Arq. Bras. Cardiol. 2024; 121(6): e20240305

Understanding Cardiac Alterations in Familial Partial Lipodystrophy: Insights from Echocardiography

Silvio Henrique Barberato

DOI: 10.36660/abc.20240305i

This Short Editorial is referred by the Research article "Echocardiographic Alterations of Cardiac Geometry and Function in Patients with Familial Partial Lipodystrophy".

Lipodystrophies are a diverse group of diseases characterized by a loss of fatty tissue in the body. Consequently, lipids are stored in non-fat cells, leading to major metabolic consequences, such as liver steatosis and insulin resistance, and increased risk of cardiovascular diseases due to premature atherosclerosis. Lipodystrophies can be classified as congenital or acquired, and generalized or partial, depending on the extent of fat distribution disturbance. Unlike congenital generalized lipodystrophy (CGL), patients with familial partial lipodystrophy (PL) do not have a widespread lack of fat throughout the body but rather a localized loss of fat in limbs and trunk. PL is a rare genetic disorder often accompanied by mutations in the lamin A/C gene (LMNA), belonging to the complex group of laminopathies that can lead to muscular and cardiac dystrophies, neuropathies, and syndromes of premature aging.^, Due to the rarity of the lipodystrophies and the phenotypic range of cardiac manifestations, only case reports and studies with limited numbers of patients, mostly restricted to individuals with CGL, are available.

Cardiomyopathy associated with familial PL remains underexplored despite its potential to cause early mortality. While premature atherosclerosis and cardiac arrhythmias are common, the direct impact of gene mutations on cardiac structure and function is unclear. Previous reports have described different phenotypes of cardiomyopathies in this group of patients, ranging from isolated left ventricular (LV) hypertrophy and hypertrophic cardiomyopathy to dilated cardiomyopathy.

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