Work

A novel familial pathogenic desmoplakin ( DSP ) gene mutation (c.4751_4752del) presenting as “hot-phase” left-dominant arrhythmogenic cardiomyopathy

Year: 2025

Type: article

Abstract: Desmoplakin, encoded by DSP (Online Mendelian Inheritance in Man [OMIM]: 125647), is a central component of desmosomes. Mutations in DSP have been implicated in the development of arrhythmogenic cardiomyopathy (ACM) and other cutaneous conditions. We report on a rare, myocarditis-like presentation of left-dominant arrhythmogenic cardiomyopathy (LDACM) in a 16-year-old girl with a novel familial frame-shift DSP c.4751_4752del (p.Ala1584Valfs *42, rs2113694794) mutation. The patient developed sustained ventricular tachycardia, which was controlled with amiodarone and required implantation of a dual-chamber transvenous defibrillator for sudden cardiac death (SCD) prophylaxis as her 5-year risk of adverse outcomes was estimated to be 25%. The findings in this patient highlight the importance of including ACM in the differential diagnosis for patients presenting with myocarditis, given that the sequelae of ACM include early development of heart failure (HF), ventricular arrhythmia (VA), and SCD.

Source: Future Cardiology

DOI: 10.1080/14796678.2025.2500835

Authors: Victoria Fanucci, Dhaval Chauhan, Nita Ray Chaudhuri, Hemal M. Nayak, Utkarsh Kohli

Institutions: West Virginia University, West Virginia University Hospitals, Miami Children's Hospital

Language: English

Topic: Cardiovascular Effects of Exercise

Subfield: Cardiology and Cardiovascular Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funder: West Virginia University