Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Topics Community

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...

Topics

Humans
Female
Desmoplakins
Adolescent
Mutation
Arrhythmogenic Right Ventricular Dysplasia
Electrocardiography
Pedigree
DNA
Death, Sudden, Cardiac
Tachycardia, Ventricular

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Diagnosis, Differential

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 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel familial pathogenic desmoplakin (DSP) gene mutation (c.4751_4752del) presenting as "hot-phase" left-dominant arrhythmogenic cardiomyopathy.PMID 40321014Read ↗

A 45-year-old man with sudden cardiac death, cutaneous abnormalities and a rare desmoplakin mutation: a case report and literature review.Semantic proximity Read ↗

Left-dominant arrhythmogenic cardiomyopathy due to desmoplakin mutation: a case report.Semantic proximity Read ↗

Desmoplakin Cardiomyopathy: Comprehensive Review of an Increasingly Recognized EntitySemantic proximity Read ↗

DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian CohortSemantic proximity Read ↗

Desmoplakin cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy: two distinct forms of cardiomyopathy?Semantic proximity Read ↗

Next-Generation Sequencing Identified Novel Desmoplakin Frame-shift Variant in Patients with Arrhythmogenic CardiomyopathySemantic proximity Read ↗

Hot phase episodes in arrhythmogenic cardiomyopathy: More than just a desmoplakin issue?Semantic proximity Read ↗

Clinical profile and long-term follow-up of a cohort of patients with desmoplakin cardiomyopathy.Semantic proximity Read ↗

Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.Semantic proximity Read ↗

Desmoplakin and clinical manifestations of desmoplakin cardiomyopathySemantic proximity Read ↗

Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy.Semantic proximity Read ↗

Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.