Cardiomiopatía hipertrófica variante medio apical con mutación de la filamina C, una variante poco comun. Reporte de caso

Juan D. Orozco Burbano; Carlos H. Palacios; Clara I. Saldarriaga Giraldo; Luisa F. Durango Gutiérrez; Juan C. Rendón Isaza

doi:10.47487/apcyccv.v5i3.379

Authors

Juan D. Orozco Burbano Departamento de Cardiología Clínica, Universidad Pontificia Bolivariana, Medellín, Colombia; Clínica CardioVID, Medellín, Colombia. https://orcid.org/0000-0001-5449-3830
Carlos H. Palacios Departamento de Cardiología Clí- nica, Universidad Nacional Federico Villarreal, Lima, Perú. https://orcid.org/0000-0001-8092-2854
Clara I. Saldarriaga Giraldo Clínica CardioVID, Medellín, Colombia; Departamento de cardiología e Insuficiencia cardiaca, Universidad Pontificia Bolivariana, Medellín, Colombia; Universidad de Antioquia. Medellín, Colombia. https://orcid.org/0000-0002-5945-1127
Luisa F. Durango Gutiérrez Clínica CardioVID, Medellín, Colombia; Departamento de Ecocardiografía, Universidad Pontificia Bolivariana, Medellín, Colombia. https://orcid.org/0000-0001-9036-8121
Juan C. Rendón Isaza Clínica CardioVID, Medellín, Colombia; Departamento de Cirugía Cardio- vascular, Universidad Pontificia Bolivariana, Medellín, Colombia. https://orcid.org/0000-0002-5737-4383

DOI:

https://doi.org/10.47487/apcyccv.v5i3.379

Keywords:

Cardiomyopathy Hypertrophic, Ventricular Outflow Obstruction Left, Heart Failure

Abstract

Hypertrophic cardiomyopathy has 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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