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.

Hypoplastic Left Heart Syndrome 1; Hlhs1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Oculodentodigital Dysplasia.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

GJA1
Specificity
100 %
Genes
100 %
Anophthalmia/microphthalmia.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).

BMP4, SIX6, SOX2, TFAP2A, VAX1, ALX1, PORCN, MFRP, RAX, VSX2, BCOR, COL4A1, FREM1, CRYBA4, TENM3, STRA6, FOXE3, PRSS56, ALDH1A3, GDF3 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Heterotaxy V2 Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

ZIC3, CRELD1, ACVR2B, CFC1, BCL9L, NKX2-5, CFAP53, DNAH11, DNAH5, NAT10, SHROOM3, LEFTY2, FOXH1, GATA6, GDF1, GJA1, NODAL
Specificity
6 %
Genes
100 %
GJA1 sequencing.

By Genetic Services Laboratory University of Chicago (United States).

GJA1
Specificity
100 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
GJA1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

GJA1
Specificity
100 %
Genes
100 %
Lymphedema NGS Multi-Gene Panel (36 Genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

BRAF, SOS1, SOX18, VEGFC, CBL, SHOC2, GJC2, TUBGCP6, CDK19, SPRED1, FAT4, ALG8, CCBE1, FLT4, FOXC2, GATA2, GJA1, GLA, HGF, HRAS , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
GJA1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

GJA1
Specificity
100 %
Genes
100 %

You can get up to 78 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEONATAL ADRENOLEUKODYSTROPHY HYPOTRICHOSIS 8; HYPT8 DIGEORGE SYNDROME; DGS HYPERTELORISM, TEEBI TYPE