Kardiomyopathie im Neugeborenenalter: Forschungsfortschritte eröffnen neue diagnostische Möglichkeiten [Cardiomyopathy in neonatal age: advances in research open up new diagnostic possibilities]
Autor/innen
- M. Frenzel
- S. Klaassen
- K. Klingel
- W. Knirsch
- O. Kretschmar
- J. Kühnisch
- A. Oxenius
Journal
- Monatsschrift Kinderheilkunde
Quellenangabe
- Monatsschr Kinderheilkd 170: 912–916
Zusammenfassung
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.