Abstract：
Aortic root dilation (ARD) has been described in 22q11.2DS, even without congenital heart disease (CHD). However, the clinical implications and longitudinal course are unclear. In this study, we evaluated aortic root (AR) dimensions in 22q112.DS adolescents/adults without major intracardiac CHDs, analyzed the progression over time and investigated correlations with extracardiac comorbidities.
AR dimensions were evaluated in 74 patients, measuring the sinus of Valsalva (VS) and proximal ascending aorta (AA), using Z-score to define mild, moderate and severe degrees. Changes in AR dimensions during longitudinal echocardiographic follow-up were investigated. Phenotypic characteristics have been collected.
Twenty-four patients (32.4%) showed ARD in terms of VS Z-score (2.43; IQR 2.08-3.01), eight (33.3%) of a moderate/severe degree. Thirteen (54.2%) had concomitant AAD (Z-score 2.34; IQR 1.60-2.85). The risk of ARD was significantly directly related to skeletal/connective tissue disorders (OR 12.82, 95% CI 1.43-115.31; p = 0.023) and inversely related to BMI (OR 0.86, 95% CI 0.77-0.97; p = 0.011). A significant increase in AR diameter\'s absolute value (p = 0.001) over time has been detected.
Isolated ARD is common in 22q11.2DS. Although some clinical risk factors have been identified, pathogenetic mechanisms and risk of complications are undefined. Regular cardiac evaluations should be part of the 22q11.2DS follow-up, and also in non-CHDs patients, to improve long-term outcome.
AR dimensions were evaluated in 74 patients, measuring the sinus of Valsalva (VS) and proximal ascending aorta (AA), using Z-score to define mild, moderate and severe degrees. Changes in AR dimensions during longitudinal echocardiographic follow-up were investigated. Phenotypic characteristics have been collected.
Twenty-four patients (32.4%) showed ARD in terms of VS Z-score (2.43; IQR 2.08-3.01), eight (33.3%) of a moderate/severe degree. Thirteen (54.2%) had concomitant AAD (Z-score 2.34; IQR 1.60-2.85). The risk of ARD was significantly directly related to skeletal/connective tissue disorders (OR 12.82, 95% CI 1.43-115.31; p = 0.023) and inversely related to BMI (OR 0.86, 95% CI 0.77-0.97; p = 0.011). A significant increase in AR diameter\'s absolute value (p = 0.001) over time has been detected.
Isolated ARD is common in 22q11.2DS. Although some clinical risk factors have been identified, pathogenetic mechanisms and risk of complications are undefined. Regular cardiac evaluations should be part of the 22q11.2DS follow-up, and also in non-CHDs patients, to improve long-term outcome.
摘要：
背景：主动脉根扩张（ARD）已在22q11.2DS中进行了描述，即使没有先天性心脏病（CHD）。然而,临床意义和纵向病程尚不清楚.在这项研究中,我们在22q112中评估了主动脉根（AR）尺寸。DS青少年/成人无主要心内CHD，分析了随时间的进展，并研究了与心外合并症的相关性。
方法：对74例患者进行了AR维度评估，测量Valsalva窦（VS）和近端升主动脉（AA），用Z评分来定义轻度，中度和重度。研究了纵向超声心动图随访期间AR尺寸的变化。已经收集了表型特征。
结果：24例患者（32.4％）在VSZ评分方面显示ARD（2.43；IQR2.08-3.01），中度/重度八度（33.3%）。13例（54.2%）合并AAD（Z评分2.34；IQR1.60-2.85）。ARD的风险与骨骼/结缔组织疾病显着直接相关（OR12.82，95％CI1.43-115.31；p=0.023），与BMI成反比（OR0.86，95％CI0.77-0.97；p=0.011）。已检测到AR直径的绝对值(p=0.001)随时间显著增加。
结论：隔离的ARD在22q11.2DS中很常见。尽管已经确定了一些临床风险因素，发病机制和并发症风险尚不明确.定期心脏评估应该是22q11.2DS随访的一部分，在非冠心病患者中，改善长期结果。
方法：对74例患者进行了AR维度评估，测量Valsalva窦（VS）和近端升主动脉（AA），用Z评分来定义轻度，中度和重度。研究了纵向超声心动图随访期间AR尺寸的变化。已经收集了表型特征。
结果：24例患者（32.4％）在VSZ评分方面显示ARD（2.43；IQR2.08-3.01），中度/重度八度（33.3%）。13例（54.2%）合并AAD（Z评分2.34；IQR1.60-2.85）。ARD的风险与骨骼/结缔组织疾病显着直接相关（OR12.82，95％CI1.43-115.31；p=0.023），与BMI成反比（OR0.86，95％CI0.77-0.97；p=0.011）。已检测到AR直径的绝对值(p=0.001)随时间显著增加。
结论：隔离的ARD在22q11.2DS中很常见。尽管已经确定了一些临床风险因素，发病机制和并发症风险尚不明确.定期心脏评估应该是22q11.2DS随访的一部分，在非冠心病患者中，改善长期结果。
