Division of Cardiac Surgery, IRCCS, S. Orsola Hospital, University of Bologna, Bologna, Italy.
J Card Surg. 2022 Sep;37(9):2897-2899. doi: 10.1111/jocs.16684. Epub 2022 Jun 15.
We present the case of a 69 years old man affected by Aarskog-Scott syndrome. He came to our attention for an aneurysm of the aortic root, with almost moderate aortic regurgitation; moderate mitral regurgitation was discovered during preoperative assessment. We performed a modified Bentall's procedure and mitral valve repair. A patent foramen ovale was closed. Aarskog-Scott syndrome is a complex developmental disorder, characterized by X-linked recessive hereditariness short stature, craniofacial abnormalities, hyperextension of the proximal interphalangeal joints, and genital malformations. Diagnosis is still a challenge, in light of various clinical pictures and features in common with other syndromes (i.e., Noonan, SHORT, and Robinow syndromes). It has been longly debated if cardiac surveillance is needed among the affected patients; it should be probably undertaken, in view of the higher incidence of congenital heart disease. Moreover, the presence of extremely flexible joints suggests the coexistence of a connective tissue disorder.
我们报告了一例 69 岁的 Aarskog-Scott 综合征患者。他因主动脉根部的动脉瘤，几乎中度主动脉瓣反流，在术前评估中发现中度二尖瓣反流而引起我们的注意。我们进行了改良 Bentall 手术和二尖瓣修复。卵圆孔未闭也被闭合了。Aarskog-Scott 综合征是一种复杂的发育障碍，其特征为 X 连锁隐性遗传身材矮小、颅面异常、近端指间关节过度伸展和生殖器畸形。鉴于其他综合征（如 Noonan、SHORT 和 Robinow 综合征）的各种临床表现和特征，诊断仍然是一个挑战。长期以来，人们一直在争论是否需要对受影响的患者进行心脏监测；鉴于先天性心脏病的发病率较高，可能需要进行心脏监测。此外，极灵活的关节的存在提示存在结缔组织疾病。
