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

K. Subramaniam*, L. A. Babu, N. Shah

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)29-32
Number of pages4
JournalJournal of Postgraduate Medicine
Volume67
Issue number1
DOIs
StatePublished - Jan 1 2021
Externally publishedYes

Keywords

  • Coronary artery disease
  • low HDL
  • Tangier disease

ASJC Scopus subject areas

  • Medicine(all)

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