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Case Reports
A case of premature and recurrent myocardial infarction associated with ABCA.1 gene mutation.
- K Subramaniam, L A Babu, and N Shah.
- Department of Endocrinology, Silverline Hospital, Kochi, Kerala, India.
- J Postgrad Med. 2021 Jan 1; 67 (1): 29-32.
AbstractCoronary 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.
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