Objective

describe cardiovascular findings from echocardiograms and electrocardiograms in patients with Classic Homocystinuria

Methods

this retrospective exploratory study evaluated fourteen subjects with Classic Homocystinuria (median age = 27.3 years; male n = 8, B6-non-responsive n = 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.

Results

Eight patients presented some abnormalities on echocardiogram (n = 6) or electrocardiogram (n = 5). The most frequent finding was mild tricuspid regurgitation (n = 3), followed by mitral valve prolapse, mild mitral regurgitation, enlarged left atrium and aortic valve sclerosis (n = 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 (n = 1), cerebral venous sinus thrombosis (n = 1) and pulmonary vein thrombosis (n = 1).

Conclusion

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.

中文翻译：

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经典高胱氨酸尿症的心血管表现

客观的

描述经典同型半胱氨酸尿症患者超声心动图和心电图的心血管发现

方法

这项回顾性探索性研究评估了 14 名患有经典同型半胱氨酸尿症的受试者（中位年龄 = 27.3 岁；男性n  = 8，B6 无反应n  = 9 名患者），通过便利抽样从阿雷格里港医院（巴西）的患者中招募，在 1997 年 1 月至 2020 年 7 月之间。从医疗记录中检索临床发现、超声心动图和心电图的数据。

结果

8 名患者在超声心动图（ 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关闭不全（n  = 3），其次是二尖瓣脱垂、轻度二尖瓣关闭不全、左心房扩大和主动脉瓣硬化（每组n  = 2 名患者）。一名患者发现主动脉根部扩张。6 名患者报告了静脉血栓形成：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）。

结论

轻度瓣膜病在经典同型半胱氨酸尿症患者中很常见，但需要更多关于该人群超声心动图和心电图的研究才能得出绝对结论。