RESUMEN
The case of a 49-year-old man with acute onset of heart failure is presented. The initial work-up showed a dilated cardiomyopathy with severely reduced left ventricular ejection fraction. In the differential diagnostic process, hypertensive, ischaemic, and valvular aetiologies were discarded. Subsequently, a cardiac magnetic resonance revealed global hypokinesis and inferior and anterior subepicardial fibrosis. Once differential diagnoses of subepicardial fibrosis (myocarditis, sarcoidosis, and Chagas disease) were discarded, a genetic panel was performed, resulting in a heterozygous mutation of desmoplakin (DSP) gene c.6697_6698del. A left-dominant DSP arrhythmogenic cardiomyopathy mutation was diagnosed. Structural myocardial abnormalities and ventricular arrhythmias characterize arrhythmogenic cardiomyopathy. Up to 50% of cases are associated with mutations in DSP genes (JUP, DSP, and PKP2). DSP is the fundamental component of the desmosome structure and provides structural support through intercellular adhesion. Therefore, when frequent differential diagnoses are discarded, genetic studies for dilated cardiomyopathy and DSP mutation should be considered.
RESUMEN
Resumen En el escenario clínico es cada vez más frecuente la atención de pacientes adultos mayores, lo cual es un desafío debido a la presencia de mayor comorbilidad y de condiciones o síndromes geriátricos (fragilidad, sarcopenia, caídas) que usualmente los acompañan. La fragilidad es un síndrome común en el paciente anciano, en quien existe una disminución de la reserva fisiológica que genera vulnerabilidad frente a factores estresantes. Su prevalencia aumenta a la par con la expectativa de vida, y tiene un impacto significativo en la salud pública ya que estudios han demostrado que se asocia con mayores tasas de hospitalización, desenlaces adversos quirúrgicos, mortalidad y costos para los sistemas de salud. Se hace revisión actualizada de la relación existente entre la fragilidad y enfermedad cardiovascular. El conocimiento sobre fragilidad sirve como guía para tomar decisiones y como objeto de investigación de un segmento de una población con gran crecimiento.
Abstract The care of elderly patients is becoming increasingly more common in the clinical setting. This presents a challenge due to there being increased comorbidity and the presence of geriatric conditions or syndromes (frailty, sarcopenia, falls) that usually accompany them. Frailty is a common syndrome in the elderly patient, in which there is a decrease in physiological reserve that can lead to vulnerability to stress factors. Its prevalence increases on a par with life expectancy, and has a significant impact on public health since studies have demonstrated that it is associated with higher hospital admission rates, adverse surgical outcomes, mortality, and costs for the health systems. An update review has been made on the existing relationship between frailty and cardiovascular disease. Knowledge about frailty will serve as a guide to make decisions and as an objective in the investigation of an increasingly growing segment of the population.