Multiple Thromboembolic Events in Young Patient with Homozygous T-786C Mutation in the Endothelial Nitric Oxide Synthase Gene (ENOS).
cerebrovascular insult
cigarette smoking
eNOS 786 T>C mutation
myocardial infarction
thrombophilia
Journal
Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)
ISSN: 1857-8985
Titre abrégé: Pril (Makedon Akad Nauk Umet Odd Med Nauki)
Pays: North Macedonia
ID NLM: 101677081
Informations de publication
Date de publication:
01 Jun 2024
01 Jun 2024
Historique:
medline:
15
7
2024
pubmed:
15
7
2024
entrez:
15
7
2024
Statut:
epublish
Résumé
Thromboembolic events are a common cause of morbidity and mortality with significant socioeconomic impact especially when young patients are affected. They are a rare medical event in young people and their clinical presentation can be mild or asymptomatic. The manifestation of symptoms and thrombotic events depends on both: the genetic mutations and the external risk factors that will induce the process. We present a case of a 34-year old young female, with three consecutive cerebrovascular insults in a period of ten years, and an acute myocardial infarction. There is a combination of gene mutations and polymorphism, with a predisposition to thromboembolic events. We emphasized the role of e-NOS (Endothelial nitric oxide synthase 786 T>C mutation) and the connection with smoking. The dual effect of the prolonged smoking and dysfunctional nitric oxide synthase in our young patient led to several thrombotic events. We discussed the various diagnostic tests and possible therapeutic and prophylactic strategies.
Identifiants
pubmed: 39008646
pii: prilozi-2024-0012
doi: 10.2478/prilozi-2024-0012
doi:
Substances chimiques
Nitric Oxide Synthase Type III
EC 1.14.13.39
NOS3 protein, human
EC 1.14.13.39
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
25-30Informations de copyright
© 2024 Gazmend Amzai et al., published by Sciendo.
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