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Partial anomalous pulmonary venous return in Turner syndrome
Allard T van den Hoven1, Raluca G Chelu1, Anthonie L Duijnhouwer2
1Department of Congenital Cardiology, Erasmus MC, Rotterdam, the Netherlands; Department of Radiology, Erasmus MC, Rotterdam, the Netherlands.
European Journal of Radiology
|October 9, 2017
Summary
Partial anomalous pulmonary venous return (PAPVR) is common in Turner syndrome, affecting 25% of patients. Many cases go undiagnosed, and cardiac chamber enlargement is a frequent association.
Area of Science:
- Cardiology
- Genetics
- Medical Imaging
Background:
- Turner syndrome is a chromosomal condition affecting females.
- Cardiac anomalies are common in Turner syndrome.
- Partial anomalous pulmonary venous return (PAPVR) is a congenital heart defect where pulmonary veins do not connect normally to the left atrium.
Purpose of the Study:
- To determine the prevalence, anatomical details, associated conditions, and clinical significance of PAPVR in patients with Turner syndrome.
- To highlight the importance of specific cardiac evaluations in this population.
Main Methods:
- Retrospective analysis of 96 Turner syndrome patients from a specialized clinic (2007-2015).
- Utilized ECG, echocardiography, cardiac MRI, and CT scans for detailed anatomical assessment.
- All imaging data were re-evaluated by experts.
Main Results:
- PAPVR was identified in 24% (24/96) of Turner syndrome patients.
- A significant proportion (58%) of these PAPVR cases were previously unreported.
- Right atrial or ventricular dilatation was observed in 46% (11/24) of patients with PAPVR.
Conclusions:
- PAPVR is prevalent in Turner syndrome, detected in 1 in 4 patients when specifically investigated with advanced imaging.
- Cardiac chamber dilatation is a common finding in Turner patients with PAPVR.
- Routine inclusion of pulmonary venous return assessment in the standard care protocol for Turner syndrome patients is recommended.
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