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Hypoplastic left heart syndrome 1(HLHS1)

MedGen UID:
1646779
Concept ID:
C4551854
Disease or Syndrome
Synonym: HLHS1
 
Monarch Initiative: MONDO:0009433
OMIM®: 241550

Definition

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]

Clinical features

From HPO
Coarctation of aorta
MedGen UID:
1617
Concept ID:
C0003492
Congenital Abnormality
Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
Aortic valve stenosis
MedGen UID:
1621
Concept ID:
C0003507
Pathologic Function
The presence of a stenosis (narrowing) of the aortic valve.
Hypoplastic left heart syndrome
MedGen UID:
57746
Concept ID:
C0152101
Disease or Syndrome
Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nEach of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.\n\nPeople with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.

Professional guidelines

PubMed

Aldridge N, Pandya P, Rankin J, Miller N, Broughan J, Permalloo N, McHugh A, Stevens S
BJOG 2023 Jan;130(1):51-58. Epub 2022 Sep 12 doi: 10.1111/1471-0528.17287. PMID: 36054171

Recent clinical studies

Etiology

Bleiweis MS, Philip J, Peek GJ, Fudge JC, Sullivan KJ, Co-Vu J, Gupta D, Shih R, Pietra BBA, Fricker FJ, Vyas HV, Hernandez-Rivera JF, Powers ER, Nixon CS, Falasa M, Jacobs JP
Ann Thorac Surg 2022 Oct;114(4):1412-1418. Epub 2022 Mar 15 doi: 10.1016/j.athoracsur.2022.02.051. PMID: 35304109
Tinker SC, Gilboa SM, Moore CA, Waller DK, Simeone RM, Kim SY, Jamieson DJ, Botto LD, Fisher SC, Reefhuis J; National Birth Defects Prevention Study
Birth Defects Res 2021 Aug 15;113(14):1084-1097. Epub 2021 Apr 19 doi: 10.1002/bdr2.1900. PMID: 33876578Free PMC Article
Unal S, Bilgin L, Gunduz M, Uncu N, Azili MN, Tiryaki T
J Matern Fetal Neonatal Med 2012 Oct;25(10):2111-4. Epub 2012 Mar 16 doi: 10.3109/14767058.2012.665105. PMID: 22420616
Abu-Sulaiman RM, Subaih B
Pediatr Cardiol 2004 Mar-Apr;25(2):137-40. Epub 2003 Dec 4 doi: 10.1007/s00246-003-0538-8. PMID: 14648003

Diagnosis

Abu-Sulaiman RM, Subaih B
Pediatr Cardiol 2004 Mar-Apr;25(2):137-40. Epub 2003 Dec 4 doi: 10.1007/s00246-003-0538-8. PMID: 14648003
Backer CL, Zales VR, Idriss FS, Lynch P, Crawford S, Benson DW Jr, Mavroudis C
J Heart Lung Transplant 1992 Mar-Apr;11(2 Pt 1):311-9. PMID: 1576137

Therapy

Ugaki S, Khoo NS, Ross DB, Rebeyka IM, Adatia I
Circ J 2013;77(10):2514-8. Epub 2013 Jul 20 doi: 10.1253/circj.cj-12-1635. PMID: 23877731
Unal S, Bilgin L, Gunduz M, Uncu N, Azili MN, Tiryaki T
J Matern Fetal Neonatal Med 2012 Oct;25(10):2111-4. Epub 2012 Mar 16 doi: 10.3109/14767058.2012.665105. PMID: 22420616
Backer CL, Zales VR, Idriss FS, Lynch P, Crawford S, Benson DW Jr, Mavroudis C
J Heart Lung Transplant 1992 Mar-Apr;11(2 Pt 1):311-9. PMID: 1576137

Prognosis

Abu-Sulaiman RM, Subaih B
Pediatr Cardiol 2004 Mar-Apr;25(2):137-40. Epub 2003 Dec 4 doi: 10.1007/s00246-003-0538-8. PMID: 14648003
Backer CL, Zales VR, Idriss FS, Lynch P, Crawford S, Benson DW Jr, Mavroudis C
J Heart Lung Transplant 1992 Mar-Apr;11(2 Pt 1):311-9. PMID: 1576137
Cooper MM, Fuzesi L, Addonizio LJ, Hsu DT, Smith CR, Rose EA
J Thorac Cardiovasc Surg 1991 Sep;102(3):386-94; discussion 394-5. PMID: 1881178

Clinical prediction guides

Tinker SC, Gilboa SM, Moore CA, Waller DK, Simeone RM, Kim SY, Jamieson DJ, Botto LD, Fisher SC, Reefhuis J; National Birth Defects Prevention Study
Birth Defects Res 2021 Aug 15;113(14):1084-1097. Epub 2021 Apr 19 doi: 10.1002/bdr2.1900. PMID: 33876578Free PMC Article
Abu-Sulaiman RM, Subaih B
Pediatr Cardiol 2004 Mar-Apr;25(2):137-40. Epub 2003 Dec 4 doi: 10.1007/s00246-003-0538-8. PMID: 14648003

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