ORPHA:402075

Familial bicuspid aortic valve

Synonyms: Familial BAV

Type: Morphological anomaly
Group: Disorder
Inheritance: Autosomal dominant
Age of onset: Infancy, Neonatal
Status: active

Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Familial bicuspid aortic valve	Familial BAV
fr	Bicuspidie aortique familiale	Bicuspidie valvulaire aortique familiale · VAB familiale · Valve aortique bicuspide familiale
de	Bikuspide Aortenklappe, familiäre Form	Familiäre BAV
es	Válvula aórtica bicúspide familiar
it	Valvola aortica bicuspide familiare
nl	Familiale bicuspide aortaklep	Familiale BAV
pt	Válvula aórtica bicúspida, forma familiar
pl	Rodzinna dwupłatkowa zastawka aortalna	= en
cs	Familiární bikuspidální aortální chlopeň	= en
uk	Сімейний двостулковий аортальний клапан	Сімейний BAV
zh	家族性二叶式主动脉瓣	家族性BAV
tr	Ailesel biküspid aort kapağı	Ailesel BAV

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	109730	E		validated
OMIM	614823	BTNT		validated
OMIM	617912	NTBT		validated
OMIM	618496	BTNT		validated
ICD-10	Q23.1	NTBT	attributed	validated
ICD-11	LA8A.22	NTBT	attributed	validated
MONDO	0007194	E		validated
UMLS	C4749284	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 (3):

ORPHA:98718Aortic malformation
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare circulatory system diseases
ORPHA:271853Genetic cardiac anomaly
rare genetic diseases
ORPHA:285014Rare disease with thoracic aortic aneurysm and aortic dissection
rare genetic diseases; rare surgical thoracic diseases; rare circulatory system diseases

No children.

Genes

5 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
GATA5	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:15802	ENSG00000130700	611496	20q13.33	GATA binding protein 5	24638895[PMID]
NKX2-5	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:2488	ENSG00000183072	600584	5q35.1	NK2 homeobox 5	25438918[PMID]
NOTCH1	Disease-causing germline mutation(s) in	Assessed	HGNC:7881	ENSG00000148400	190198	9q34.3	notch receptor 1	16025100[PMID]
ROBO4	Disease-causing germline mutation(s) in	Assessed	HGNC:17985	ENSG00000154133	607528	11q24.2	roundabout guidance receptor 4	30455415[PMID]
SMAD6	Disease-causing germline mutation(s) in	Assessed	HGNC:6772	ENSG00000137834	602931	15q22.31	SMAD family member 6	22275001[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

12 annotations · validated 2017-06-07

HPO	Term (as annotated by Orphanet)	Diagnostic
Obligate (100%)
HP:0001647	Bicuspid aortic valve
Very frequent (99-80%)
HP:0001659	Aortic regurgitation
HP:0004380	Aortic valve calcification
HP:0001650	Aortic valve stenosis
HP:0001680	Coarctation of aorta
HP:0030148	Heart murmur
HP:0004962	Thoracic aorta calcification
Frequent (79-30%)
HP:0005113	Dilatation of the aortic arch
HP:0000822	Hypertension
Very rare (<4-1%)
HP:0011103	Abnormal left ventricular outflow tract morphology
HP:0004933	Ascending aortic dissection
HP:0004383	Hypoplastic left heart

Run the differential on the 7 obligate / very frequent terms

Annotation source: 16025100[PMID]_22275001[PMID]_9631276[PMID]_16025100[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/402075
This record as JSON: /data/d/402075.json