Abstract
BackgroundVascular complications in homocystinuria have been known for many years, but there have been no reports to date on involvement of the ascending aorta.MethodsWe conducted a cross-sectional study of patients with homocystinuria, known to a single metabolic centre, and evaluated in 2016 with a transthoracic echocardiogram. Aortic root dilation was defined as Z-score ≥ 2.0 SD, and graded mild (Z-score 2.0–3.0), moderate (Z-score 3.01–4.0) and severe (Z-score > 4.0).ResultsThe study population included 34 patients, median age of 44.3 years (IQR 33.3–52.2), 50% males, 69% diagnosed aged <18 years and 29% pyridoxine-responsive. Eight (24%) had a history of hypertension. Seven patients (21%) were found to have a dilation of the aortic root, mild in two cases (6%), moderate in four (12%) and severe in one (3%). None had dilation of the ascending aorta. Significant aortic regurgitation, secondary to moderate aortic root dilation, was documented in two patients. A single patient had significant mitral regurgitation due to prolapse of both valve leaflets, as well as mild aortic root dilation. Comparing patients with a dilation of the aortic root to those without, there were no significant clinical, laboratory or echocardiographic differences, with the only exception being that the diameter of the ascending aorta was larger in the group with a dilated aortic root, albeit within normal limits.ConclusionsA subset of patients with homocystinuria have isolated dilation of the aortic root similar to that observed in Marfan syndrome.
Highlights
IntroductionThe phenotype is variable and can include: Marfanoid appearance, mental retardation, epilepsy, vascular complications, ectopia lentis and osteoporosis (Mudd et al 2001)
Homocystinuria (HCU, OMIM 236200) is a rare autosomal recessive genetic disease caused by cystathionine β-synthaseCommunicated by: William Ross WilcoxElectronic supplementary material The online version of this article contains supplementary material, which is available to authorized users.J Inherit Metab Dis (2018) 41:109–115(CBS, EC 4.2.1.22) deficiency (Mudd 2011)
The isolated aortic root dilation we observed in our cohort is similar to that seen in Marfan syndrome (MFS, OMIM 154700), a disease caused in most cases by mutations in the FBN1 gene, that encodes fibrillin-1, but to a lesser degree
Summary
The phenotype is variable and can include: Marfanoid appearance, mental retardation, epilepsy, vascular complications, ectopia lentis and osteoporosis (Mudd et al 2001). In an untreated cohort of HCU patients, 50% experienced a thromboembolic event by the age of 30 and thromboembolism was reported as a significant factor in 80% of deaths (Mudd et al 1985). No clinical trials have investigated the issue, but observational studies (Wilcken and Wilcken 1997; Yap et al 2000, 2001) have described a lower incidence of vascular complications in treated patients compared to the expected rates derived from a historical untreated cohort (Mudd et al 1985). Vascular complications in homocystinuria have been known for many years, but there have been no reports to date on involvement of the ascending aorta
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