ABC Heart Fail Cardiomyop 2021; 1(2): 153-156
Sustained Ventricular Tachycardia as an Isolated Presentation of Transthyretin Amyloidosis Cardiomyopathy – Val50Met
Edileide de Barros Correia
, Larissa Ventura Ribeiro Bruscky
, Kelin Chen
, Priscila Cestari Quagliato
, Yoná Afonso Francisco
, Líria Maria Lima da Silva, Ana Cristina de Souza Murta
Introduction
Amyloidosis is characterized by extracellular deposition of insoluble proteins (amyloid deposition) in multiple organs and progressive organ dysfunction. It is classified by the type of protein that is deposited, including transthyretin amyloidosis (ATTR), which can occur due to a genetic variant and aging. Approximately 120 genetic variants have been recognized to cause ATTR; one of the most common is Val50Met. The phenotypic presentation of ATTR due to the Val50Met mutation is mostly neurological, known as familial amyloidotic polyneuropathy (FAP), but cardiac involvement is being increasingly recognized. Sporadic cases with strictly cardiac manifestation, causing ventricular wall hypertrophy, dysfunction diastolic, and conduction disturbances have already been described in the literature.
In this article, we report a case of ATTR due to the Val50Met mutation, with the phenotypic expression of cardiac involvement, with sustained ventricular tachycardia as an isolated presentation.
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