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

DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort

27 Jan 2023

Abstract excerpt

Variants in desmoplakin gene (DSP MIM *125647) have been usually associated with Arrhythmogenic Cardiomyopathy (ACM), or Dilated Cardiomyopathy (DCM) inherited in an autosomal dominant manner. A cohort of 18 probands, characterized as heterozygotes for DSP variants by a target Next Generation Sequencing (NGS) cardiomyopathy panel, was analyzed. Cardiological, genetic data, and imaging features were...

Source

Identifiers

PMID: 36768812
DOI: 10.3390/ijms24032490

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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

DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian CohortPMID 36768812Read ↗

Diagnostic Criteria and Disease Staging for Desmoplakin CardiomyopathySemantic proximity Read ↗

Desmoplakin truncations and arrhythmogenic left ventricular cardiomyopathy: characterizing a phenotype.Semantic proximity Read ↗

Desmoplakin Cardiomyopathy in Pediatric Patients: A Distinct, Underrecognized Cohort of Arrhythmogenic Cardiomyopathy.Semantic proximity Read ↗

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

DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy.Semantic proximity Read ↗

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

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 ↗

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

Disease penetrance and phenotypic spectrum of desmoplakin variant carriers in the population.Semantic proximity Read ↗

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

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