Clinical features of pulmonary arterial hypertension in young people with an ALK1 mutation and hereditary haemorrhagic telangiectasia

Background:Pulmonary arterial hypertension (PAH) has been linked to mutations in genes encoding two members of the transforming growth factor-β family, BMPR2 and ALK1, the latter of which is also associated with hereditary haemorrhagic telangiectasia (HHT). Relatively little is known about the genet...

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Veröffentlicht in:	Archives of disease in childhood 2009-07, Vol.94 (7), p.506-511
Hauptverfasser:	Smoot, L B, Obler, D, McElhinney, D B, Boardman, K, Wu, B-L, Lip, V, Mullen, M P
Format:	Artikel
Sprache:	eng
Schlagworte:	Activin Receptors, Type II - genetics Adolescent Adolescents Anatomy Biological and medical sciences Cardiovascular disease Child, Preschool Children Congenital diseases Deoxyribonucleic acid Diagnosis Diseases DNA DNA Mutational Analysis Families & family life Family (Sociological Unit) Gene mutation Gene mutations General aspects Genetic aspects Genetic Predisposition to Disease - genetics Genetic screening Genetic Testing Genetics Genotype & phenotype Hereditary hemorrhagic telangiectasia Humans Hypertension Hypertension, Pulmonary - complications Hypertension, Pulmonary - diagnosis Hypertension, Pulmonary - genetics Medical sciences Miscellaneous Mutation Nitric oxide Patients Pediatric diseases Pedigree Physiological aspects Pneumology Prevention and actions Public health. Hygiene Public health. Hygiene-occupational medicine Pulmonary arteries Pulmonary hypertension Pulmonary hypertension. Acute cor pulmonale. Pulmonary embolism. Pulmonary vascular diseases Scientific Concepts Studies Teenagers Telangiectasia, Hereditary Hemorrhagic Telangiectasia, Hereditary Hemorrhagic - complications Telangiectasia, Hereditary Hemorrhagic - genetics Veins & arteries
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