RESUMO
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.
RESUMO
A cardiomiopatia hipertrófica obstrutiva médio-ventricular é uma variante rara (1%) da cardiomiopatia hipertrófica obstrutiva. Neste relato de caso, apresentamos uma paciente encaminhada para realização de cateterismo cardíaco eletivo por angina e dispneia aos moderados esforços, sem obstrução coronariana significativa e com ventriculografia esquerda, demostrando cardiomiopatia hipertrófica obstrutiva médio-ventricular com um gradiente pressórico intraventricular de 130 mmHg...
Mid-ventricular hypertrophic obstructive cardiomyopathy is a rare variant form (1%) of hypertrophic obstructive cardiomyopathy. In this case, we report a patient referred for elective cardiac catheterization due to angina and dyspnea on moderate exertion, with no significant coronary obstruction, and left ventriculography indicating the presence of mid-ventricular hypertrophic obstructive cardiomyopathy with an intraventricular pressure gradient of 130 mmHg...