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Kardiomyopathie im Neugeborenenalter: Forschungsfortschritte eröffnen neue diagnostische Möglichkeiten [Cardiomyopathy in neonatal age: advances in research open up new diagnostic possibilities]

Item Type:Article
Title:Kardiomyopathie im Neugeborenenalter: Forschungsfortschritte eröffnen neue diagnostische Möglichkeiten [Cardiomyopathy in neonatal age: advances in research open up new diagnostic possibilities]
Creators Name:Frenzel, M. and Klaassen, S. and Klingel, K. and Knirsch, W. and Kretschmar, O. and Kühnisch, J. and Oxenius, A.
Abstract:Advances in genetic research of cardiomyopathies open up new diagnostic possibilities. Cardiomyopathies that were previously classified as idiopathic can increasingly be linked to a disease-related genetic variant. This has far-reaching consequences for treating the patient and uncovering other familial cases, possibly avoiding fatal courses. This case report describes the findings of a newly diagnosed familial cardiomyopathy based on a genetic variant in the troponin T2 gene (TNNT2) and discusses them.
Keywords:DCM, LVNC, TNNT2, Genetics
Source:Monatsschrift Kinderheilkunde
ISSN:0026-9298
Publisher:Springer
Volume:170
Page Range:912–916
Date:October 2022
Official Publication:https://doi.org/10.1007/s00112-020-01000-z

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