Key result
Pulmonary hypertension in multisystem genetic syndromes is increasingly recognized, though coexisting cardiopulmonary diseases complicate diagnosis and data on targeted therapy response remains sparse.
Why the study?
Pulmonary hypertension is increasingly recognized in multisystem genetic syndromes, but coexisting cardiac and pulmonary disease complicates etiology, and data on PH-targeted therapy response and prognosis are limited.
This review highlights the increasing recognition of pulmonary hypertension in multisystem genetic syndromes and the current lack of data regarding targeted therapies and prognosis.
Diagnosis of PH in genetic syndromes requires comorbidity exclusion; leaves open targeted therapy efficacy pending prospective data.
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.
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Sullivan et al. (2021) conducted a review in Pulmonary hypertension in genetic syndromes. Multisystem genetic syndromes was evaluated. Pulmonary hypertension in multisystem genetic syndromes is increasingly recognized, though coexisting cardiopulmonary diseases complicate diagnosis and data on targeted therapy response remains sparse.
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