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Three-vessel spontaneous coronary artery dissection in a patient with hyperhomocysteinemia.

ABSTRACT: Increased homocysteine has been related to the occurrence of dissections in the coronary circulation, aorta, and cervical arteries. Spontaneous coronary artery dissection (SCAD) is a relatively rare phenomenon, and data on the long-term follow-up of patients with SCAD are extremely limited. Herein, we describe a case of a young male patient with 3-vessel SCAD (presence of radiolucent linear defects indicating the presence of dissections in all three major coronary arteries) who was found to have hyperhomocysteinemia and a concurrent methylenetetrahydrofolate reductase prothrombotic mutation. Despite the presence of multi-vessel SCAD, the patient had clinically stable coronary artery disease for a long period. <Learning objective: Three-vessel spontaneous coronary artery dissection (SCAD) is an extremely rare phenomenon. Familiarity with the angiographic characteristics of multi-vessel SCAD as shown here is important for diagnosis. Hyperhomocysteinemia and a concurrent methylenetetrahydrofolate reductase prothrombotic mutation is one of the genetic diseases causally related with premature coronary artery disease and SCAD. Patients with angiographic evidence of SCAD may remain clinically stable for a long time.>.

SUBMITTER: Katsouras CS

PROVIDER: S-EPMC8888715 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature

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Three-vessel spontaneous coronary artery dissection in a patient with hyperhomocysteinemia.

Katsouras Christos S CS Papafaklis Michail I MI Lakkas Lampros L Rammos Aidonis A Michalis Lampros K LK

Journal of cardiology cases 20210921 3

Increased homocysteine has been related to the occurrence of dissections in the coronary circulation, aorta, and cervical arteries. Spontaneous coronary artery dissection (SCAD) is a relatively rare phenomenon, and data on the long-term follow-up of patients with SCAD are extremely limited. Herein, we describe a case of a young male patient with 3-vessel SCAD (presence of radiolucent linear defects indicating the presence of dissections in all three major coronary arteries) who was found to have ...[more]

PMID: 35261707

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Project description:ImportanceSpontaneous coronary artery dissection (SCAD) is an increasingly recognized nonatherosclerotic cause of acute myocardial infarction enriched among individuals with early-onset myocardial infarction but is of unclear etiology.ObjectiveTo assess which genes contribute to the development of SCAD.Design, setting, and participantsTo prioritize genes influencing risk for SCAD, whole-exome sequencing was performed among individuals with SCAD in the discovery and replication cohorts from a tertiary care hospital outpatient specialty clinic, and gene set enrichment analyses were also performed for disruptive coding variants. All patients were sequentially enrolled beginning July 2013. Aggregate prevalence of rare disruptive variants for prioritized gene sets was compared between individuals with SCAD with population-based controls comprising 46 468 UK Biobank participants with whole-exome sequencing. Complementary mice models were used for in vivo validation. Analysis took place between June 2020 and January 2021.Main outcomes and measuresThe frequency and identity of rare genetic variants in individuals with SCAD.ResultsOf 130 patients, 109 (83.8%) were female (26 of 32 [81.2%] in the discovery cohort and 83 of 98 [84.7%] in the replication cohort) with mean (SD) age at first SCAD event of 48.41 (8.76) years in the discovery cohort and 47.74 (10.09) years in the replication cohort. Across all patients with SCAD, rare disruptive variants were found within 10 collagen genes (COL3A1, COL5A1, COL4A1, COL6A1, COL5A2, COL12A1, COL4A5, COL1A1, COL1A2, and COL27A1) were 17-fold (P = 1.5 × 10-9) enriched among individuals with SCAD compared with a background of 2506 constrained genes expressed in coronary artery. Furthermore, compared with individuals from the UK Biobank, individuals with SCAD were 1.75-fold (P = .04) more likely to carry disruptive rare variants within fibrillar collagen genes. Complementary mice models haploinsufficient for Col3a1 or Col5a1, the 2 most common collagen gene variants identified in SCAD cases, demonstrated increased risk of arterial dissection and increased size of arterial diameters especially in female mice, with resulting changes in collagen fibril organization and diameter.Conclusions and relevanceUnbiased gene discovery in patients with SCAD with independent human and murine validation highlights the role of the extracellular matrix dysfunction in SCAD.

Project description:ImportanceSpontaneous coronary artery dissection (SCAD) is a notable cause of acute coronary syndrome in women of childbearing age.ObjectiveTo test the hypothesis that pregnancy after SCAD is associated with recurrent SCAD.Design, setting, and participantsThree study designs were implemented: a case series of women with pregnancy after SCAD; a nested case-control study comparing patients with recurrent SCAD to matched controls without recurrent SCAD; and a cohort study. Women with SCAD who were of childbearing potential and enrolled into the Mayo Clinic SCAD Registry from August 30, 2011, to April 4, 2019, were included in the study. Patients with coronary dissections associated with iatrogenesis, trauma, or atherosclerosis were not enrolled.ExposuresPregnancy after SCAD.Main outcomes and measuresThe primary outcome was SCAD recurrence, defined as an acute coronary syndrome or cardiac arrest due to new SCAD. Other demographic measures collected included age, year of SCAD occurrence, and comorbidities.ResultsThe cohort included 636 women of childbearing potential. Twenty-three of those women had a total of 32 pregnancies after SCAD. The median (interquartile range) age of women with pregnancy after SCAD was 38 years (34-40 years), and 20 (87%) were White. In the nested case-control study, 92 cases of recurrent SCAD were matched to 158 controls. There was no significant difference in exposure to subsequent pregnancies in the women with recurrent SCAD as compared with matched controls (2 of 92 [2%] vs 13 of 158 [8%]; P = .06). In the overall cohort of 636 patients, recurrent SCAD was present in 122 patients with a Kaplan-Meier 5-year SCAD recurrence estimate of 14.8%. The Cox analysis showed no significant association between subsequent pregnancy and SCAD recurrence with a nonsignificant hazard ratio of 0.38 (95% CI, 0.09-1.6) when controlling for age at first SCAD, year of first SCAD, and fibromuscular dysplasia.Conclusions and relevanceThis study found that most women tolerated pregnancy and lactation after SCAD without evidence for increased risk of SCAD recurrence when compared with women with a history of SCAD who did not experience pregnancy. Although this study is reassuring and indicates complex contributors to SCAD recurrence, the results need to be interpreted prudently because of study selection bias and the small total number of women who became pregnant after SCAD. The notable hemodynamic changes that occur with pregnancy and severe presentation of pregnancy-associated SCAD are reasons for concern when considering pregnancy after SCAD.

Dataset Information

Three-vessel spontaneous coronary artery dissection in a patient with hyperhomocysteinemia.

Publications

Three-vessel spontaneous coronary artery dissection in a patient with hyperhomocysteinemia.

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