Ana C. Chiliquinga-Carvajal, Medicina Interna, Universidad Internacional del Ecuador, Quito, Ecuador
Joffre A. Arequipa-Herrera, Servicio de Cardiología, Hospital Metropolitano. Quito, Ecuador
Giovanni A. Escorza-Vélez, Servicio de Cardiología. Hospital Metropolitano, Quito, Ecuador
We present the case of a 64-year-old female patient, with no previous history, with clinical and imaging findings of heart failure due to dilated cardiomyopathy, in whom the genetic study identified the c.955C>G variant of the DSP gene, which encodes the production of desmoplakin. The patient received drug treatment and implantable cardioverter-defibrillator, with clinical and functional improvement up to 2 years of follow up.
Keywords: Heart failure. Dilated cardiomyopathy. Desmoplakins.