Gutmark-Little Iris, Hor Kan N, Cnota James, Gottliebson William M, Backeljauw Philippe F
Division of Endocrinology, Cincinnati Children's Hospital, Cincinnati, OH, USA.
J Pediatr Endocrinol Metab. 2012;25(5-6):435-40. doi: 10.1515/jpem-2012-0046.
Cardiovascular disease affects >50% of Turner syndrome (TS) patients. With newer imaging modalities, this prevalence increases and the spectrum of recognized anomalies broadens.
To determine the prevalence and hemodynamic significance of partial anomalous pulmonary venous return (PAPVR) in adolescents and young adults with TS using transthoracic echocardiogram (TTE) and cardiac magnetic resonance (CMR), and to study the association with phenotype.
The records of 39 young TS patients who had received TTE and CMR were reviewed.
PAPVR was diagnosed in seven (18%) patients; six were newly diagnosed by CMR after normal TTE. In one subject, PAPVR was associated with right ventricular enlargement and a pulmonic blood flow (Qp) to systemic blood flow (Qs) ratio of 1.9:1.0, necessitating surgical repair. In other subjects with and without PAPVR, Qp:Qs and the right ventricle to left ventricle end-diastolic volume ratio were statistically different. Other clinical features were not predictive of PAPVR.
The prevalence of PAPVR is high in TS, and it may be hemodynamically significant. Diagnosis by TTE can be difficult. Appropriate screening and management are indicated.
心血管疾病影响超过50%的特纳综合征（TS）患者。随着更新的成像方式出现，这种患病率增加，且已认识到的异常谱也在拓宽。
使用经胸超声心动图（TTE）和心脏磁共振成像（CMR）确定青少年和年轻成人TS患者中部分性肺静脉异位引流（PAPVR）的患病率及其血流动力学意义，并研究其与表型的关联。
回顾了39例接受过TTE和CMR检查的年轻TS患者的记录。
7例（18%）患者被诊断为PAPVR；6例在TTE检查正常后经CMR新诊断出。在1例受试者中，PAPVR与右心室扩大及肺循环血流量（Qp）与体循环血流量（Qs）之比为1.9:1.0相关，需要进行手术修复。在其他有或无PAPVR的受试者中，Qp:Qs以及右心室与左心室舒张末期容积比有统计学差异。其他临床特征不能预测PAPVR。
TS患者中PAPVR的患病率较高，且可能具有血流动力学意义。通过TTE进行诊断可能困难。需要进行适当的筛查和管理。
