The role of genomics and genetics in pulmonary arterial hypertension

Emilia M Swietlik, Stefan Gräf, Nicolas W Morrell

Abstract


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Although pulmonary hypertension (PH) had been recognised for centuries, it was not until the invention of cardiac catheterisation in the 1950s that enabled an accurate gene encoding bone morphogenetic protein receptor type 2, in patients with familial and clinical diagnosis. The discovery of heterozygous germline mutations in BMPR2, the idiopathic forms of pulmonary arterial hypertension (PAH) was another breakthrough in understanding the disease and initiated a new era in care of patients with this condition.


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DOI: http://dx.doi.org/10.21542/gcsp.2020.13

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Copyright (c) 2020 Emilia M Swietlik, Stefan Gräf, Nicolas W Morrell

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