Grimaldi Antonio, Vermi Anna Chiara, Maisano Francesco, Sacco Francesco, Castiglioni Alessandro, Zangrillo Alberto, Alfieri Ottavio
Cardiovascular and Thoracic Department, San Raffaele Scientific Institute and Università Vita-Salute San Raffaele, Milan, Italy.
J Heart Valve Dis. 2011 Sep;20(5):552-6.
Whilst several cases of complete Shone's complex have been reported in children, the incomplete form--characterized by two or three components--has rarely been described in adults. Because of the wide spectrum of severity of each pattern, the correct diagnosis may be challenging. Moreover, as the hemodynamic interdependence between defects is thought to be a major determinant of clinical outcome and long-term follow up, it is crucial to consider the lesions as part of the same Shone's syndrome.
Between May 2005 and December 2009, six male patients (mean age 38 +/- 8 years) were referred to the authors' institute with progressive worsening of heart failure symptoms related to valvular disease. All patients had a clinical history of surgery for coarctation of the aorta (CoA), and all but one had a bicuspid aortic valve. Standard transthoracic and transesophageal echocardiographies were performed in all patients to identify the valvular heart disease responsible for clinical deterioration.
Unexpected findings of dysplastic mitral valvular apparatus compatible with parachute deformity of the mitral valve (PMV) or 'PMV-like' morphology were disclosed in all patients. The association with major anatomic abnormalities (bicuspid aortic valve, subaortic ridge, and previous CoA surgical repair) was highly suggestive of adult incomplete Shone's syndrome.
The findings of the present case series emphasized the need for a greater awareness regarding the rare incomplete Shone's syndrome in adulthood, as it occurs far more frequently than might be expected following a random diagnosis. The findings also highlight the additional value of a carefully performed step-by-step echocardiographic study to support the clinical decision-making in this array of left heart anomalies.
虽然儿童中已报道了数例完全性Shone综合征病例，但以两到三个组成部分为特征的不完全形式在成人中鲜有描述。由于每种模式的严重程度范围广泛，正确诊断可能具有挑战性。此外，由于缺损之间的血流动力学相互依存关系被认为是临床结果和长期随访的主要决定因素，因此将这些病变视为同一Shone综合征的一部分至关重要。
2005年5月至2009年12月期间，六名男性患者（平均年龄38±8岁）因与瓣膜病相关的心力衰竭症状进行性恶化被转诊至作者所在机构。所有患者均有主动脉缩窄（CoA）手术史，除一人外均有二叶式主动脉瓣。对所有患者进行了标准经胸和经食管超声心动图检查，以确定导致临床恶化的瓣膜性心脏病。
所有患者均发现了与二尖瓣降落伞畸形（PMV）或“类PMV”形态相符的发育异常二尖瓣装置。与主要解剖异常（二叶式主动脉瓣、主动脉下嵴和既往CoA手术修复）的关联高度提示成人不完全性Shone综合征。
本病例系列结果强调，需要提高对成年期罕见的不完全性Shone综合征的认识，因为其发生率比随机诊断时预期的要高得多。这些结果还突出了精心进行的逐步超声心动图研究在支持这一系列左心异常临床决策方面的额外价值。
