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 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]. 26 was designed to elucidate the pathophysiological basis of myocardial aggression in this disease. Genetically modified mice with no gene for seipin, when compared to controls, showed left ventricular hypertrophy associated with both diastolic and systolic ventricular dysfunction. However, in contrast to what was suggested in other studies, they did not have cardiac triglyceride deposits, contradicting the hypothesis of myocardial lipotoxicity. However, myocardial changes induced in this model correlated with altered glucose metabolism. Based on the findings of this study, it cannot be confirmed that cardiac lipotoxicity is the pathophysiological mechanism involved with hypertrophy and ventricular dysfunction in this disease. But it is quite plausible that the metabolic alteration of glycemic control is indirectly related to transcription factors responsible for the regulation of pro‑hypertrophic gene activation. 27 Conclusion Familial lipodystrophy is a rare condition where individuals show, besides metabolic and skeletal muscle changes, adipose tissue alterations, a type of cardiomyopathy. Cardiac changes commonly described in the literature, in case series, show a hypertrophic cardiomyopathy phenotype. The evolution to left ventricular systolic dysfunction can happen in a percentage of cases. There is not enough information to conclude on the frequency of cardiac functional impairment, such as the diastolic dysfunction type, or even incipient systolic changes. Still, despite the frequent associationof congenital lipodystrophy and ventricular hypertrophy, the pathophysiological mechanisms remain unknown. Hypotheses that the altered glucose metabolism caused by the disease is responsible for activation of pro‑hypertrophy genes could explain such association. Author contributions Conception and design of the research: Romano MMD; Acquisition of data: Chacon PAI, Ramalho FNZ; Analysis and interpretation of the data: Romano MMD, Chacon PAI; Writing of the manuscript: Romano MMD, Chacon PAI, Ramalho FNZ; Critical revision of the manuscript for intellectual content: Romano MMD, Foss MC, Schmidt A. Potential Conflict of Interest No potential conflict of interest relevant to this article was reported. Sources of Funding This study was funded by FAPESP. 310