Cardiac Alterations in Patients with Familial Lipodystrophy

Abstract

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.

Figure 1

Characteristics of patients with familial partial lipodystrophy. Panel A shows fat accumulation on the face and neck and panel B, fat accumulation in the perineal and intra-abdominal regions.

Figure 2

High resolution magnetic resonance images. (Upper) Four-chamber cardiac magnetic resonance images showing pericardial fat in the patient and in the control. (Middle) The control has fat in the chest wall, while the patient does not, demonstrating a general lack of adipose tissue in the patient. (Lower) The liver appears bright because of hepatic steatosis in the patient with lipodystrophy. The general lack of subcutaneous and visceral adipose tissue in the patient with lipodystrophy can be observed. [Adapted from Nelson et. al. Cardiac Steatosis and Left Ventricular Hypertrophy in Patients With Generalized Lipodystrophy as Determined by Magnetic Resonance Spectroscopy and Imaging].

Figure 3

A and B are pre-contrast images. C and D are late post-enhancement images. (A) and (B), both showing a hypodense area (arrow) in the anterior hypertrophic region/anteroseptal region excluding, respectively, the presence of fatty infiltration or edema. (C) and (D) showing late gadolinium enhancement area (arrow) involving the anterior/anteroseptal hypertrophic region and compatible with myocardial fibrosis / necrosis [Adapted from Scatteia et al. Asymmetric hypertrophic cardiomyopathy in generalized lipodystrophy].