Date of Award


Document Type

Scholarly Project

Degree Name

Master of Physician Assistant Studies (MPAS)


Physician Assistant Studies


pulmonary arterial hypertension; Duchenne muscular dystrophy; Down syndrome; congenital heart defects; pulmonary hypertension


The genetic cause of significant disorders like Down syndrome (DS) and Duchenne muscular dystrophy (DMD) is well documented. Pulmonary arterial hypertension (PAH), a co-morbid condition, is tied to mortality among these groups. If undetected or untreated, in DS, this condition can lead to complications with coronary and lung disease later in life. If undetected or untreated in DMD it can hasten the inevitable prognosis of the disease. Individuals with the ability to communicate their symptoms and actively participate in treatment are at an advantage with subsequent benefit. DS and DMD significantly decrease physical ability and communication capacity.

Genetic research has allowed for earlier identification of, or predisposition for, the development of PAH. Work has also progressed toward manipulation at the genetic level to decrease the severity and even eradicate the cardiopulmonary disorder. This information is beginning to be applied in treatment for individuals with PAH. The purpose of this scholarly project is to identify the research, prediction methods and treatment of PAH in individuals with Duchenne muscular dystrophy (DMD) and Down syndrome (DS) as it relates to decreased mortality or increased life expectancy among those groups. The results showed significant gains in the understanding of PAH, DS and DMD individually. There was little evidence of research focusing on PAH as it pertains particularly to DS or DMD. Original studies were sought as a priority in the development of this work. Some meta-analysis studies were included to further develop the expert opinion recommendations for treatment. Keyword searches and sub-heading searches were performed within the PUBMED and CLINAHL databases.

Included in

Pulmonology Commons