ArticlePloS one2017
High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 2 of them syntheses that pooled it.
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Who cites it
28 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Arrhythmogenic Right Ventricular Cardiomyopathy in Pediatric Patients: An Important but Underrecognized Clinical Entity.Frontiers in pediatrics · 2021Pooled it
- Pooled it
- Rare Variant Genetics and Dilated Cardiomyopathy Severity: The DCM Precision Medicine Study.Circulation · 2023Trial
- Disease models and AAV therapies ofMolecular therapy. Advances · 2026Review
- Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature.Italian journal of pediatrics · 2024Review
- Prevalence of Genetically Associated Dilated Cardiomyopathy: A Systematic Literature Review and Meta-Analysis.Cardiology research · 2024Article
- Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies.Scientific reports · 2024Review
- Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems.Circulation. Genomic and precision medicine · 2024Review
- FLNC Associated Restrictive Cardiomyopathy and Hypertrabeculation, a Rare Association.Arquivos brasileiros de cardiologia · 2024Article
- TTN novel splice variant in familial dilated cardiomyopathy and splice variants review: a case report.Frontiers in cardiovascular medicine · 2024Article
- The Genetic Evaluation of Dilated Cardiomyopathy.Structural heart : the journal of the Heart Team · 2023Review
- Disruption of the nuclear localization signal in RBM20 is causative in dilated cardiomyopathy.JCI insight · 2023Article
- Compound HeterozygousInternational journal of molecular sciences · 2022Article
- Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.American journal of medical genetics. Part A · 2022Article
- Understanding the molecular basis of cardiomyopathy.American journal of physiology. Heart and circulatory physiology · 2022Review
- Plakophilin-2 truncating variants impair cardiac contractility by disrupting sarcomere stability and organization.Science advances · 2021Article
- De Novo Missense Mutations inInternational journal of molecular sciences · 2021Article
- Childhood onset nexilin dilated cardiomyopathy: A heterozygous and a homozygous case.American journal of medical genetics. Part A · 2021Review
- A Novel HomozygousFrontiers in pediatrics · 2021Article
- Distinct Myocardial Transcriptomic Profiles of Cardiomyopathies Stratified by the Mutant Genes.Genes · 2020Article
Corrections and comments
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Authors and funding
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cardiomyopathies might lead to end-stage heart disease with the requirement of drastic treatments like bridging up to transplant or heart transplantation. A not precisely known proportion of these diseases are genetically determined. We genotyped 43 index-patients (30 DCM, 10 ARVC, 3 RCM) with advanced or end stage cardiomyopathy using a gene panel which covered 46 known cardiomyopathy disease genes. Fifty-three variants with possible impact on disease in 33 patients were identified. Of these 27 (51%) were classified as likely pathogenic or pathogenic in the MYH7, MYL2, MYL3, NEXN, TNNC1, TNNI3, DES, LMNA, PKP2, PLN, RBM20, TTN, and CRYAB genes. Fifty-six percent (n = 24) of index-patients carried a likely pathogenic or pathogenic mutation. Of these 75% (n = 18) were familial and 25% (n = 6) sporadic cases. However, severe cardiomyopathy seemed to be not characterized by a specific mutation profile. Remarkably, we identified a novel homozygous PKP2-missense variant in a large consanguineous family with sudden death in early childhood and several members with heart transplantation in adolescent age.
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