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J Pediatr Surg. 2017 Nov;52(11):1747-1750. doi: 10.1016/j.jpedsurg.2017.01.007. Epub 2017 Jan 26.

Mutations in BMPR2 are not present in patients with pulmonary hypertension associated with congenital diaphragmatic hernia.

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Department of Pediatrics, Division of Cardiology, Columbia University Medical Center, 3959 Broadway, 2-Babies North, New York, NY 10032, USA. Electronic address:
Department of Pediatrics, Division of Molecular Genetics, Columbia University Medical Center, 1150 St. Nicholas Avenue, Room 620, New York, NY 10032, USA.
Department of Pediatrics, Division of Cardiology, Columbia University Medical Center, 3959 Broadway, 2-Babies North, New York, NY 10032, USA.
Division of Pediatric Surgery, Columbia University Medical Center, 3959 Broadway, New York, NY 10032, USA.
Department of Pediatric Surgery, Tel Hashomer Medical Center, Emek HaEla St 1, Ramat Gan, Israel.
Division of Pediatric Surgery, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, USA.
Division of Pediatric General, Thoracic, and Fetal Surgery, Center for Molecular Fetal Therapy, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave, Cincinnati, OH 45229, USA.
Department of Surgery, University of Michigan Health System, 1500 E. Medical Center Drive, Ann Arbor, MI 48109, USA.
Division of Pediatric Surgery, Oregon Health & Sciences University, 3181 S.W. Sam Jackson Park Road, Portland, OR 97239, USA.
Division of Pediatric Surgery, University of Nebraska Medical Center, College of Medicine, 42nd St and Emile St., Omaha, NE 68198, USA.
Department of Pediatric Surgery, Vanderbilt University Medical Center, Monroe Carell Jr. Children's Hospital at Vanderbilt, 2200 Children's Way, Doctors' Office Tower, Suite 7100, Nashville, TN 37232-9780, USA.



Congenital diaphragmatic hernia (CDH) is a prevalent major congenital anomaly with significant morbidity and mortality. Thirty to 40% mortality in CDH is largely attributed to pulmonary hypoplasia and pulmonary hypertension (PH). We hypothesized that the underlying genetic risk factors for hereditary PH are shared with CDH associated PH.


Participants were recruited as part of the Diaphragmatic Hernia Research & Exploration; Advancing Molecular Science (DHREAMS) study, a prospective cohort of neonates with a diaphragmatic defect enrolled from 2005 to 2012. PH affected patients with available DNA for sequencing had one of the following: moderate or severe PH on echocardiography at 3months of age; moderate of severe PH at 1month of age with death occurring prior to the 3month echocardiogram; or on PH medications at 1month of age. We sequenced the coding regions of the hereditary PH genes bone morphogenetic protein receptor type II (BMPR2), caveolin 1 (CAV1) and potassium channel subfamily K, member 3 (KCNK3) to screen for mutations.


There were 29 CDH patients with PH including 16 males and 13 females. Sequencing of BMPR2, CAV1, and KCNK3 coding regions did not identify any pathogenic variants in these genes.


Prognosis study LEVEL OF EVIDENCE: Level IV.


BMPR2; CAV1; Congenital diaphragmatic hernia; KCNK3; Pulmonary hypertension

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