Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3

Esther Aurensanz Clemente; Ariadna Ayerza Casas; Cecilia García Lasheras; Feliciano Ramos Fuentes; Ines Bueno Martínez; Juana Pelegrín Díaz; Pablo Ruiz Frontera; Lorenzo Montserrat Iglesias

doi:10.1002/ccr3.832

Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3

Clin Case Rep. 2017 Jan 27;5(3):232-237. doi: 10.1002/ccr3.832. eCollection 2017 Mar.

Authors

Esther Aurensanz Clemente¹, Ariadna Ayerza Casas¹, Cecilia García Lasheras¹, Feliciano Ramos Fuentes¹, Ines Bueno Martínez¹, Juana Pelegrín Díaz², Pablo Ruiz Frontera³, Lorenzo Montserrat Iglesias⁴

Affiliations

¹ Department of Pediatrics HCU Lozano Blesa Zaragoza Spain.
² Department of Cardiology HCU Lozano Blesa Zaragoza Spain.
³ Intensive Care Unit HU Miguel Servet Zaragoza Spain.
⁴ Scientific Department Health in Code A Coruña Spain.

Abstract

We think that the main interests of this study are the report of a new mutation in gene MYBPC3 as a cause of Hypertrophic cardiomyopathy (HMC), and the verification of the fact that not always is the number of mutations related to the severity of the disease.

Keywords: Genetics; MYH7; hypertrophic cardiomyopathy; myosin‐binding protein C.

Publication types

Case Reports