ABSTRACT
Marfan´s syndrome is a multisystemic, autosomal dominant congenital abnormality of variable penetrance that affects the integrity of connective tissue. In the cardiovascular system, the dysfunction of the physiology of the aortic root and the myocardial fibrosis originates non-ischemic cardiomyopathy independent of valve lesions. Few data have been reported on the prevalence of arrhythmias and its impact on heart function. We present a 21-year-old man with Marfan's syndrome and heart failure with frequent supraventricular arrhythmias and aortic root dilation. After ablation in the posteroseptal area of the mitral ring and Tirone David Surgery, there was clinical improvement, the left ventricular ejection fraction increased dramatically from 33% to 46%, the left ventricular end-diastolic volume decreased from 90 ml/m2 to 77 ml/m2 and the NT-proBNP decrease from 1100 pg/mL at 180 pg/mL.
El síndrome de Marfan es una anomalía congénita multisistémica, autosómica dominante y de penetrancia variable que afecta a la integridad del tejido conectivo. En el sistema cardiovascular, también se ha descrito la disfunción de la fisiología de la raíz aórtica y la fibrosis miocárdica que origina una miocardiopatía no isquémica independiente de las lesiones valvulares. Se han comunicado pocos datos sobre la prevalencia de arritmias y su repercusión en la función cardiaca. Presentamos el caso de un varón de 21 años con síndrome de Marfan e insuficiencia cardiaca con frecuentes arritmias supraventriculares y dilatación de la raíz aórtica. Después de la ablación en la zona posteroseptal del anillo mitral y la cirugía de Tirone David, hubo mejoría clínica, la fracción de eyección ventricular izquierda aumentó espectacularmente del 33 al 46%, el volumen telediastólico ventricular izquierdo disminuyó de 90 a 77 mL/m* y el NT-proBNP disminuyó de 1100 a 180 pg/mL.
ABSTRACT
Amyloidosis is a multisystem disease caused by infiltration of misfolded proteins; cardiac involvement determines its prognosis. There are several types of precursor proteins capable of causing the disease; however, only two affect the heart, clonal immunoglobulin light chains (AL) and tetrameric transthyretin (TTR) protein. It is an underdiagnosed disease and, in late stages, it has a poor prognosis. We present the case of an older adult patient with progressive cardiac and extracardiac manifestations, as well as laboratory and echocardiographic criteria that brought us closer to the diagnosis of cardiac amyloidosis and also allowed us to assess the prognosis. The patient had a torpid evolution with a fatal outcome. The pathological anatomy studies allowed us to confirm our diagnostic presumption.
