Genetic Characterization of Dilated Cardiomyopathy in Romanian Adult Patients
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Le résumé fourni par la source
Dilated cardiomyopathy (DCM) represents a group of disorders affecting the structure and function of the heart muscle, leading to a high risk of heart failure and sudden cardiac death (SCD). DCM frequently involves an underlying genetic etiology. Genetic testing is valuable for risk stratification, treatment decisions, and family screening. Romanian population data on the genetic etiology of DCM are lacking. We aimed to investigate the genetic causes for DCM among Romanian adult patients at tertiary referral centers across the country. Clinical and genetic investigations were performed on adult patients presenting to tertiary hospitals in Romania. The genetic investigations used next-generation sequencing panels of disease-associated DCM genes. A total of 122 patients with DCM underwent genetic testing. The mean age at DCM diagnosis was 41.6 ± 12.4 years. The genetic investigations identified pathogenic or likely pathogenic variants in 50.8% of participants, while 25.4% had variants of unknown significance. Disease-causing variants in 15 genes were identified in people with DCM, with 31 previously unreported variants. Variants in TTN, LMNA, and DSP explained 75% of genetic causes for DCM. In total, 52.4% of patients had a family history of DCM/SCD. Left ventricular ejection fraction of <35% was observed in 41.9% of patients with disease-causing variants and 55% with negative or uncertain findings. Further genotype-phenotype correlations were explored in this study population. The substantial percentage (50.8%) of disease-causing variants identified in patients with DCM acknowledges the importance of genetic investigations. This study highlights the genetic landscape in genes associated with DCM in the Romanian population.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Genetic Characterization of Dilated Cardiomyopathy in Romanian Adult Patients
- Date Crossref
- 22/02/2024
- Éditeur
- MDPI AG
- 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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Victor Babeș University of Medicine and Pharmacy Timișoara pays non établi dans la noticeUniversité ou école supérieure
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Carol Davila University of Medicine and Pharmacy pays non établi dans la noticeUniversité ou école supérieure
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Institutul Clinic Fundeni pays non établi dans la noticeÉtablissement de santé
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University of Medicine and Pharmacy of Craiova pays non établi dans la noticeUniversité ou école supérieure
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University of Craiova pays non établi dans la noticeUniversité ou école supérieure
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Grigore T. Popa University of Medicine and Pharmacy pays non établi dans la noticeUniversité ou école supérieure
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Polytechnic University of Timişoara pays non établi dans la noticeUniversité ou école supérieure
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Camera de Comerț Industrie și Agricultură Timișoara pays non établi dans la noticeOrganisme public
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University of Medicine and Pharmacy “Victor Babeș” Department of Cardiology pays non établi dans la noticeUniversité ou école supérieure
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University of Medicine and Pharmacy ‘Carol Davila’ Department of Cardiology pays non établi dans la noticeUniversité ou école supérieure
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Emergency Institute for Cardiovascular Diseases ‘Prof.dr.C.C.Iliescu’ Expert Center for Rare Cardiac Genetic Diseases pays non établi dans la noticeStructure de recherche
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University of Medicine and Pharmacy 'Carol Davila' Department of Cardiology pays non établi dans la noticeUniversité ou école supérieure
Victor Babeș University of Medicine and Pharmacy Timișoara, Carol Davila University of Medicine and Pharmacy et Institutul Clinic Fundeni, avec 9 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.