What is the clinical evidence from this study?

Study design: Case Report. Population: Arrhythmogenic right ventricular dysplasia (ARVD), skin disorder, and woolly hair (n=103). Intervention: Desmoplakin gene mutation (Gly2375Arg) vs. Normal allele (healthy controls and unaffected family members). Primary outcome: Identification of genetic mutation causing the disorder.

What question did this study set out to answer?

This research aims to identify the genetic causes of arrhythmogenic right ventricular dysplasia and associated skin disorders.

July 5, 2026Journal of the American College of Cardiology

A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair

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Key result

Homozygous desmoplakin mutation Gly2375Arg linked to familial ARVD, woolly hair, and skin disorder.

n=103

Why the study?

The study was conducted to analyze the genetic disorder of a family with cardiomyopathy, skin disorder, and woolly hair.

Design

Genetic linkage and sequencing family study

Authors

RARonny AlcalaiHebrew University of Jerusalem SMShulamit MetzgerHebrew University of Jerusalem SRShimon RosenheckTel Aviv University

Discussion

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Implication

May support targeted genetic testing in syndromic ARVD; leaves open causal validation in prospective cohorts.

Key Points

This research aims to identify the genetic causes of arrhythmogenic right ventricular dysplasia and associated skin disorders.
Genetic analysis of individuals with arrhythmogenic right ventricular dysplasia and related conditions.
Evaluation of mutation effects on tissue function and structure.
Comparison with control groups to ascertain the impact of identified mutations.
Identified a recessive mutation in the desmoplakin gene associated with arrhythmogenic right ventricular dysplasia.
Observed skin disorders and woolly hair in individuals carrying the mutation.
Findings suggest a link between desmoplakin dysfunction and multi-systemic disorders.

Study Design

Type

Case Report (n=103)

PICO

Population

1 patient with ARVD, woolly hair, and skin disorder, along with 12 family members and 90 healthy controls, analyzed for genetic mutations.

Exposure / Comparator

Desmoplakin gene mutation (Gly2375Arg) vs Normal allele (healthy controls and unaffected family members)

Primary Outcome

Identification of genetic mutation causing the disorder

Cite This Study

Alcalai et al. (2003) conducted a case report in Arrhythmogenic right ventricular dysplasia (ARVD), skin disorder, and woolly hair (n=103). Desmoplakin gene mutation (Gly2375Arg) vs. Normal allele (healthy controls and unaffected family members) was evaluated on Identification of genetic mutation causing the disorder. A homozygous missense mutation (Gly2375Arg) in the desmoplakin gene was identified as the cause of familial arrhythmogenic right ventricular dysplasia, woolly hair, and skin disorder.

synapsesocial.com/papers/6a49cd24b40642e76ec27a1a https://doi.org/10.1016/s0735-1097(03)00628-4

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A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair

Discussion

Member takes

Implication

Key Points

Study Design

PICO

Cite This Study

A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair

Discussion

Member takes

Implication

Key Points

Study Design

PICO

Cite This Study

Also Consider

Also Consider