Open AccessA case of premature and recurrent myocardial infarction associated with ABCA.1 gene mutation
Author(s) -
Kathirvel Subramaniam,
LA Babu,
Neomi Shah
Publication year - 2021
Publication title -
journal of postgraduate medicine/journal of postgraduate medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.405
H-Index - 52
eISSN - 0972-2823
pISSN - 0022-3859
DOI - 10.4103/jpgm.jpgm_70_20
Subject(s) - myocardial infarction , cardiology , mutation , medicine , gene mutation , gene , genetics , biology
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.