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2 OMIM references -
2 associated genes
8 signs/symptoms
COMMON GENES: 1
5 OMIM references -
4 associated genes
1 sign/symptom
Hypoplastic left heart syndrome
Familial progressive cardiac conduction defect

GJA1 NKX2-5
NKX2-5 SCN1B
SCN5A
TRPM4


COMMON
GENES
NKX2-5



Citations in the biomedical literature:


Hypoplastic left heart syndrome
GJA1 NKX2-5
Familial progressive cardiac conduction defect
SCN1B SCN5A TRPM4



Hypoplastic left heart syndrome
Familial progressive cardiac conduction defect

Synonym(s):
(no synonyms)

Synonym(s):
- Familial Lenègre disease
- Familial Lev disease
- Familial Lev-Lenègre disease
- Familial PCCD
- Familial progressive heart block
- Hereditary bundle branch defect

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare surgical cardiac disease
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: unknown
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
1 MeSH reference: D018636
External references:
5 OMIM references -
No MeSH references

Hypoplastic left heart syndrome
Familial progressive cardiac conduction defect

Very frequent
- Hypoplastic left heart / ventricle
- Stillbirth / neonatal death

Frequent
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption

Occasional
- Atrial septal defect / interauricular communication
- Maternal diabetes
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Patent ductus arteriosus
- Total / partial trisomy / duplication


Frequent
- Cardiac rhythm disorder / arrhythmia