{"orpha":275803,"name":"Pulmonary arterial hypertension associated with congenital heart disease","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["PAH associated with congenital heart disease"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-275803/","orphanet_url":"https://www.orpha.net/en/disease/detail/275803","names":{"fr":{"name":"Hypertension artérielle pulmonaire associée à une maladie cardiaque congénitale","synonyms":["HTAP associée à une maladie cardiaque congénitale"],"definition":"Hypertension artérielle pulmonaire associée à une maladie cardiaque congénitale Forme d'hypertension artérielle pulmonaire (HAP) caractérisée par une résistance artérielle pulmonaire élevée entraînant une insuffisance cardiaque droite. Il s'agit d'une complication courante des malformations cardiaques congénitales avec shunt cardiaque gauche-droite. Le syndrome d'Eisenmenger est la forme la plus avancée de HTAP-MCC. Il se définit par l'inversion complète ou partielle d'un shunt initial gauche-droite en un shunt droite-gauche, provoquant une cyanose et une capacité limitée d'exercice physique. L'HTAP-MCC concerne également les patients avec shunts systémiques-pulmonaires légers à modérés sans cyanose au repos, les patients présentant de légères malformations et ceux présentant une HTAP résiduelle après une chirurgie cardiaque corrective."},"de":{"name":"Pulmonale arterielle Hypertonie mit assoziierter kongenitaler Herzkrankheit","synonyms":["PAH mit assoziierter kongenitaler Herzkrankheit"]},"es":{"name":"Hipertensión arterial pulmonar asociada a enfermedad cardíaca congénita","synonyms":["HAP asociada a enfermedad cardíaca congénita"],"definition":"La hipertensión arterial pulmonar asociada a cardiopatía congénita (PAH-CHD, por sus siglas en inglés) es una forma de hipertensión arterial pulmonar (HAP), caracterizada por una resistencia arterial pulmonar elevada que conduce a insuficiencia cardíaca derecha que se presenta como una complicación común de las malformaciones cardíacas congénitas con cortocircuitos cardíacos de izquierda a derecha. El síndrome de Eisenmenger es la forma más avanzada de PAH-CHD y se define como la inversión total o parcial de un cortocircuito inicial de izquierda a derecha en un cortocircuito de derecha a izquierda, lo que provoca cianosis y una capacidad de ejercicio limitada. La PAH-CHD también incluye cortocircuitos sistémico-pulmonares de leves a moderados sin cianosis en reposo, pacientes con defectos pequeños y aquellos con PAH residual después de una cirugía cardíaca correctora."},"it":{"name":"Ipertensione arteriosa polmonare associata a cardiopatia congenita","synonyms":["PAH associata a cardiopatia congenita"]},"nl":{"name":"Pulmonale arteriële hypertensie geassocieerd met congenitale hartziekte","synonyms":["PAH geassocieerd met congenitale hartziekte"],"definition":"'Pulmonale arteriële hypertensie geassocieerd met congenitale hartziekte (PAH-CHD) is een vorm van pulmonale arteriële hypertensie (PAH; zie deze term) die wordt gekarakteriseerd door een verhoogde weerstand in de longslagaders die voorkomt als een gangbare complicatie van congenitale hartafwijkingen (zie deze term) met links-rechts shunts en die leidt tot een falen van de rechterzijde van het hart. Eisenmengersyndroom (zie deze term) is de meest gevorderde vorm van PAH-CHD en wordt gedefinieerd als complete of gedeeltelijke omkering van een initiële links-rechte shunt naar een rechts-links shunt, met cyanose en beperkte fysieke capaciteiten tot gevolg. PAH-CHD omvat ook milde tot middelmatige systemische-naar-pulmonaire shunts met geen cyanose in rust, patiënten met kleine afwijkingen, en patiënten met residuele PAH na een hartoperatie.'"},"pt":{"name":"Hipertensão arterial pulmonar associada a cardiopatia congénita"},"pl":{"name":"Tętnicze nadciśnienie płucne związane z wrodzoną chorobą serca","synonyms":["PAH związane z wrodzoną chorobą serca"]},"cs":{"name":"Plicní arteriální hypertenze asociovaná s vrozenou srdeční vadou","synonyms":["PAH asociovaná s vrozenou srdeční vadou"]},"uk":{"name":"Легенева артеріальна гіпертензія, асоційована з вродженими вадами серця","synonyms":["ЛАГ, повязана з вродженими вадами серця"],"definition":"Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH, see this term), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations (see this term) with left to right cardiac shunts. Eisenmenger syndrome (see this term) 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."},"zh":{"name":"先天性心脏病相关肺动脉高压","synonyms":["先天性心脏病相关PAH"],"definition":"肺动脉高压合并先天性心脏病(PAH-CHD)是肺动脉高压(PAH)的一种形式，其特征是肺动脉阻力升高导致右心衰竭，是先天性心脏畸形(见本词条)左向右分流的常见并发症。艾森门格综合征(见该词条)是PAH-CHD的最高级形式，其定义为从最初左向右分流到右向左分流的完全或部分逆转，导致紫癜和活动能力受限。PAH-CHD还包括静息状态下无青紫表现的轻度至中度体肺分流，有微小缺损的患者，以及心脏矫正术后有PAH残留的患者。"},"tr":{"name":"Doğumsal kalp hastalıkla ilişkili pulmoner arteriyel hipertansiyon","synonyms":["Doğumsal kalp hastalığı ile ilişkili PAH"]}},"xrefs":[{"source":"MONDO","code":"17152","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3697119","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":275791,"name":"Pulmonary arterial hypertension associated with another disease","classifications":[184,233]}],"children":[{"orpha":97214,"name":"Eisenmenger syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.17,"area":"France","status":"Validated","source":"16456139[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.026,"area":"France","status":"Validated","source":"16456139[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.95,"area":"United Kingdom","status":"Validated","source":"21885399[PMID]_17360728[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"United Kingdom","status":"Validated","source":"21885399[PMID]_17360728[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Spain","status":"Validated","source":"22362843[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.46,"area":"Czech Republic","status":"Validated","source":"24629043[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.22,"area":"Czech Republic","status":"Validated","source":"24629043[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Netherlands","status":"Validated","source":"24794056[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.57,"area":"Europe","status":"Validated","source":"22362843[PMID]_16456139[PMID]_24629043[PMID]_21885399[PMID]_17360728[PMID]"}],"phenotypes":null}