Pulmonary Hypertension in Trisomy 21 Patients

Case Report: Resolution of Pulmonary Hypertension With Sildenafil and Bosentan in Patients With Trisomy 21 and Atrial Septal Defect

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.

Study Overview

• Status: Completed
• Conditions: Congenital Disorders

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.

• Study Type: Observational
• Enrollment (Actual): 1

Contacts and Locations

Study Locations

• United States
  • Georgia
    • Atlanta, Georgia, United States, 30322
      • Children's Healthcare of Atlanta

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 1 week (Child)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• 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.

Description

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

Study Plan

How is the study designed?

Collaborators and Investigators

• Sponsor: Children's Healthcare of Atlanta
• Investigators: Principal Investigator: Heather M Phelps, DO, Children's Healthcare of Atlanta

Study record dates

Study Major Dates

• Study Start: October 1, 2004
• Primary Completion (Actual): February 1, 2007
• Study Completion (Actual): March 1, 2008

Study Registration Dates

• First Submitted: May 22, 2007
• First Submitted That Met QC Criteria: May 23, 2007
• First Posted (Estimate): May 24, 2007

Study Record Updates

• Last Update Posted (Estimate): March 16, 2012
• Last Update Submitted That Met QC Criteria: March 14, 2012
• Last Verified: January 1, 2008

More Information

Terms related to this study

• Keywords: Bosentan; Pulmonary hypertension; Sildenafil; Trisomy 21; Atrial septal defect
• Additional Relevant MeSH Terms: Pathologic Processes; Cardiovascular Diseases; Vascular Diseases; Nervous System Diseases; Respiratory Tract Diseases; Lung Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Congenital Abnormalities; Genetic Diseases, Inborn; Intellectual Disability; Abnormalities, Multiple; Chromosome Disorders; Chromosome Aberrations; Aneuploidy; Chromosome Duplication; Hypertension; Hypertension, Pulmonary; Down Syndrome; Trisomy
• Other Study ID Numbers: 07-021