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

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 c...

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Main Authors: K Subramaniam, L A Babu, N Shah
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2021-01-01
Series:Journal of Postgraduate Medicine
Subjects:
coronary artery disease
low hdl
tangier disease
Online Access:http://www.jpgmonline.com/article.asp?issn=0022-3859;year=2021;volume=67;issue=1;spage=29;epage=32;aulast=Subramaniam
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spelling doaj-25cd2f4b6a074dbeae0cb0d7d402e90d2021-02-19T09:40:59ZengWolters Kluwer Medknow PublicationsJournal of Postgraduate Medicine0022-38590972-28232021-01-01671293210.4103/jpgm.JPGM_70_20A case of premature and recurrent myocardial infarction associated with ABCA.1 gene mutationK SubramaniamL A BabuN ShahCoronary 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.http://www.jpgmonline.com/article.asp?issn=0022-3859;year=2021;volume=67;issue=1;spage=29;epage=32;aulast=Subramaniamcoronary artery diseaselow hdltangier disease
collection DOAJ
language English
format Article
sources DOAJ
author K Subramaniam
L A Babu
N Shah
spellingShingle K Subramaniam
L A Babu
N Shah
A case of premature and recurrent myocardial infarction associated with ABCA.1 gene mutation
Journal of Postgraduate Medicine
coronary artery disease
low hdl
tangier disease
author_facet K Subramaniam
L A Babu
N Shah
author_sort K Subramaniam
title A case of premature and recurrent myocardial infarction associated with ABCA.1 gene mutation
title_short A case of premature and recurrent myocardial infarction associated with ABCA.1 gene mutation
title_full A case of premature and recurrent myocardial infarction associated with ABCA.1 gene mutation
title_fullStr A case of premature and recurrent myocardial infarction associated with ABCA.1 gene mutation
title_full_unstemmed A case of premature and recurrent myocardial infarction associated with ABCA.1 gene mutation
title_sort case of premature and recurrent myocardial infarction associated with abca.1 gene mutation
publisher Wolters Kluwer Medknow Publications
series Journal of Postgraduate Medicine
issn 0022-3859
0972-2823
publishDate 2021-01-01
description 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.
topic coronary artery disease
low hdl
tangier disease
url http://www.jpgmonline.com/article.asp?issn=0022-3859;year=2021;volume=67;issue=1;spage=29;epage=32;aulast=Subramaniam
work_keys_str_mv AT ksubramaniam acaseofprematureandrecurrentmyocardialinfarctionassociatedwithabca1genemutation
AT lababu acaseofprematureandrecurrentmyocardialinfarctionassociatedwithabca1genemutation
AT nshah acaseofprematureandrecurrentmyocardialinfarctionassociatedwithabca1genemutation
AT ksubramaniam caseofprematureandrecurrentmyocardialinfarctionassociatedwithabca1genemutation
AT lababu caseofprematureandrecurrentmyocardialinfarctionassociatedwithabca1genemutation
AT nshah caseofprematureandrecurrentmyocardialinfarctionassociatedwithabca1genemutation
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