Hypoplastic Left Heart Syndrome 1; Hlhs1

Description

Hypoplastic left heart syndrome results from defective development of the aorta proximal to the entrance of the ductus arteriosus and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged (Brekke, 1953). Genetic Heterogeneity of Hypoplastic Left Heart SyndromeHypoplastic left heart syndrome-2 (HLHS2 ) is caused by mutation in the NKX2-5 gene (OMIM ) on chromosome 5q35.1.Somatic mutations in the HAND1 gene (OMIM ) have been identified in tissue samples from patients with HLHS.

Clinical Features

Phenotypes and symptoms related to Hypoplastic Left Heart Syndrome 1; Hlhs1

  • Abnormality of cardiovascular system morphology
  • Patent ductus arteriosus
  • Abnormal heart morphology
  • Coarctation of aorta
  • Aortic valve stenosis
  • Bicuspid aortic valve
  • Hypoplastic left heart
  • Hypoplastic aortic arch
  • Mitral atresia

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Hypoplastic Left Heart Syndrome 1; Hlhs1 Is also known as hlhs.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Hypoplastic Left Heart Syndrome 1; Hlhs1 Recommended genes panels

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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