Article
Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy.
Circulation - 9 Jun 2020
Smith Eric D, Lakdawala Neal K, Papoutsidakis Nikolaos, Aubert Gregory, Mazzanti Andrea, McCanta Anthony C, Agarwal Prachi P, Arscott Patricia, Dellefave-Castillo Lisa M, Vorovich Esther E, Nutakki Kavitha, Wilsbacher Lisa D, Priori Silvia G, Jacoby Daniel L, McNally Elizabeth M, Helms Adam S
Abstract excerpt
BACKGROUND: Mutations in desmoplakin (DSP), the primary force transducer between cardiac desmosomes and intermediate filaments, cause an arrhythmogenic form of cardiomyopathy that has been variably associated with arrhythmogenic right ventricular cardiomyopathy. Clinical correlates of DSP cardiomyopathy have been limited to small case series. METHODS: Clinical and genetic data were collected on 107 patients with...
Topics
- Adult
- Arrhythmogenic Right Ventricular Dysplasia
- Cardiomyopathies
- Cardiomyopathy, Dilated
- Desmoplakins
- Female
- Fibrosis
- Humans
- Inflammation