Berardinelli-Seip Congenital Lipodystrophy Discovered Following a STEMI Event.

Area of Science:

• Cardiology
• Genetics
• Endocrinology

Background:

• Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive syndrome.
• Characterized by congenital absence of adipose tissue and ectopic lipid deposition.
• Associated with pathogenic variants in BSCL2 and AGPAT2 genes.

Purpose of the Study:

• To investigate the cardiac manifestations in a patient with suspected Berardinelli-Seip congenital lipodystrophy.
• To highlight the diagnostic challenges and genetic confirmation of BSCL.
• To underscore the importance of cardiac imaging in BSCL diagnosis.

Main Methods:

• Case report of a 60-year-old man with familial lipodystrophy.
• Coronary angiography, transthoracic echocardiography, and cardiac magnetic resonance imaging.
• Genetic testing for BSCL2 and AGPAT2 pathogenic variants.

Main Results:

• Patient presented with acute coronary event, ventricular dysfunction, and myocardial fibrosis.
• Cardiac MRI revealed intramyocardial diffuse fibrosis without infarction.
• Genetic testing confirmed Berardinelli-Seip congenital lipodystrophy (BSCL).

Conclusions:

• Berardinelli-Seip congenital lipodystrophy (BSCL) can present with significant cardiac involvement, including fibrosis.
• Early diagnosis through genetic testing is crucial for managing BSCL.
• Lipid storage in non-adipose tissues like the heart is a hallmark of BSCL.