An adult patient with pulmonary arterial hypertension, a NOTCH3 mutation, and leflunomide exposure

Autor:	Elizabeth G. Fenner, Catherine E. Simpson
Jazyk:	angličtina
Rok vydání:	2024
Předmět:	case report genetic counseling multiple sclerosis NOTCH3 Pulmonary arterial hypertension Diseases of the circulatory (Cardiovascular) system RC666-701 Diseases of the respiratory system RC705-779
Zdroj:	Pulmonary Circulation, Vol 14, Iss 3, Pp n/a-n/a (2024)
Druh dokumentu:	article
ISSN:	2045-8940
DOI:	10.1002/pul2.12411
Popis:	Abstract Pulmonary arterial hypertension (PAH) is a poorly understood disease of the small pulmonary arteries. Pulmonary vascular remodeling and progressively rising pulmonary vascular resistance are hallmarks of the disease that ultimately result in right heart failure. Several genetic mutations, most notably in bone morphogenetic protein receptor type 2, have a causal association with heritable forms of PAH. Mutations in neurogenic locus notch homolog protein 3 (NOTCH3) have been reported in adults and children with PAH, but whether NOTCH3 is causally associated with PAH is debated. With this case report, we describe the clinical characteristics, comorbidities, and exposure history of an adult patient with PAH and multiple sclerosis who was found to have a NOTCH3 missense mutation and exposure to leflunomide.
Databáze:	Directory of Open Access Journals
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