiomyopathy with contrasting desmoplakin dermatologic changes: A case series and review of the literature

Introduction

Desmoplakin (DSP) genetic variants cause various cardio-cutaneous phenotypes. DSP related cardiomyopathy (DSP-CM) is a cause of arrhythmogenic cardiomyopathy (ACM). Patient presentation is highly variable, and dermatologic manifestations are often the first sign of impending cardiac dysfunction. A subset DSP-CM patients require advanced cardiac therapies (ACT) such as heart transplantation (HTx).

Case description

Patient 1 is a male neonate who presented at birth with tense bullae and erosions scattered on the body. Genetic panel disclosed two DSP variants. He was diagnosed with DSP-related skin fragility. At age 2.5 years, DSP-CM developed, leading to aborted cardiac arrest and HTx at age 4.

Patient 2 is a 15-year-old male who presented with new onset dilated cardiomyopathy and wooly hair, hypodontia, and onychodystrophy. Genetic testing revealed a DSP variant, which was diagnostic for DSP-CM with woolly hair, keratoderma, and tooth agenesis. He underwent HTx 1 month after presentation.

Discussion

DSP variants cause a distinct form of ACM. Left dominant cardiomyopathy and systolic dysfunction were the primary manifestations in our patients. Pediatric DSP-CM cases are sparse in the literature. We demonstrate that patients with DSP-CM can successfully undergo HTx with special attention to treatment of their dermatologic disease.