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

Authors

  • M. Frenzel
  • S. Klaassen
  • K. Klingel
  • W. Knirsch
  • O. Kretschmar
  • J. Kühnisch
  • A. Oxenius

Journal

  • Monatsschrift Kinderheilkunde

Citation

  • Monatsschr Kinderheilkd

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.


DOI

doi:10.1007/s00112-020-01000-z