Jornal de Síndromes Genéticas e Terapia Gênica
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Treatment of Pulmonary Hypertension in Downs Syndrome

Herbert S and Tulloh RMR

Down’s Syndrome(DS) is the most common chromosomal abnormality associated with multiple comorbidities including congenital heart disease and respiratory disease typically with airway obstruction. These comorbidities have been documented to contribute to pulmonary arterial hypertension (PAH) within months if left untreated. It is therefore of paramount importance to identify congenital abnormalities to prevent the progression of PAH in such people. Since people with DS have a higher risk of developing PAH in comparison to the normal population, they must be both monitored for symptoms of disease as categorized by WHO functional class and be actively treated in order to halt or slow the disease process.