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. 2016 Oct;34(4):181-186.
doi: 10.2337/cd16-0002.

Cardiac Manifestations of Congenital Generalized Lipodystrophy

Vani P Sanon  1 , Yehuda Handelsman  2 , Son V Pham  1 , Robert Chilton  1
Affiliations

Cardiac Manifestations of Congenital Generalized Lipodystrophy

Vani P Sanon et al. Clin Diabetes. 2016 Oct.

Abstract

IN BRIEF Congenital lipodystrophy is a rare genetic disorder characterized by a near-complete absence of fat cells, hypoleptinemia leading to a voracious appetite, and marked insulin resistance. This article focuses on the known cardiovascular manifestations of patients with congenital lipodystrophy, including cardiomyopathy, cardiac arrhythmias, and accelerated atherosclerosis arising from a markedly deranged metabolic milieu. Future research that targets leptin deficiency (metreleptin) and apoC3 mRNA (antisense oligonucleotide) could open a window for potential pharmacological treatment of this challenging disorder.

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Figures

FIGURE 1.
FIGURE 1.
Subtypes of congenital lipodystrophy. Adapted from Ref. 1.
FIGURE 2.
FIGURE 2.
An adipocyte in an obese individual is contrasted with a dysfunctional adipocyte in congenital lipodystrophy. It is noteworthy that in obesity, the enlarged adipocyte is no longer able to store triglycerides, and in CGL, the abnormal adipocyte is unable to store triglycerides. Both conditions lead to increased circulating FFAs. TRG, triglycerides.
FIGURE 3.
FIGURE 3.
CGL4 (PTRF mutation) has been associated with cardiac arrhythmias. Rajab et al. (16) characterized patients with fatal cardiac arrhythmias and long QT syndrome and reported patients with sudden death in the teenage years. The treatment of these patients is best evaluated by an electrophysiologist because of the complexity related to polymorphic ventricular tachycardia seen in CGL4 patients. CGL2 patients also are at increased risk, and avoidance of exercise might be considered, but this remains unclear. Napolitano and Priori (33) reported on the diagnosis and treatment of patients with catecholaminergic polymorphic ventricular tachycardia, which has been seen in lipodystrophy.
FIGURE 4.
FIGURE 4.
The cardiac manifestations of CGL are wide-ranging. Involvement of the cardiovascular system is very apparent, ranging from sudden death to likely increased atherosclerotic risk.
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