| 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 |
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