University College London Institute for Cardiovascular Science and Barts Heart Centre, St. Bartholomew's Hospital, London, UK.
Cardiology, Department of Experimental, Diagnostic and Specialty Medicine, Alma Mater Studiorum University of Bologna, Bologna, Italy.
J Inherit Metab Dis. 2018 Jan;41(1):109-115. doi: 10.1007/s10545-017-0094-7. Epub 2017 Oct 4.
Vascular complications in homocystinuria have been known for many years, but there have been no reports to date on involvement of the ascending aorta.
We 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).
The 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.
A subset of patients with homocystinuria have isolated dilation of the aortic root similar to that observed in Marfan syndrome.
同型胱氨酸尿症的血管并发症早已为人所知，但迄今为止尚无关于升主动脉受累的报告。
我们对一家代谢中心确诊的同型胱氨酸尿症患者进行了横断面研究，并于 2016 年进行了经胸超声心动图评估。主动脉根部扩张定义为 Z 评分≥2.0SD，并分为轻度（Z 评分 2.0-3.0）、中度（Z 评分 3.01-4.0）和重度（Z 评分>4.0）。
研究人群包括 34 名患者，中位年龄 44.3 岁（IQR 33.3-52.2），50%为男性，69%在<18 岁时确诊，29%对吡哆醇有反应。8 例（24%）有高血压病史。7 例（21%）患者发现主动脉根部扩张，2 例（6%）为轻度，4 例（12%）为中度，1 例（3%）为重度。无升主动脉扩张。两名患者因中度主动脉根部扩张而出现主动脉瓣中度反流。一名患者因两个瓣叶脱垂和轻度主动脉根部扩张而出现严重二尖瓣反流。将主动脉根部扩张的患者与无扩张的患者进行比较，临床、实验室或超声心动图检查均无显著差异，唯一的例外是主动脉根部扩张组的升主动脉直径较大，但仍在正常范围内。
一部分同型胱氨酸尿症患者存在孤立性主动脉根部扩张，类似于马凡综合征。
