Journal article

Publication year: 2023

Journal: Journal of Personalized Medicine

Volume number: 13

Issue number: 4

eISSN: 2075-4426

Open access status: Gold

DOI Link: https://doi.org/10.3390/jpm13040611

Publisher: MDPI

Abstract: 
Background: Cardiomyopathies (CMs) are a heterogeneous and severe group of diseases that shows a highly variable cardiac phenotype and an incidence of app. 1/100.000. Genetic screening of family members is not yet performed routinely. Patients and methods: Three families with dilated cardiomyopathy (DCM) and pathogenic variants in the troponin T2, Cardiac Type (TNNT2) gene were included. Pedigrees and clinical data of the patients were collected. The reported variants in the TNNT2 gene showed a high penetrance and a poor outcome, with 8 of 16 patients dying or receiving heart transplantation. The age of onset varied from the neonatal period to the age of 52. Acute heart failure and severe decompensation developed within a short period in some patients. Conclusion: Family screening of patients with DCM improves risk assessment, especially for individuals who are currently asymptomatic. Screening contributes to improved treatment by enabling practitioners to set appropriate control intervals and quickly begin interventional measures, such as heart failure medication or, in selected cases, pulmonary artery banding.

Harvard Citation style: Weis, A., Krueck, S., Dombrowsky, G., Schaenzer, A., Jux, C., Uebing, A., et al. (2023) Genetic Screening Reveals Heterogeneous Clinical Phenotypes in Patients with Dilated Cardiomyopathy and Troponin T2 Variants, Journal of Personalized Medicine, 13(4), Article 611. https://doi.org/10.3390/jpm13040611

APA Citation style: Weis, A., Krueck, S., Dombrowsky, G., Schaenzer, A., Jux, C., Uebing, A., Voges, I., Hitz, M., & Rupp, S. (2023). Genetic Screening Reveals Heterogeneous Clinical Phenotypes in Patients with Dilated Cardiomyopathy and Troponin T2 Variants. Journal of Personalized Medicine. 13(4), Article 611. https://doi.org/10.3390/jpm13040611