raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:2248

Hypoplastic left heart syndrome

Synonyms: HLHS

Type
Morphological anomaly
Group
Disorder
Inheritance
Unknown
Age of onset
Antenatal, Neonatal
Status
active

A rare, congenital, non-syndromic, heart malformation characterized by under development of the left-sided cardiac structures (including left ventricle, ascending aorta, aortic arch, and mitral and/or aortic valve) such that the left heart is unable to provide adequate systemic cardiac output.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enHypoplastic left heart syndromeHLHS
frHypoplasie du coeur gauche= en
deHypoplastisches Linksherzsyndrom= en
esSíndrome del corazón izquierdo hipoplásico
itSindrome del cuore ipoplasico= en
nlHypoplastisch linkerhartsyndroom= en
ptSíndrome de coração esquerdo hipoplástico
plZespół hipoplazji lewego serca= en
csSyndrom hypoplázie levého srdce= en
ukСиндром гіпоплазії лівих відділів серця= en
zh左心发育不良综合征= en
trHipoplastik sol kalp sendromu= en

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM241550Evalidated
OMIM614435BTNTvalidated
ICD-10Q23.4Especificvalidated
ICD-11LA89.3Especificvalidated
MONDO0004933Evalidated
MeSHD018636Evalidated
UMLSC0152101Evalidated
GARD6739Evalidated
MedDRA10021076Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

4

Genes

2 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
GJA1Major susceptibility factor inAssessedHGNC:4274ENSG000001526611210146q22.31gap junction protein alpha 111470490[PMID]_19683641[PMID]_19298922[PMID]
NKX2-5Major susceptibility factor inAssessedHGNC:2488ENSG000001830726005845q35.1NK2 homeobox 512798584[PMID]_14607454[PMID]_20456451[PMID]
5

Prevalence and incidence

24 records
TypeClassValueAreaQualificationValidationSource
Prevalence at birth1-9 / 100 0005.5 / 100 000PortugalValue and classValidatedEUROCAT European surveillance of congenital anomalies 2009[OTHER]
Prevalence at birth1-5 / 10 00012.5 / 100 000SwitzerlandValue and classValidatedEUROCAT European surveillance of congenital anomalies 2009[OTHER]
Prevalence at birth1-5 / 10 00016.6 / 100 000United KingdomValue and classValidatedEUROCAT European surveillance of congenital anomalies 2011[OTHER]
Prevalence at birth1-5 / 10 00022.3 / 100 000UkraineValue and classValidatedEUROCAT European surveillance of congenital anomalies 2011[OTHER]
Prevalence at birth1-9 / 100 0001.9 / 100 000SpainValue and classValidatedEUROCAT European surveillance of congenital anomalies 2010[OTHER]
Point prevalenceUnknown—WorldwideClass onlyNot yet validatedORPHANET
Prevalence at birth1-5 / 10 00018 / 100 000WorldwideValue and classNot yet validated27409588[PMID]_30661430[PMID]_2339046[PMID]_ORPHANET
Prevalence at birth1-5 / 10 00016.2 / 100 000United StatesValue and classValidated2339046[PMID]
Prevalence at birth1-5 / 10 00015.1 / 100 000EuropeValue and classValidatedEUROCAT European surveillance of congenital anomalies 2010[OTHER]
Prevalence at birth1-5 / 10 00049.1 / 100 000AustriaValue and classValidatedEUROCAT European surveillance of congenital anomalies 2009[OTHER]
Prevalence at birth1-5 / 10 00029.1 / 100 000BelgiumValue and classValidatedEUROCAT European surveillance of congenital anomalies 2011[OTHER]
Prevalence at birth1-5 / 10 00056.8 / 100 000CroatiaValue and classValidatedEUROCAT European surveillance of congenital anomalies 2010[OTHER]
Prevalence at birth1-5 / 10 00021.3 / 100 000DenmarkValue and classValidatedEUROCAT European surveillance of congenital anomalies 2011[OTHER]
Prevalence at birth1-5 / 10 00011.8 / 100 000FranceValue and classValidatedEUROCAT European surveillance of congenital anomalies 2011[OTHER]
Prevalence at birth1-5 / 10 00023.8 / 100 000GermanyValue and classValidatedEUROCAT European surveillance of congenital anomalies 2011[OTHER]
Prevalence at birth1-5 / 10 00019.9 / 100 000HungaryValue and classValidatedEUROCAT European surveillance of congenital anomalies 2010[OTHER]
Prevalence at birth1-5 / 10 00018.1 / 100 000IrelandValue and classValidatedEUROCAT European surveillance of congenital anomalies 2011[OTHER]
Prevalence at birth1-9 / 100 0009.9 / 100 000ItalyValue and classValidatedEUROCAT European surveillance of congenital anomalies 2011[OTHER]
Prevalence at birth1-5 / 10 00049.8 / 100 000MaltaValue and classValidatedEUROCAT European surveillance of congenital anomalies 2010[OTHER]
Prevalence at birth1-9 / 100 0005.8 / 100 000NetherlandsValue and classValidatedEUROCAT European surveillance of congenital anomalies 2011[OTHER]
Prevalence at birth1-5 / 10 00016.4 / 100 000NorwayValue and classValidatedEUROCAT European surveillance of congenital anomalies 2011[OTHER]
Prevalence at birth1-9 / 100 0009.2 / 100 000PolandValue and classValidatedEUROCAT European surveillance of congenital anomalies 2010[OTHER]
Prevalence at birth1-9 / 100 0008 / 100 000ChinaValue and classValidated27409588[PMID]
Prevalence at birth1-5 / 10 00011.6 / 100 000SwedenValue and classValidated30661430[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.

6

HPO phenotypes

8 annotations · validated 2016-06-01
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0004383Hypoplastic left heart
Frequent (79-30%)
HP:0012304Hypoplastic aortic arch
Occasional (29-5%)
HP:0002916Abnormality of chromosome segregation
HP:0001631Atrial septal defect
HP:0009800Maternal diabetes
HP:0011560Mitral atresia
HP:0001718Mitral stenosis
HP:0001643Patent ductus arteriosus

Run the differential on the 1 obligate / very frequent terms

7

Sources for this card