Hypertrophic cardiomyopathy with mid-ventricular phenotype and filamin C mutation, an uncommon case report

Orozco Burbano J.D.; Palacios C.H.; Saldarriaga Giraldo C.I.; Durango Gutiérrez L.F.; Rendón Isaza J.C. · Archivos Peruanos de Cardiologia y Cirugia Cardiovascular (2024) · DOI: 10.47487/apcyccv.v5i3.379

Resumen

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.

Instituciones: Universidad Nacional Federico Villarreal