Pulmonary arterial hypertension associated with congenital heart disease
Synonyms: PAH associated with congenital heart disease
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations with left to right cardiac shunts. Eisenmenger syndrome is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pulmonary arterial hypertension associated with congenital heart disease | PAH associated with congenital heart disease |
| fr | Hypertension artérielle pulmonaire associée à une maladie cardiaque congénitale | HTAP associée à une maladie cardiaque congénitale |
| de | Pulmonale arterielle Hypertonie mit assoziierter kongenitaler Herzkrankheit | PAH mit assoziierter kongenitaler Herzkrankheit |
| es | Hipertensión arterial pulmonar asociada a enfermedad cardíaca congénita | HAP asociada a enfermedad cardíaca congénita |
| it | Ipertensione arteriosa polmonare associata a cardiopatia congenita | PAH associata a cardiopatia congenita |
| nl | Pulmonale arteriële hypertensie geassocieerd met congenitale hartziekte | PAH geassocieerd met congenitale hartziekte |
| pt | Hipertensão arterial pulmonar associada a cardiopatia congénita | |
| pl | Tętnicze nadciśnienie płucne związane z wrodzoną chorobą serca | PAH związane z wrodzoną chorobą serca |
| cs | Plicní arteriální hypertenze asociovaná s vrozenou srdeční vadou | PAH asociovaná s vrozenou srdeční vadou |
| uk | Легенева артеріальна гіпертензія, асоційована з вродженими вадами серця | ЛАГ, повязана з вродженими вадами серця |
| zh | 先天性心脏病相关肺动脉高压 | 先天性心脏病相关PAH |
| tr | Doğumsal kalp hastalıkla ilişkili pulmoner arteriyel hipertansiyon | Doğumsal kalp hastalığı ile ilişkili PAH |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17152 | E | validated | |
| UMLS | C3697119 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:275791Pulmonary arterial hypertension associated with another disease
rare respiratory diseases; rare transplant-related disorders
Children (1):
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
9 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.17 / 100 000 | France | Value and class | Validated | 16456139[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.026 / 100 000 | France | Value and class | Validated | 16456139[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.95 / 100 000 | United Kingdom | Value and class | Validated | 21885399[PMID]_17360728[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.2 / 100 000 | United Kingdom | Value and class | Validated | 21885399[PMID]_17360728[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.3 / 100 000 | Spain | Value and class | Validated | 22362843[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.46 / 100 000 | Czech Republic | Value and class | Validated | 24629043[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.22 / 100 000 | Czech Republic | Value and class | Validated | 24629043[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Netherlands | Class only | Validated | 24794056[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.57 / 100 000 | Europe | Value and class | Validated | 22362843[PMID]_16456139[PMID]_24629043[PMID]_21885399[PMID]_17360728[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/275803
- This record as JSON: /data/d/275803.json