Resumo

PATINO MONCAYO, Álvaro Daniel  e  NIETO ZARATE, Jaime Andrés. When genetics were hidden. Hypertrophic cardiomyopathy due to MYBPC3 c.1102A>T (p.Lys368*) variant refractory to medical management. Case report. Rev.Urug.Cardiol. [online]. 2024, vol.39, n.1, e701.  Epub 01-Dez-2024. ISSN 0797-0048.  https://doi.org/10.29277/cardio.39.1.2.

Hypertrophic cardiomyopathy is increasingly diagnosed. It is a genetic condition that leads to myocardial hypertrophy, fibrosis, ischemia, and apoptosis with obstruction of the left ventricular outflow tract. It can result in syncope, heart failure, and sudden death. Treatment is pharmacological, and surgery is required in cases of refractoriness. A case of hypertrophic cardiomyopathy associated with a pathogenic genetic variant is presented in a patient unresponsive to optimal medical management. The importance of this article lies in how crucial genetics is for the proper diagnostic approach and the establishment of the origin and prognosis of this disease.

Palavras-chave : CARDIOMYOPATHY HYPERTROPHIC; CONGENITAL DISORDER; DISEASE MANAGEMENT.

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