Pulmonary Hypertension in Trisomy 21 Patients

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.

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Key information

Conditions

Congenital Disorders Abnormalities, Multiple Cardiovascular Abnormalities Cardiovascular Diseases Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Down Syndrome Genetic Diseases, Inborn Heart Defects, Congenital Heart Diseases Heart Septal Defects Heart Septal Defects, Atrial Hypertension Hypertension, Pulmonary Intellectual Disability Lung Diseases Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Respiratory Tract Diseases Vascular Diseases

Age range

Up to 8 day

Sex eligibility

All sexes

Study type

Observational

Primary location

Children's Healthcare of Atlanta

Atlanta, Georgia, 30322, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Sponsors and collaborators

Lead sponsor

Children's Healthcare of Atlanta

Other

Registry information

Official study title

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

Important dates

Study start: 2004
Primary completion: 2007
Study completion: 2008
First posted: May 24, 2007
Registry last updated: Mar 16, 2012

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

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This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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