A case of premature and recurrent myocardial infarction associated with ABCA.1 gene mutation

• Main Authors: K Subramaniam, L A Babu, N Shah
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2021-01-01
• Series: Journal of Postgraduate Medicine
• Subjects: coronary artery disease; low hdl; tangier disease
• Online Access: http://www.jpgmonline.com/article.asp?issn=0022-3859;year=2021;volume=67;issue=1;spage=29;epage=32;aulast=Subramaniam
• ISSN: 0022-3859; 0972-2823

Coronary heart disease (CHD) is the most important cause of cardiovascular death and when premature, it affects the most productive population of the community. Premature CHD usually has a specific etiology, which on diagnosis, might help in the secondary prevention in that individual. We report a case of young adult with recurrent myocardial infarction, who on evaluation had mildly reduced HDL and Protein C levels with elevated serum homocysteine. Clinical exome identified a possibly pathogenic variant of ABCA1 gene, associated with Tangier disease.