Mutations in the TCAP gene may lead to restrictive phenotype hypertrophic cardiomyopathy with poor prognosis: case report
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Abstract Background Genetic disorders are a significant cause of cardiomyopathies. Mutations in the TCAP gene (OMIM #604488) encoding the Z-disc protein Telethonin associated with a mixed phenotype of hypertrophic and restrictive cardiomyopathy with poor prognosis have not yet been reported. Case summary A 47-year-old male presented with heart failure symptoms over a year, which had worsened in the past week. He has a familial history of cardiomyopathy, as his mother was diagnosed with restrictive cardiomyopathy (RCM). Transthoracic echocardiography and cardiac magnetic resonance imaging (CMR) revealed non-obstructive hypertrophic cardiomyopathy (HCM) with severe diastolic dysfunction, biatrial enlargement, preserved ejection fraction, and normal chamber size. Endomyocardial biopsy demonstrated cardiomyocyte hypertrophy and focal fibrosis. The patient was diagnosed with hypertrophic cardiomyopathy with a restrictive phenotype (RP-HCM). Whole exome sequencing identified a frameshift TCAP mutation producing a truncated product (p.Glu12fs) in the family. Despite interventions, the patient’s cardiac function progressively deteriorated, leading to his placement on the heart transplant waiting list 1 year later. Discussion In conclusion, we report for the first time that a heterozygous TCAP frameshift mutation resulting in a truncated protein product may contribute to the development of RP-HCM, providing new insights into the genetic basis of cardiomyopathy with mixed phenotypes.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé, mais le titre doit être comparé manuellement.
- Titre Crossref
- Mutations in the <i>TCAP</i> gene may lead to restrictive phenotype hypertrophic cardiomyopathy with poor prognosis: case report
- Date Crossref
- 10/04/2025
- Éditeur
- Oxford University Press (OUP)
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Southern University of Science and Technology pays non établi dans la noticeUniversité ou école supérieure
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Southern Medical University Shenzhen Hospital pays non établi dans la noticeÉtablissement de santé
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Shenzhen Second People's Hospital pays non établi dans la noticeÉtablissement de santé
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Shenzhen People's Hospital (The Second Clinical Medical College Department of Cardiology pays non établi dans la noticeUniversité ou école supérieure
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Guangdong Shenzhen 518020 pays non établi dans la noticeOrganisation à but non lucratif
Southern University of Science and Technology, Southern Medical University Shenzhen Hospital et Shenzhen Second People's Hospital, avec 2 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.