PDF(Pubmed)
Abstract：
Aortic aneurysm, left ventricular noncompaction, and early onset Parkinson syndrome have not been reported in association with MYH11 variants. The patient is a 44-year-old male who developed a progressive ascending aortic aneurysm at age 30, requiring aortic repair at the age of 40. In addition, he developed Parkinson syndrome at the age of 37. He also suffered from myopia, hypothyroidism, arterial hypertension, hyperlipidemia, pre-diabetes, hyperbilirubinemia, obstructive sleep apnea syndrome (OSAS), and muscle cramps. Echocardiography and cardiac MRI showed left ventricular noncompaction. Genetic analysis revealed the novel heterozygous variant c.2225C>T (p.Ala742Val) in MYH11. Family history was positive for arterial hypertension (mother), carcinoma (brother), and diabetes (sister, father). There was consanguinity between the parents. With appropriate treatment, Parkinson syndrome and cardiac anomalies remained stable and there were no complications due to noncompaction or aortic repair. Considering that embryonic vascularisation may be involved in the pathophysiology of noncompaction and that MYH11 is expressed in the myocardium, a causal relationship between the MYH11 variant and noncompaction is conceivable. In conclusion, this is the first case showing an aortic aneurysm associated with noncompaction and Parkinson syndrome in a carrier of the novel, heterozygous variant c.2225C>T in MYH11. Carriers of MYH11 variants should be prospectively and systematically screened for multisystem diseases as soon as the genetic defect is discovered in order not to delay any necessary treatment. First-degree relatives should be screened for the MYH11 variant of a family member to track the trait of inheritance and confirm its pathogenicity.
摘要：
主动脉瘤,左心室不紧密,早发性帕金森综合征尚未与MYH11变异相关的报道.患者是一名44岁的男性，在30岁时发展为进行性升主动脉瘤，在40岁时需要进行主动脉修复。此外,他在37岁时患上了帕金森综合征。他还患有近视，甲状腺功能减退,动脉高血压,高脂血症,糖尿病前期,高胆红素血症,阻塞性睡眠呼吸暂停综合征（OSAS），肌肉痉挛.超声心动图和心脏MRI显示左心室致密化不全。遗传分析揭示了新的杂合变体c.2225C>T（p。Ala742Val）在MYH11。家族史为动脉高血压阳性（母亲），癌（兄弟），和糖尿病(姐姐，父亲）。父母之间有血缘关系。经过适当的治疗,帕金森综合征和心脏异常保持稳定，并且没有由于致密化或主动脉修复引起的并发症。考虑到胚胎血管化可能参与心肌致密化的病理生理学，并且MYH11在心肌中表达，可以想象MYH11变异体与非压实之间的因果关系。总之,这是该新型携带者中第一例显示与心肌致密化不全和帕金森综合征相关的主动脉瘤，MYH11中的杂合变体c.2225C>T。一旦发现遗传缺陷，就应该对MYH11变体的携带者进行前瞻性和系统性的多系统疾病筛查，以免延误任何必要的治疗。一级亲属应筛选家族成员的MYH11变异体，以追踪遗传性状并确认其致病性。
