KEGG   DISEASE: Hypoplastic left heart syndrome
Entry
H01272                      Disease                                

Name
Hypoplastic left heart syndrome
Description
Hypoplastic left heart syndrome (HLHS) is a severe, uniformly fatal congenital heart defect typically characterized by hypoplasia of the left ventricular chamber and aorta in association with stenosis and/or atresia of the mitral and aortic valves. There is now strong evidence implicating multiple genetic loci for HLHS. Potential mutations in at least 4 genes, GJA1, NKX2-5, NOTCH1, and HAND1, have been associated with HLHS.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the circulatory system
   H01272  Hypoplastic left heart syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the circulatory system
    Structural developmental anomaly of heart or great vessels
     LA89  Functionally univentricular heart
      H01272  Hypoplastic left heart syndrome
Related
pathway
hsa04550  Signaling pathways regulating pluripotency of stem cells
hsa04540  Gap junction
Gene
GJA1 [HSA:2697] [KO:K07372]
NKX2-5 [HSA:1482] [KO:K09345]
HAND1 [HSA:9421] [KO:K09071]
Comment
Defects in NOTCH1 are a cause of bicuspid aortic valve. [DS:H00554]
Other DBs
ICD-11: LA89.3
ICD-10: Q23.4
MeSH: D018636
OMIM: 241550 614435
Reference
  Authors
Grossfeld P, Ye M, Harvey R
  Title
Hypoplastic left heart syndrome: new genetic insights.
  Journal
J Am Coll Cardiol 53:1072-4 (2009)
DOI:10.1016/j.jacc.2008.12.024
Reference
  Authors
Dasgupta C, Martinez AM, Zuppan CW, Shah MM, Bailey LL, Fletcher WH
  Title
Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE).
  Journal
Mutat Res 479:173-86 (2001)
DOI:10.1016/S0027-5107(01)00160-9
Reference
  Authors
Elliott DA, Kirk EP, Yeoh T, Chandar S, McKenzie F, Taylor P, Grossfeld P, Fatkin D, Jones O, Hayes P, Feneley M, Harvey RP
  Title
Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.
  Journal
J Am Coll Cardiol 41:2072-6 (2003)
DOI:10.1016/S0735-1097(03)00420-0
Reference
  Authors
Reamon-Buettner SM, Ciribilli Y, Inga A, Borlak J
  Title
A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts.
  Journal
Hum Mol Genet 17:1397-405 (2008)
DOI:10.1093/hmg/ddn027
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