Partial anomalous pulmonary venous return is common in Turner syndrome.

ABSTRACT

BACKGROUND: Cardiovascular disease affects >50% of Turner syndrome (TS) patients. With newer imaging modalities, this prevalence increases and the spectrum of recognized anomalies broadens. OBJECTIVE: 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. METHODS: The records of 39 young TS patients who had received TTE and CMR were reviewed. RESULTS: 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 1.91.0, necessitating surgical repair. In other subjects with and without PAPVR, QpQs and the right ventricle to left ventricle end-diastolic volume ratio were statistically different. Other clinical features were not predictive of PAPVR. CONCLUSIONS: 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.