Genetic Screening Reveals Heterogeneous Clinical Phenotypes in Patients with Dilated Cardiomyopathy and Troponin T2 Variants.

Autor:	Weis A; Department of Pediatric Cardiology, Intensive Care Medicine and Congenital Heart Disease, Justus Liebig University Giessen, 35390 Giessen, Germany., Krueck S; Department of Pediatric Cardiology, Intensive Care Medicine and Congenital Heart Disease, Justus Liebig University Giessen, 35390 Giessen, Germany., Dombrowsky G; Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital of Schleswig-Holstein, 24105 Kiel, Germany.; Institute of Medical Genetics, Carl von Ossietzky University, 26129 Oldenburg, Germany., Schänzer A; Institute of Neuropathology, Justus Liebig University Giessen, 35390 Giessen, Germany., Jux C; Department of Pediatric Cardiology, Intensive Care Medicine and Congenital Heart Disease, Justus Liebig University Giessen, 35390 Giessen, Germany., Uebing A; Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital of Schleswig-Holstein, 24105 Kiel, Germany.; DZHK (German Centre for Cardiovascular Research), Partner Site Hamburg/Lübeck/Kiel, 24105 Kiel, Germany., Voges I; Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital of Schleswig-Holstein, 24105 Kiel, Germany.; DZHK (German Centre for Cardiovascular Research), Partner Site Hamburg/Lübeck/Kiel, 24105 Kiel, Germany., Hitz MP; Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital of Schleswig-Holstein, 24105 Kiel, Germany.; Institute of Medical Genetics, Carl von Ossietzky University, 26129 Oldenburg, Germany.; DZHK (German Centre for Cardiovascular Research), Partner Site Hamburg/Lübeck/Kiel, 24105 Kiel, Germany., Rupp S; Department of Pediatric Cardiology, Intensive Care Medicine and Congenital Heart Disease, Justus Liebig University Giessen, 35390 Giessen, Germany.
Jazyk:	angličtina
Zdroj:	Journal of personalized medicine [J Pers Med] 2023 Mar 31; Vol. 13 (4). Date of Electronic Publication: 2023 Mar 31.
DOI:	10.3390/jpm13040611
Abstrakt:	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.
Databáze:	MEDLINE
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