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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Autores principales: Subramaniam, K, Babu, LA, Shah, N
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8098876/
https://www.ncbi.nlm.nih.gov/pubmed/33380594
http://dx.doi.org/10.4103/jpgm.JPGM_70_20
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author Subramaniam, K
Babu, LA
Shah, N
author_facet Subramaniam, K
Babu, LA
Shah, N
author_sort Subramaniam, K
collection PubMed
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.
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spelling pubmed-80988762021-05-07 A case of premature and recurrent myocardial infarction associated with ABCA.1 gene mutation Subramaniam, K Babu, LA Shah, N J Postgrad Med Case Report 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. Wolters Kluwer - Medknow 2021 2020-12-18 /pmc/articles/PMC8098876/ /pubmed/33380594 http://dx.doi.org/10.4103/jpgm.JPGM_70_20 Text en Copyright: © 2021 Journal of Postgraduate Medicine https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Subramaniam, K
Babu, LA
Shah, N
A case of premature and recurrent myocardial infarction associated with ABCA.1 gene mutation
title 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_short 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
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8098876/
https://www.ncbi.nlm.nih.gov/pubmed/33380594
http://dx.doi.org/10.4103/jpgm.JPGM_70_20
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