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Article

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

Future cardiology - 1 Jun 2025

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

Abstract excerpt

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...

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Share to Arrhythmogenic Right Ventricular Dysplasia
Share to Death, Sudden, Cardiac

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Desmoplakins

Share to Diagnosis, Differential

Share to Electrocardiography

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Share to Tachycardia, Ventricular

Source

Open in PubMed Open full text

Identifiers

PMID: 40321014
DOI: 10.1080/14796678.2025.2500835
PMCID: PMC12506742

Genes

DSP
SCD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 19 Oct 2026.

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