Universidade de São Paulo Faculdade de Medicina de Ribeirão Preto - Medicina Interna, Ribeirão Preto, SP - Brazil.
Universidade de São Paulo Faculdade de Medicina de Ribeirão Preto - Centro de Cardiologia, Ribeirão Preto, SP - Brazil.
Arq Bras Cardiol. 2020 Feb;114(2):305-312. doi: 10.36660/abc.20190016.
Familial lipodystrophy is a rare genetic condition in which individuals have, besides metabolic changes and body fat deposits, a type of cardiomyopathy that has not been well studied. Many of the patients develop cardiovascular changes, the most commonly reported in the literature being the expression of a type of hypertrophic cardiomyopathy. This article, presented as a bibliographic review, reviews the clinical and cardiovascular imaging aspects in this scenario of cardiomyopathy in a rare metabolic disease, based on the latest scientific evidence published in the area. Despite the frequent association of congenital lipodystrophy and ventricular hypertrophy described in the literature, the pathophysiological mechanisms of this cardiomyopathy have not yet been definitively elucidated, and new information on cardiac morphological aspects is emerging in the aegis of recent and advanced imaging methods, such as cardiac magnetic resonance.
家族性脂肪营养不良是一种罕见的遗传疾病，除了代谢变化和体脂肪沉积外，患者还会发生一种尚未得到充分研究的心肌病。许多患者会出现心血管变化，文献中最常报道的是一种肥厚型心肌病的表现。本文通过对该领域最新科学证据的回顾，对罕见代谢性疾病中心肌病的临床和心血管影像学方面进行了综述。尽管文献中经常描述先天性脂肪营养不良与心室肥厚的关联，但这种心肌病的病理生理机制尚未得到明确阐明，并且在最近和先进的成像方法（如心脏磁共振）的支持下，关于心脏形态学方面的新信息正在不断涌现。
