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., Klaassen, S., Klingel, K., Knirsch, W., Kretschmar, O., 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 |
Repository Staff Only: item control page