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

Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3

Esther Aurensanz Clemente  1 , Ariadna Ayerza Casas  1 , Cecilia García Lasheras  1 , Feliciano Ramos Fuentes  1 , Ines Bueno Martínez  1 , Juana Pelegrín Díaz  2 , Pablo Ruiz Frontera  3 , Lorenzo Montserrat Iglesias  4
Affiliations
Case Reports

Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3

Esther Aurensanz Clemente et al. Clin Case Rep. .

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.

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Figures

Figure 1
Figure 1
The family tree. Circle: female. Square: male. Symbols in gray: affected members of the family of disease/sudden death. Symbols in white: family members without heart disease. Symbols enclosing a circle: carrying members of the mutation without heart disease today. Symbols with diagonal line: deceased members. Arrow: index patient.
Figure 2
Figure 2
The echocardiogram showed asymmetric left ventricular hypertrophy, with a maximum thickness of 29.7 mm in the posterior median septum, with no obstruction in the left ventricular outflow tract.
See this image and copyright information in PMC

References

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