Format

Send to:

Choose Destination

Links from PubMed

Items: 5

1.

Hypoplastic left heart syndrome

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 Syndrome Hypoplastic left heart syndrome-2 (HLHS2; 614435) is caused by mutation in the NKX2-5 gene (600584) on chromosome 5q35.1. Somatic mutations in the HAND1 gene (602406) have been identified in tissue samples from patients with HLHS. [from OMIM]

MedGen UID:
57746
Concept ID:
C0152101
Congenital Abnormality; Disease or Syndrome
2.

Hypoplastic right heart; intrauterine growth retardation

MedGen UID:
850712
Concept ID:
CN231400
Finding
3.

Hypoplastic right heart; tricuspid atresia; muscular ventricular septal defect; single umbilical artery

MedGen UID:
850701
Concept ID:
CN231394
Finding
4.

Hypoplastic left heart

Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta. [from HPO]

MedGen UID:
505616
Concept ID:
CN003882
Finding
5.

Single ventricle

MedGen UID:
504944
Concept ID:
CN001593
Finding
Format

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...