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Pulmonary Hypertension in Trisomy 21 Patients

This study has been completed.
Information provided by (Responsible Party):
Children's Healthcare of Atlanta Identifier:
First received: May 22, 2007
Last updated: March 14, 2012
Last verified: January 2008
Evidence has shown poor outcome for adult patients with pre-operative pulmonary hypertension following closure of an atrial septal defect. Life-threatening pulmonary hypertensive crises may occur in these patients when they no longer have an atrial communication to decompress high right heart pressures. This concern has led some to advocate fenestrated patch closure of ASDs in patients with pulmonary hypertension with the prospect of a repeated procedure in order to close the fenestrations at a later date.

Congenital Disorders

Study Type: Observational
Study Design: Time Perspective: Retrospective
Official Title: Case Report: Resolution of Pulmonary Hypertension With Sildenafil and Bosentan in Patients With Trisomy 21 and Atrial Septal Defect

Resource links provided by NLM:

Further study details as provided by Children's Healthcare of Atlanta:

Enrollment: 1
Study Start Date: October 2004
Study Completion Date: March 2008
Primary Completion Date: February 2007 (Final data collection date for primary outcome measure)
Detailed Description:

Pre-operative resolution of pulmonary hypertension would clearly provide the best long-term outcome for these patients, allowing a definitive surgical procedure. There are no reported cases of resolution of pulmonary hypertension with the use of pulmonary vasodilators allowing successful ASD closure.

We report the case of a patient with trisomy 21 and a primum atrial septum defect with associated cleft mitral valve who was diagnosed with pulmonary hypertension at 8 days of life. Elevated pulmonary pressures were documented by cardiac catheterization during which the patient was found to have minimally responsive pulmonary vasculature to the administration of oxygen. He was started on pulmonary vasodilators which were continued for the following 5 months which resulted in gradual reduction in estimated PA pressure allowing successful closure of the primum ASD and repair of the cleft mitral valve. Following surgery, he was not restarted on pulmonary vasodilators and has continued to do well. The ability to reverse his pulmonary hypertension through the use of pulmonary vasodilators made him a candidate for his successful, definitive surgical repair. He currently has no residual cardiac problems and requires no cardiac medications. There will be no patient follow-up.


Ages Eligible for Study:   up to 8 Days   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
This is a case report of one subject with trisomy 21 and a primum atrial septum defect with associated cleft mitral valve who was diagnosed with pulmonary hypertension at 8 days of life.

Inclusion Criteria:

  • case report of a patient with trisomy 21 and primum atrial septum defect with associated cleft mitral valve who was diagnosed with pulmonary hypertension at 8 days of life

Exclusion Criteria:

  • those who do not fit into inclusion criteria
  Contacts and Locations
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Please refer to this study by its identifier: NCT00478296

United States, Georgia
Children's Healthcare of Atlanta
Atlanta, Georgia, United States, 30322
Sponsors and Collaborators
Children's Healthcare of Atlanta
Principal Investigator: Heather M Phelps, DO Children's Healthcare of Atlanta
  More Information

Responsible Party: Children's Healthcare of Atlanta Identifier: NCT00478296     History of Changes
Other Study ID Numbers: 07-021
Study First Received: May 22, 2007
Last Updated: March 14, 2012

Keywords provided by Children's Healthcare of Atlanta:
Pulmonary hypertension
Trisomy 21
Atrial septal defect

Additional relevant MeSH terms:
Hypertension, Pulmonary
Down Syndrome
Heart Septal Defects, Atrial
Vascular Diseases
Cardiovascular Diseases
Lung Diseases
Respiratory Tract Diseases
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn
Chromosome Aberrations
Pathologic Processes
Chromosome Duplication
Heart Septal Defects
Heart Defects, Congenital
Cardiovascular Abnormalities
Heart Diseases
Sildenafil Citrate
Antihypertensive Agents
Endothelin Receptor Antagonists
Molecular Mechanisms of Pharmacological Action processed this record on May 25, 2017