Berardinelli-Seip Congenital Lipodystrophy Discovered Following a STEMI Event
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Published on: May 28, 2019
Francisca Beires1, Helena Greenfield1, José Brito da Silva2
1Department of Internal Medicine, Hospital Pedro Hispano, Senhora da Hora, Portugal.
Insights
Berardinelli-Seip congenital lipodystrophy (BSCL), a rare genetic disorder, can manifest with cardiac issues like myocardial fibrosis. Genetic testing confirmed BSCL in a patient presenting with an acute coronary event and cardiac abnormalities.
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.
Abstract:
A 60-year-old man, with a history of familial lipodystrophy, hypertriglyceridaemia, hepatic steatosis and bone cysts, was admitted due an acute coronary event. Coronary angiography showed significant stenosis in the left anterior descending artery, which was treated. Transthoracic echocardiography showed a slightly dilated left ventricle with diffuse and heterogeneous thickening of its walls, slightly decreased left ventricular function and reduced global longitudinal strain. Due to these echocardiographic findings, cardiac magnetic resonance imaging was requested, which identified intramyocardial diffuse fibrosis of the basal septum and points of insertion of the left and right ventricles, without oedema, microvascular obstruction or myocardial infarction. Owing to the constellation of symptoms and distinctive features on cardiac imaging, a diagnosis of Berardinelli-Seip congenital lipodystrophy (BSCL) was suspected, which was confirmed through genetic testing of the pathogenic variants in BSCL2 and AGPAT2. BSCL is a rare autosomal recessive syndrome characterized by the congenital absence of adipose tissue and triglyceride deposition in other tissues, such as muscle, liver and heart.
Learning Points:
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare congenital lipodystrophy, with an incidence of 1-9 per million population, which is usually diagnosed at birth and is associated with pathogenic variants of the BSCL2 and AGPAT2 genes.Due to the absence of functional adipocytes, lipid storage occurs in other tissues, including skeletal muscle and liver.Diagnosis is based on the presence of three major or two major and two minor characteristics.
