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Coronary artery dissection in adult-onset homocystinuria.

ABSTRACT: The present report concerns the first case of a spontaneous arterial coronary dissection in adult onset homocystinuria leading to a premature myocardial infarct. The patient had also presented an unexplained lower limb venous thrombosis at the age of 41. A carotid artery thrombosis was found at the aged of 61 during the investigations for facial nerve palsy. The diagnosis of homocystinuria was delayed as it was only performed 20 years after the first thrombotic event. From observation, a pectus carinatum was the only clinical characteristic that could be related to homocystinuria phenotype. Cystathionine ?-synthase (CBS) gene analysis showed compound heterozygous mutations. After 3 months of pyridoxine, the plasma homocysteine level was totally normalised.

SUBMITTER: Granel B

PROVIDER: S-EPMC3029091 | biostudies-literature | 2009

REPOSITORIES: biostudies-literature

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Coronary artery dissection in adult-onset homocystinuria.

Granel Brigitte B Rossi Pascal P Bonello Laurent L Brunet Dominique D Bernard Fanny F Frances Yves Y

BMJ case reports 20090902

The present report concerns the first case of a spontaneous arterial coronary dissection in adult onset homocystinuria leading to a premature myocardial infarct. The patient had also presented an unexplained lower limb venous thrombosis at the age of 41. A carotid artery thrombosis was found at the aged of 61 during the investigations for facial nerve palsy. The diagnosis of homocystinuria was delayed as it was only performed 20 years after the first thrombotic event. From observation, a pectus ...[more]

PMID: 21887159

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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

Coronary artery dissection in adult-onset homocystinuria.

Publications

Coronary artery dissection in adult-onset homocystinuria.

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