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Genetic Screening Reveals Heterogeneous Clinical Phenotypes in Patients with Dilated Cardiomyopathy and Troponin T2 Variants
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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10145473/ https://www.ncbi.nlm.nih.gov/pubmed/37108997 http://dx.doi.org/10.3390/jpm13040611 |
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author | Weis, Angelika Krueck, Svenja Dombrowsky, Gregor Schänzer, Anne Jux, Christian Uebing, Anselm Voges, Inga Hitz, Marc-Phillip Rupp, Stefan |
author_facet | Weis, Angelika Krueck, Svenja Dombrowsky, Gregor Schänzer, Anne Jux, Christian Uebing, Anselm Voges, Inga Hitz, Marc-Phillip Rupp, Stefan |
author_sort | Weis, Angelika |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-10145473 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-101454732023-04-29 Genetic Screening Reveals Heterogeneous Clinical Phenotypes in Patients with Dilated Cardiomyopathy and Troponin T2 Variants Weis, Angelika Krueck, Svenja Dombrowsky, Gregor Schänzer, Anne Jux, Christian Uebing, Anselm Voges, Inga Hitz, Marc-Phillip Rupp, Stefan J Pers Med Brief Report 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. MDPI 2023-03-31 /pmc/articles/PMC10145473/ /pubmed/37108997 http://dx.doi.org/10.3390/jpm13040611 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Brief Report Weis, Angelika Krueck, Svenja Dombrowsky, Gregor Schänzer, Anne Jux, Christian Uebing, Anselm Voges, Inga Hitz, Marc-Phillip Rupp, Stefan Genetic Screening Reveals Heterogeneous Clinical Phenotypes in Patients with Dilated Cardiomyopathy and Troponin T2 Variants |
title | Genetic Screening Reveals Heterogeneous Clinical Phenotypes in Patients with Dilated Cardiomyopathy and Troponin T2 Variants |
title_full | Genetic Screening Reveals Heterogeneous Clinical Phenotypes in Patients with Dilated Cardiomyopathy and Troponin T2 Variants |
title_fullStr | Genetic Screening Reveals Heterogeneous Clinical Phenotypes in Patients with Dilated Cardiomyopathy and Troponin T2 Variants |
title_full_unstemmed | Genetic Screening Reveals Heterogeneous Clinical Phenotypes in Patients with Dilated Cardiomyopathy and Troponin T2 Variants |
title_short | Genetic Screening Reveals Heterogeneous Clinical Phenotypes in Patients with Dilated Cardiomyopathy and Troponin T2 Variants |
title_sort | genetic screening reveals heterogeneous clinical phenotypes in patients with dilated cardiomyopathy and troponin t2 variants |
topic | Brief Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10145473/ https://www.ncbi.nlm.nih.gov/pubmed/37108997 http://dx.doi.org/10.3390/jpm13040611 |
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