Abstract
We describe the case of an 83-year-old man with a family history of pulmonary hypertension (PH) who presented with severe pulmonary arterial hypertension (PAH) and later tested positive for a novel bone morphogenetic protein receptor 2 (BMPR2) gene mutation. To our knowledge, this may be the oldest reported patient with PAH in whom a BMPR2 mutation was initially identified.
MeSH terms
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Aged, 80 and over
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Amlodipine / therapeutic use
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Bone Morphogenetic Protein Receptors, Type II / genetics*
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Bosentan
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Digoxin / therapeutic use
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Dyspnea / drug therapy
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Dyspnea / genetics
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Dyspnea / physiopathology
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Humans
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Hypertension, Pulmonary / genetics*
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Hypertension, Pulmonary / physiopathology*
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Male
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Pulmonary Artery / physiopathology*
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Sulfonamides / therapeutic use
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Warfarin / therapeutic use
Substances
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Sulfonamides
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Amlodipine
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Warfarin
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Digoxin
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BMPR2 protein, human
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Bone Morphogenetic Protein Receptors, Type II
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Bosentan