Kalil Marco Antônio Baptista, Donis Karina Carvalho, Poswar Fabiano de Oliveira, Dos Santos Bruna Bento, Santos Ângela Barreto Santiago, Schwartz Ida Vanessa Doederlein
Universidade Federal de Ciências da Saúde de Porto Alegre, RS, Brazil.
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, RS, Brazil.
Mol Genet Metab Rep. 2020 Dec 10;25:100693. doi: 10.1016/j.ymgmr.2020.100693. eCollection 2020 Dec.
describe cardiovascular findings from echocardiograms and electrocardiograms in patients with Classic Homocystinuria.
this retrospective exploratory study evaluated fourteen subjects with Classic Homocystinuria (median age = 27.3 years; male = 8, B6-non-responsive = 9 patients), recruited by convenience sampling from patients seen Hospital de Clínicas de Porto Alegre (Brazil), between January 1997 and July 2020. Data on clinical findings, echocardiogram and electrocardiogram were retrieved from medical records.
Eight patients presented some abnormalities on echocardiogram ( = 6) or electrocardiogram ( = 5). The most frequent finding was mild tricuspid regurgitation ( = 3), followed by mitral valve prolapse, mild mitral regurgitation, enlarged left atrium and aortic valve sclerosis ( = 2 patients each). Aortic root ectasia was found in one patient. Venous thrombosis was reported in six patients: deep vein thrombosis of lower limbs (n = 3), ischaemic stroke ( = 1), cerebral venous sinus thrombosis (n = 1) and pulmonary vein thrombosis (n = 1).
mild valvulopathies seen to be common in patients with Classic Homocystinuria, but more studies regarding echocardiogram and electrocardiogram in this population are needed to draw absolute conclusions.
描述经典型同型胱氨酸尿症患者超声心动图和心电图的心血管检查结果。
这项回顾性探索性研究评估了14例经典型同型胱氨酸尿症患者（中位年龄=27.3岁；男性=8例，对维生素B6无反应者=9例），于1997年1月至2020年7月期间通过便利抽样从巴西阿雷格里港临床医院就诊的患者中招募。从病历中检索临床检查结果、超声心动图和心电图数据。
8例患者在超声心动图（n=6）或心电图（n=5）上出现了一些异常。最常见的发现是轻度三尖瓣反流（n=3），其次是二尖瓣脱垂、轻度二尖瓣反流、左心房增大和主动脉瓣硬化（各n=2例）。1例患者发现主动脉根部扩张。6例患者报告有静脉血栓形成：下肢深静脉血栓形成（n=3）、缺血性中风（n=1）、脑静脉窦血栓形成（n=1）和肺静脉血栓形成（n=1）。
轻度瓣膜病变在经典型同型胱氨酸尿症患者中似乎很常见，但需要对该人群进行更多关于超声心动图和心电图的研究才能得出绝对结论。
