ArticleClinical research in cardiology : official journal of the German Cardiac Society2011
Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.
Article in Clinical research in cardiology : official journal of the German Cardiac Society, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 55 citations in OpenAlex.
- Heterozygous desmoplakin (BMJ case reports · 2024Article
- A Novel Variant in theClinical, cosmetic and investigational dermatology · 2023Article
- Article
- Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.International journal of molecular sciences · 2022Review
- Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.Orphanet journal of rare diseases · 2021Article
- Variant NAXOS-Carvajal Syndrome with Rare Additional Features of Systemic Bulla and Brittle Nails: A Case Report and Literature Review.Internal medicine (Tokyo, Japan) · 2021Review
- Left Ventricular Noncompaction Syndrome: Genetic Insights and Therapeutic Perspectives.Current cardiology reports · 2020Review
- Comprehensive Risk Management in Arrhythmogenic Cardiomyopathy Associated With Autosomal Dominant Carvajal Syndrome: Protecting Families.JACC. Case reports · 2020Article
- Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.International journal of molecular sciences · 2019Review
- Clinical implications of sarcomere and nonsarcomere gene variants in patients with left ventricular noncompaction cardiomyopathy.Molecular genetics & genomic medicine · 2019Article
- Genotype-Positive Status Is Associated With Poor Prognoses in Patients With Left Ventricular Noncompaction Cardiomyopathy.Journal of the American Heart Association · 2018Observational
- A mutant HCN4 channel in a family with bradycardia, left bundle branch block, and left ventricular noncompaction.Heart and vessels · 2018Article
- Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors.Nature reviews. Cardiology · 2017Review
- Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe).Molecular genetics and metabolism reports · 2016Article
- Prevent Sudden Death in Carvajal Syndrome With Left Ventricular Hypertrabeculation/Noncompaction.Iranian journal of pediatrics · 2016Article
- Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.Human molecular genetics · 2016Article
- Dsp rul: a spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome.Experimental and molecular pathology · 2015Article
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Two sons of a consanguineous marriage developed biventricular cardiomyopathy. One boy died of severe heart failure at the age of 6 years, the other was transplanted because of severe heart failure at the age of 10 years. In addition, focal palmoplantar keratoderma and woolly hair were apparent in both boys. As similar phenotypes have been described in Naxos disease and Carvajal syndrome, respectively, the genes for plakoglobin (JUP) and desmoplakin (DSP) were screened for mutations using direct genomic sequencing. A novel homozygous 2 bp deletion was identified in an alternatively spliced region of DSP. The deletion 5208_5209delAG led to a frameshift downstream of amino acid 1,736 with a premature truncation of the predominant cardiac isoform DSP-1. This novel homozygous truncating mutation in the isoform-1 specific region of the DSP C-terminus caused Carvajal syndrome comprising severe early-onset heart failure with features of non-compaction cardiomyopathy, woolly hair and an acantholytic form of palmoplantar keratoderma in our patient. Congenital hair abnormality and manifestation of the cutaneous phenotype in toddler age can help to identify children at risk for cardiac death.
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