ABC | Volume 114, Nº2, February 2020

Review Article Romano et al. Myocardial alterations in familial lipodystrophy Arq Bras Cardiol. 2020; 114(2):305-312 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]. 2 Scatteia et al. 26 described the case of a 30-year-old man with generalized lipodystrophy, diagnosed from birth and with ejection systolic murmur from childhood. Echocardiographic examinations showed asymmetric hypertrophic cardiomyopathy, predominantly in the interventricular septum, mitral regurgitation, but without obstruction of the left ventricular outflow. At the age of 30, the cardiac geometric changes became more evident and ventricular hypertrophy progressed, with an ejection fraction of 71%. With the support of magnetic resonance imaging, it was possible to exclude the presence of myocardial edema, as well as fatty infiltration. This examination revealed a focal area of gadolinium ​late enhancement, suggesting local myocardial fibrosis (Figure 3). The presence of signs of fibrosis scattered in hypertrophic muscle usually suggests that hypertrophy is primary and not secondary to hemodynamic situations, such as systemic arterial hypertension. 26 Therefore, as most data in the literature involving lipodystrophy and cardiac geometric and functional changes are based on case reports and case series, the mechanisms involved in this association have yet to be elucidated. The hypothesis of myocardial lipotoxicity is supported by the finding of high triglyceride levels in the hypertrophied cardiomyocytes of some patients, besides the presence of myocardial fat. A probable pathophysiological explanation for lipotoxicity would be a repetitive mechano-sensitive stimulation of elements present in adipogenesis, similarly to patients with preserved residual adipose tissue. In addition, it is also believed that insulin resistance, present in practically all of these individuals, causes an imbalance in the use of substrates by the myocardium, leading to a higher absorption of fatty acids, which may lead to the observed alterations. 2 Published in 2017, the study by Joubert et. al., 27 in an experimental animal model (rodent) of lipodystrophy, 309