Sharma Jayendra, Friedman Deborah, Dave-Sharma Swati, Harbison Madeleine
Department of Pediatrics, Division of Cardiology, New York Presbyterian Hospital-Cornell Medical Center, 525 East 68th Street, New York, NY 10021, USA.
Cardiol Young. 2009 Dec;19(6):568-72. doi: 10.1017/S1047951109990874. Epub 2009 Oct 27.
Aortic dilation and dissection is reported in patients with Turner's syndrome, both with and without cardiovascular risk factors. The bicuspid aortic valve is closely associated with dilated aortic root, although expression of aortic dilation is variable. The determinants for variable expression of aortic dilation in individuals with Turner's syndrome, however, are unknown.
A primary mesenchymal defect is prevalent in individuals with Turner's syndrome, suggested by having abnormalities in bone matrix, and lymphatic and peripheral blood vessels. We hypothesize that an abnormal intrinsic elastic property of aorta is a forerunner of aortic dilation in Turner's syndrome.
Assess utility of aortic distensibility as a measure of aortic elasticity for the stratification of the risk for aortic dilation, and its relationship with age, karyotype, and hormonal therapy.
Prospective cross-sectional study.
We performed cross-sectional M-mode and Doppler echocardiography in 24 individuals with Turner's syndrome. Dimensions of the aortic root, and its distensibility, were calculated using standard techniques. We also examined a control group of 24 age matched normotensive patients with structurally normal hearts, who had been referred for evaluation of cardiac murmurs or chest pain.
Aortic dilation was the most common cardiac anomaly, seen in 11 of 24 (46%) individuals with Turner's syndrome, and none in control group. Of these individuals, 5 without cardiovascular risk factors had aortic dilation. In 2 young girls, aortic dimensions were normal, albeit with reduced distensibility. Aortic dilation correlated inversely with aortic distensibility, but not with age, karyotype or hormonal therapy.
Individuals with Turner's syndrome, even without cardiovascular risk factors, do develop aortic dilation accompanied by decreased aortic distensibility, suggestive of an intrinsic abnormality in elastic property of the ascending aorta.
据报道，患有特纳综合征的患者，无论有无心血管危险因素，均会出现主动脉扩张和夹层。二叶式主动脉瓣与主动脉根部扩张密切相关，尽管主动脉扩张的表现存在差异。然而，特纳综合征患者主动脉扩张表现差异的决定因素尚不清楚。
原发性间充质缺陷在特纳综合征患者中普遍存在，这可由骨基质、淋巴管和外周血管的异常表现推断得出。我们推测，主动脉固有弹性异常是特纳综合征患者主动脉扩张的先兆。
评估主动脉扩张性作为主动脉弹性指标在主动脉扩张风险分层中的作用，及其与年龄、核型和激素治疗的关系。
前瞻性横断面研究。
我们对24例特纳综合征患者进行了横断面M型和多普勒超声心动图检查。采用标准技术计算主动脉根部尺寸及其扩张性。我们还检查了24例年龄匹配、血压正常、心脏结构正常的对照组患者，这些患者因心脏杂音或胸痛前来接受评估。
主动脉扩张是最常见的心脏异常，在24例特纳综合征患者中有11例（46%）出现，而对照组中无一例出现。在这些患者中，5例无心血管危险因素的患者出现了主动脉扩张。在2名年轻女孩中，主动脉尺寸正常，尽管扩张性降低。主动脉扩张与主动脉扩张性呈负相关，但与年龄、核型或激素治疗无关。
特纳综合征患者，即使没有心血管危险因素，也会出现主动脉扩张，并伴有主动脉扩张性降低，提示升主动脉弹性存在内在异常。
