Charfo Mahamadou B, Ettagmouti Yacine, Mahoungou Mackonia Noel M, Arouss Salim, Drighil Abdel N
Cardiology Department, CHU IBN Rochd, B.P, Casablanca, Morocco.
Faculty of Medicine and Pharmacy, Hassan II University of Casablanca, B.P, Casablanca, Morocco.
Ann Med Surg (Lond). 2023 Mar 13;85(5):1843-1847. doi: 10.1097/MS9.0000000000000254. eCollection 2023 May.
Laubry-Pezzi syndrome is a rare congenital heart disease characterized by the association of ventricular defect septal to aortic cusp prolapse responsible for aortic regurgitation (AR).
We reported three cases of Laubry-Pezzi syndrome diagnosed in our department of cardiology on a cohort of more than 3000 cases of congenital heart disease. A 13-year-old patient presented a Laubry-Pezzi syndrome with severe AR and significant volumetric left ventricle overload and was operated on in time to allow a good evolution of his condition. A 43-year-old patient, followed for congenital cardiac pathology, presented with severe dyspnea. The echocardiogram found global dysfunction of the left ventricle with an ejection fraction of 35%, a perimembranous ventricular septal defect (VSD) almost completely closed by the prolapse of the noncoronary cusp, and severe eccentric aortic insufficiency due to the prolapse of the noncoronary cusp. Aortic valve replacement and VSD closure were indicated. The third patient is a 21-year-old patient with Down syndrome, in whom a grade 2/6 systolic murmur was detected. Transthoracic echocardiography revealed a perimembranous VSD measuring 4 mm without any hemodynamic repercussions and a moderate aortic insufficiency due to the prolapse of the noncoronary cusp. Clinical and echocardiographic monitoring with Osler prevention was indicated as a modality of management.
The pathophysiology is explained by the Venturi effect, the restrictive shunt of the VSD creates an area of low pressure that sucks the adjacent cusp resulting in aortic prolapse and regurgitation. The diagnosis is essentially based on transthoracic echocardiography; it must be conducted before the emergence of AR. The management of this rare syndrome still remains nonconsensual, whether it is through timing or operative techniques.
Management must be early by closing the VSD with or without aortic valve intervention to prevent the onset or worsening of AR.
劳布里 - 佩齐综合征是一种罕见的先天性心脏病，其特征是室间隔缺损与主动脉瓣叶脱垂相关联，导致主动脉反流（AR）。
我们在心脏科超过3000例先天性心脏病病例队列中报告了3例劳布里 - 佩齐综合征。一名13岁患者患有伴有严重主动脉反流和明显左心室容量超负荷的劳布里 - 佩齐综合征，并及时接受了手术，病情得以良好发展。一名43岁患有先天性心脏疾病的患者出现严重呼吸困难。超声心动图显示左心室整体功能障碍，射血分数为35%，膜周部室间隔缺损（VSD）几乎完全被无冠瓣脱垂封闭，且由于无冠瓣脱垂导致严重的偏心性主动脉瓣关闭不全。建议进行主动脉瓣置换和室间隔缺损修补。第三名患者是一名21岁的唐氏综合征患者，检测到2/6级收缩期杂音。经胸超声心动图显示一个4毫米的膜周部室间隔缺损，无任何血流动力学影响，以及由于无冠瓣脱垂导致的中度主动脉瓣关闭不全。作为管理方式，建议进行临床和超声心动图监测以及奥斯勒预防措施。
其病理生理学由文丘里效应解释，室间隔缺损的限制性分流产生一个低压区域，吸引相邻瓣叶，导致主动脉瓣脱垂和反流。诊断主要基于经胸超声心动图；必须在主动脉反流出现之前进行。对于这种罕见综合征的管理，无论是在时机还是手术技术方面，仍然没有达成共识。
必须尽早进行管理，通过关闭室间隔缺损，无论是否进行主动脉瓣干预，以预防主动脉反流的发生或恶化。
