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

1 Department of Endocrinology, Silverline Hospital, Kochi, Kerala, India
2 Department of Medicine, Silverline Hospital, Kochi, Kerala, India
3 Neuberg Centre for Genomic Medicine, Ahmedabad, Gujarat, India

Correspondence Address:
K Subramaniam,
Department of Endocrinology, Silverline Hospital, Kochi, Kerala
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jpgm.JPGM_70_20

PMID: 33380594

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.

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Online since 12th February '04
2004 - Journal of Postgraduate Medicine
Official Publication of the Staff Society of the Seth GS Medical College and KEM Hospital, Mumbai, India
Published by Wolters Kluwer - Medknow