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Triple-Vessel Coronary Artery Disease Associated with Familial Hyperhomocysteinemia
- Source :
- Research in Cardiovascular Medicine, Vol 9, Iss 4, Pp 107-110 (2020)
- Publication Year :
- 2020
- Publisher :
- Medknow, 2020.
-
Abstract
- Homocysteine is a sulfhydryl containing amino acid implicated in the pathogenesis of cardiovascular disease in multiple epidemiologic studies. However, elevated homocysteine in isolation is not known to lead to severe coronary artery disease requiring emergency intervention. We report a previously asymptomatic 55-year-old gentleman who presented with an acute myocardial infarction with bradycardia and was found to have triple-vessel coronary artery disease on angiography. After stabilization, he underwent a coronary artery bypass grafting in view of the severity of disease. A thorough evaluation revealed the absence of all traditional risk factors except elevated serum homocysteine. The evaluation of family members also revealed elevated homocysteine levels in both his sons and wife. Mutation testing of the methylenetetrahydrofolate reductase (MTHFR) gene showed homozygous Q429A mutation in the patient and heterozygous A222V and Q429A mutation in both his sons. The patient was discharged successfully and is well after 9 months of follow-up. Homocysteine has been implicated in the pathogenesis of cardiovascular disease in synergy with other traditional risk factors. This is a rare presentation of familial hyperhomocysteinemia presenting with severe coronary artery disease and elevated homocysteine levels in all family members. Elevated homocysteine levels in isolation may lead to significant cardiovascular disease and should be checked if no other risk factors are present. It may be useful to screen the patient and family members for underlying MTHFR mutations. In the absence of prospective evidence, there appears to be little harm in providing multivitamins to attempt to reduce homocysteine levels.
- Subjects :
- lcsh:Diseases of the circulatory (Cardiovascular) system
Hyperhomocysteinemia
medicine.medical_specialty
Homocysteine
cardiac
heart
ischemia
Disease
Asymptomatic
Pathogenesis
Coronary artery disease
chemistry.chemical_compound
Internal medicine
medicine
Myocardial infarction
risk
biology
business.industry
homocysteine
General Medicine
medicine.disease
chemistry
lcsh:RC666-701
Methylenetetrahydrofolate reductase
Cardiology
biology.protein
medicine.symptom
business
Subjects
Details
- ISSN :
- 22519572
- Volume :
- 9
- Database :
- OpenAIRE
- Journal :
- Research in Cardiovascular Medicine
- Accession number :
- edsair.doi.dedup.....d801f879988a2e81f0b6e840d5e2d076
- Full Text :
- https://doi.org/10.4103/rcm.rcm_34_20