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Article

Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension

1 Oct 2018

Abstract excerpt

BACKGROUND: In pulmonary arterial hypertension (PAH), pathological changes in pulmonary arterioles progressively raise pulmonary artery pressure and increase pulmonary vascular resistance, leading to right heart failure and high mortality rates. Recently, the first potassium channelopathy in PAH, because of mutations in KCNK3, was identified as a genetic cause and pharmacological target. METHODS: Exome sequencing...

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PMID: 30354297
DOI: 10.1161/circgen.118.002087

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