Orphanet: Idiopathic/heritable pulmonary arterial hypertension

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Idiopathic/heritable pulmonary arterial hypertension

Disease definition

A form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. The majority cases have an identifiable genetic cause, but a significant proportion are idiopathic.

ORPHA:422

Classification level: Disorder

Synonym(s):
- Idiopathic and/or familial pulmonary arterial hypertension
Prevalence: 1-9 / 100 000
Inheritance: Autosomal dominant or Not applicable or Autosomal recessive
Age of onset: All ages
ICD-10: I27.0
ICD-11: BB01.0
OMIM: 178600 265400 615342 615343 615344
UMLS: C5679820
MeSH: -
GARD: -
MedDRA: -

A summary on this disease is available in Español (2014) Nederlands (2014) Français (2007) Deutsch (2004) Italiano (2004) Slovak (2004, pdf) Polski ()

Detailed information

General public

Article for general public
Ukrainian (2021, pdf) - ELF
Français (2022) - ELF
Deutsch (2022) - ELF
Greek (2022) - ELF
Español (2022) - ELF
Italiano (2022) - ELF
Polski (2022) - ELF
Russian (2022) - ELF
Svenska (2022) - Socialstyrelsen
English (2023) - ELF

Guidelines

Emergency guidelines
Français (2020, pdf) - Orphanet Urgences

Clinical practice guidelines
English (2011) - Int J Cardiol
English (2016) - Eur Heart J
Français (2020) - PNDS
English (2022) - Eur Heart J
English (2023) - Eur J Heart Fail

Disease review articles

Review article
English (2013) - Orphanet J Rare Dis

Clinical genetics review
English (2020) - GeneReviews

Clinical Outcome Assessment (COA)

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Genetic Testing

Guidance for genetic testing
Français (2010, doc) - ANPGM

produced/endorsed by ERN(s) FSMR

produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Eurordis directory

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.