Stevens C A, Bhakta M G
Department of Pediatrics, University of Tennessee, USA.
Am J Med Genet. 1995 Nov 20;59(3):346-8. doi: 10.1002/ajmg.1320590313.
In order to evaluate the incidence of cardiac anomalies, type of cardiac defects, and their impact in the Rubinstein-Taybi syndrome (RTS), a questionnaire study was done. Forty-five of 138 patients in the study (32.6%) had a known cardiac abnormality; 27 patients had single defects including atrial septal defect (ASD), ventricular septal defect (VSD), patent ductus arteriosus (PDA), coarctation of the aorta, pulmonic stenosis, or bicuspid aortic valve. Eight of these individuals had spontaneous resolution of their problems, while 8 required surgery. Sixteen patients had complex congenital heart defects or two or more abnormalities. Two patients had spontaneous resolution, while 7 required surgery. Surgery is planned in 5 additional patients. Five patients had conduction abnormalities. Individuals with congenital heart defects did not have a higher incidence of other birth defects. The significant incidence and potential severity of cardiac anomalies in our patients suggest that a cardiac evaluation should be strongly considered in patients with RTS.
为了评估心脏异常的发生率、心脏缺陷类型及其在鲁宾斯坦-泰比综合征（RTS）中的影响，开展了一项问卷调查研究。该研究中的138例患者中有45例（32.6%）存在已知的心脏异常；27例患者有单一缺陷，包括房间隔缺损（ASD）、室间隔缺损（VSD）、动脉导管未闭（PDA）、主动脉缩窄、肺动脉狭窄或二叶式主动脉瓣。其中8例患者的问题自行缓解，8例需要手术治疗。16例患者有复杂的先天性心脏缺陷或两种或更多异常。2例患者自行缓解，7例需要手术。另有5例患者计划进行手术。5例患者有传导异常。患有先天性心脏缺陷的个体其他出生缺陷的发生率并未更高。我们患者中心脏异常的显著发生率和潜在严重性表明，对于RTS患者应强烈考虑进行心脏评估。
