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).
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.Hypoplastic Left Heart Syndrome 1; Hlhs1 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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Heterotaxy V2 Panel.
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ZIC3, CRELD1, ACVR2B, CFC1, BCL9L, NKX2-5, CFAP53, DNAH11, DNAH5, NAT10, SHROOM3, LEFTY2, FOXH1, GATA6, GDF1, GJA1, NODAL
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GJA1 sequencing.
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Ataxia Exome Panel.
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GJA1.
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Lymphedema NGS Multi-Gene Panel (36 Genes).
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).
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GJA1. Complete sequencing.
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Learn moreSources and references
You can check the following sources for additional information.
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