[Hypertrophic cardiomyopathy with mid-ventricular phenotype and filamin C mutation, an uncommon case report]. / Cardiomiopatía hipertrófica variante medio apical con mutación de la filamina C, una variante poco común. Reporte de caso.
Arch Peru Cardiol Cir Cardiovasc
; 5(3): 167-170, 2024.
Article
em Es
| MEDLINE
| ID: mdl-39411012
ABSTRACT
Hypertrophic cardiomyopathy has a different presentation spectrum, including left ventricular outflow tract obstruction. The most common phenotype is the asymmetric septal variant, with the mid-apical variant being rare. On the other hand, there are specific mutations associated with hypertrophic cardiomyopathy, with the Filamin C variant being an unusual condition in these patients. Therefore, we present the case of a 23-year-old male patient with a diagnosis of hypertrophic cardiomyopathy in whom a Filamin C variant was documented. Given the inadequate response and persistence of symptoms to medical management, a myectomy procedure was performed with a transapical approach, with subsequent improvement in clinical symptoms and outflow tract obstruction. This case illustrates a rare variant with a surgical approach different from the conventional transaortic approach, with marked improvement in symptoms.
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1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
Es
Revista:
Arch Peru Cardiol Cir Cardiovasc
Ano de publicação:
2024
Tipo de documento:
Article
País de publicação:
Peru