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Prevalence and Clinical Characteristics of Heterozygous RNF213 p.Arg4810Lys Variant Carriers Diagnosed With Chronic Thromboembolic Pulmonary Hypertension.

Takatoyo KikoRyotaro AsanoTomohiko IshibashiHiroyuki EndoNaruhiro NishiHiroya HayashiJin UedaTatsuo AokiAkihiro TsujiYoshikazu NakaokaTakeshi Ogo
Published in: Journal of the American Heart Association (2024)
variant. Clinical and angiographic characteristics of heterozygous variant carriers were not remarkably different from those of noncarriers of CTEPH. However, both heterozygous variant carriers with CTEPH and homozygous variant carriers with PPS showed tortuous vessels on angiography.
Keyphrases
  • pulmonary hypertension
  • early onset
  • optical coherence tomography
  • atrial fibrillation
  • pulmonary arterial hypertension