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European Heart Journal Advance Access originally published online on July 4, 2009
European Heart Journal 2009 30(20):2485-2492; doi:10.1093/eurheartj/ehp271
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Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2009. For permissions please email: journals.permissions@oxfordjournals.org

First locus for primary pulmonary vein stenosis maps to chromosome 2q

Ingrid van de Laar1, Marja Wessels1, Ingrid Frohn-Mulder2, Michiel Dalinghaus2, Bianca de Graaf1, Marianne van Tienhoven1, Paul van der Moer3, Margreet Husen-Ebbinge4, Maarten Lequin5, Dennis Dooijes1, Ronald de Krijger6, Ben A. Oostra1 and Aida M. Bertoli-Avella7,*

1 Department of Clinical Genetics, Erasmus Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands
2 Department of Pediatric Cardiology, Erasmus Medical Center-Sophia, Rotterdam, The Netherlands
3 Department of Gynaecology and Obstetrics, Medical Center Rijnmond-Zuid, Rotterdam, The Netherlands
4 Department of Gynaecology and Obstetrics, Erasmus Medical Center, Rotterdam, The Netherlands
5 Department of Radiology, Erasmus Medical Center, Rotterdam, The Netherlands
6 Department of Pathology, Erasmus Medical Center, Rotterdam, The Netherlands
7 CBG-Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands

Received 17 November 2008; revised 19 February 2009; accepted 11 June 2009; online publish-ahead-of-print 4 July 2009.

* Corresponding author. Tel: +31 10 7044628, Fax: +31 10 7044736, Email: a.bertoliavella{at}erasmusmc.nl

Aims: Primary pulmonary vein stenosis (PVS) is a rare cardiac abnormality that exhibits a high morbidity and mortality rate. The disease is characterized by obstruction of the pulmonary venous blood flow owing to congenital hypoplasia of individual extra-pulmonary veins. We describe a consanguineous Turkish family with four affected siblings with primary PVS in association with prenatal lymphatic abnormalities. We aimed to map the first gene for primary PVS.

Methods and results: Patients had extensive cardiological examinations including electrocardiograms, echocardiograms, ventilation–perfusion scans, and cardiac catheterizations. All patients died before the age of 16 months because of severe progressive primary PVS. Chromosomal analysis revealed normal karyotypes. We performed a genome-wide linkage analysis using 250 K single nucleotide polymorphism arrays and found the first locus for primary PVS on chromosome 2q35-2q36.1 [multipoint logarithms (base 10) of odds (LOD) scores 3.6]. By fine-mapping with microsatellite markers, we confirmed the homozygous region that extended 6.6 Mb (D2S164–D2S133). Sequencing 12 (188 exons) of the 88 genes from the region revealed no disease-causing sequence variations.

Conclusion: Our findings open perspectives for the identification of the genetic cause(s) leading to PVS, which might contribute to elucidate the pathological mechanisms involved in this disorder.

Key Words: Primary pulmonary vein stenosis • Genome wide • Linkage analysis • SNP arrays


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