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

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.

Automated summary

Coronary heart disease is a significant cause of cardiovascular death in the community, particularly affecting the most productive population when occurring prematurely. Early onset CHD often has a specific etiology that, when diagnosed, can aid in secondary prevention for the individual.