Download Full Text (268 KB)
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. 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. A literature review was conducted 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.
pulmonary arterial hypertension; Duchenne muscular dystrophy; Down syndrome; congenital heart defects; pulmonary hypertension
Volin, Mitchell, "Decreased mortality of pulmonary arterial hypertension in Duchenne muscular dystrophy and Down syndrome" (2018). Physician Assistant Scholarly Project Posters. 28.