Genotypes and Phenotypes: A Review of Pulmonary Hypertension in Genetic Syndromes

Abstract

There has been significant advancement in the understanding of the genetics of pulmonary hypertension (PH), particularly in those with heritable or idiopathic pulmonary arterial hypertension. In addition to genetic variants with a primarily pulmonary vascular disease phenotype, the prevalence of PH in other genetic syndromes is increasingly recognized. We will review the current knowledge of PH associated with multisystem genetic syndromes. There is high prevalence of coexisting cardiac and pulmonary disease, making it challenging to discern whether PH is secondary to these processes or underlying genetic makeup. There is a paucity of data on response to PH-targeted therapy and implications on overall prognosis.