ORPHA:99048

Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome

Synonyms: APV/PDA, non-Fallot type

Type: Malformation syndrome
Group: Disorder
Age of onset: Antenatal, Neonatal
Status: active

A rare, life-threatening, congenital, non-syndromic, conotruncal heart malformation disease characterized by absent or severely undeveloped pulmonary valve leaflets (with a restrictive ring of thickened tissue at the place of the pulmonary valve annulus), associated with an intact ventricular septum and a patent ductus arteriosus, manifesting with marked respiratory insufficiency. Additional features include dilated main pulmonary artery (with or without dilatation of pulmonary artery branches), to-and-fro flow at site of the dysplastic pulmonary valve, and systolic pressure gradient across narrowed pulmonary valve. Tricuspid atresia and variable extra-cardiac anomalies (e.g. diaphragmatic hernia or cleft lip/palate), may be present.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome	APV/PDA, non-Fallot type
fr	Syndrome d'agénésie de la valve pulmonaire-septum ventriculaire intact-persistance du canal artériel	Agénésie de la valve pulmonaire sans tétralogie de Fallot
de	Pulmonalklappenagenesie-intaktes Ventrikelseptum-persistierender Ductus arteriosus-Syndrom	Non-Fallot-Typ APV/PDA
es	Síndrome de agenesia de válvula pulmonar-septo interventricular íntegro-ductus arterioso persistente	APV/PDA tipo no Fallot · PVA/PDA tipo no Fallot
it	Sindrome da agenesia della valvola polmonare con setto ventricolare integro e perverietà del dotto arterioso
nl	Agenesie van pulmonalisklep - intact ventrikelseptum - persisterende ductus arteriosus-syndroom	APV/PDA, niet-Fallot-type
pt	Síndrome de agenesia da válvula pulmonar-septo ventricular intacto-canal arterial persistente	APV/PDA, tipo não-Fallot
pl	Zespół agenezji zastawki tętnicy płucnej-nieuszkodzonej przegrody międzykomorowej-przetrwałego przewodu tętniczego	Brak zastawki płucnej - ubytek przegrody międzykomorowej - przetrwały przewód tętniczy · APV/PDA, non-Fallot type · PVA/PDA, non-Fallot type
cs	Syndrom zahrnující agenezi pulmonální chlopně, defekt komorového septa a perzistující ductus arteriosus	APV/PDA, non-Fallotův typ · Syndrom zahrnující chybění pulmonální chlopně, defekt komorového septa a perzistující ductus arteriosus · PVA/PDA, non-Fallotův typ
uk	Атрезія легеневої артерії з інткатною міжшлуночковою перетинкою- синдром персистенції відкритої артеріальної протоки	APV/PDA, тип не Fallot
zh	肺动脉瓣发育不全-室间隔完整-持续性动脉导管（未闭）综合征	非法洛型肺动脉瓣发育不全/动脉导管未闭
tr	Pulmoner kapak agenezisi-sağlam ventriküler septum-kalıcı duktus arteriyozus sendromu	APV/PDA, Fallot olmayan tip

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	Q22.2	NTBT	attributed	validated
ICD-11	LA8A.Y	NTBT	attributed	validated
MONDO	0020389	E		validated
UMLS	C5191313	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):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (1):

ORPHA:982Pulmonary valve agenesis
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare circulatory system diseases

No children.

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Validated	ORPHANET

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/99048
This record as JSON: /data/d/99048.json