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Hypoplastic left heart syndrome 2(HLHS2)

MedGen UID:
482425
Concept ID:
C3280795
Disease or Syndrome
Synonym: HLHS2
 
Gene (location): NKX2-5 (5q35.1)
 
Monarch Initiative: MONDO:0013752
OMIM®: 614435

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). For a discussion of genetic heterogeneity of hypoplastic left heart syndrome, see HLHS1 (241550). [from OMIM]

Additional description

From MedlinePlus Genetics
People 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.

Each 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.

Some 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.

Although 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.

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.  https://medlineplus.gov/genetics/condition/critical-congenital-heart-disease

Clinical features

From HPO
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
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.
Aortic valve atresia
MedGen UID:
451016
Concept ID:
C0265843
Congenital Abnormality
A congenital disorder of the aortic valve in which the orifice of the valve fails to develop.
Mitral atresia disorder
MedGen UID:
91035
Concept ID:
C0344760
Congenital Abnormality
A congenital defect with failure to open of the mitral valve orifice.

Professional guidelines

PubMed

Agarwal A, Firdouse M, Brar N, Yang A, Lambiris P, Chan AK, Mondal TK
Clin Appl Thromb Hemost 2017 Nov;23(8):911-921. Epub 2016 Nov 22 doi: 10.1177/1076029616679506. PMID: 27879470
Thakur V, Munk N, Mertens L, Nield LE
Prenat Diagn 2016 Sep;36(9):854-63. Epub 2016 Aug 21 doi: 10.1002/pd.4873. PMID: 27416335
Deeg KH
Ultraschall Med 2015 Apr;36(2):104-18; quiz 119-20. Epub 2014 Dec 4 doi: 10.1055/s-0034-1385493. PMID: 25474186

Recent clinical studies

Etiology

Geoffrion TR, Fuller SM
World J Pediatr Congenit Heart Surg 2022 Sep;13(5):593-599. doi: 10.1177/21501351221111390. PMID: 36053102
Generali T, Hermuzi A, Sajnach-Menke M, Johnson A, Crossland DS, O'Sullivan JJ, Nassar M, Hasan A, De Rita F
World J Pediatr Congenit Heart Surg 2022 May;13(3):311-320. doi: 10.1177/21501351211073614. PMID: 35446214
Rickers C, Wegner P, Silberbach M, Madriago E, Gabbert DD, Kheradvar A, Voges I, Scheewe J, Attmann T, Jerosch-Herold M, Kramer HH
Circ Cardiovasc Imaging 2021 Oct;14(10):e012468. Epub 2021 Oct 6 doi: 10.1161/CIRCIMAGING.121.012468. PMID: 34610753
Roeleveld PP, Axelrod DM, Klugman D, Jones MB, Chanani NK, Rossano JW, Costello JM
Cardiol Young 2018 Nov;28(11):1275-1288. Epub 2018 Sep 18 doi: 10.1017/S104795111800135X. PMID: 30223915
Feinstein JA, Benson DW, Dubin AM, Cohen MS, Maxey DM, Mahle WT, Pahl E, Villafañe J, Bhatt AB, Peng LF, Johnson BA, Marsden AL, Daniels CJ, Rudd NA, Caldarone CA, Mussatto KA, Morales DL, Ivy DD, Gaynor JW, Tweddell JS, Deal BJ, Furck AK, Rosenthal GL, Ohye RG, Ghanayem NS, Cheatham JP, Tworetzky W, Martin GR
J Am Coll Cardiol 2012 Jan 3;59(1 Suppl):S1-42. doi: 10.1016/j.jacc.2011.09.022. PMID: 22192720Free PMC Article

Diagnosis

Rickers C, Wegner P, Silberbach M, Madriago E, Gabbert DD, Kheradvar A, Voges I, Scheewe J, Attmann T, Jerosch-Herold M, Kramer HH
Circ Cardiovasc Imaging 2021 Oct;14(10):e012468. Epub 2021 Oct 6 doi: 10.1161/CIRCIMAGING.121.012468. PMID: 34610753
Theis JL, Hu JJ, Sundsbak RS, Evans JM, Bamlet WR, Qureshi MY, O'Leary PW, Olson TM
Circ Genom Precis Med 2021 Feb;14(1):e003126. Epub 2020 Dec 16 doi: 10.1161/CIRCGEN.120.003126. PMID: 33325730
Roeleveld PP, Axelrod DM, Klugman D, Jones MB, Chanani NK, Rossano JW, Costello JM
Cardiol Young 2018 Nov;28(11):1275-1288. Epub 2018 Sep 18 doi: 10.1017/S104795111800135X. PMID: 30223915
Feinstein JA, Benson DW, Dubin AM, Cohen MS, Maxey DM, Mahle WT, Pahl E, Villafañe J, Bhatt AB, Peng LF, Johnson BA, Marsden AL, Daniels CJ, Rudd NA, Caldarone CA, Mussatto KA, Morales DL, Ivy DD, Gaynor JW, Tweddell JS, Deal BJ, Furck AK, Rosenthal GL, Ohye RG, Ghanayem NS, Cheatham JP, Tworetzky W, Martin GR
J Am Coll Cardiol 2012 Jan 3;59(1 Suppl):S1-42. doi: 10.1016/j.jacc.2011.09.022. PMID: 22192720Free PMC Article
Connor JA, Thiagarajan R
Orphanet J Rare Dis 2007 May 11;2:23. doi: 10.1186/1750-1172-2-23. PMID: 17498282Free PMC Article

Therapy

Pickard SS, Wong JB, Bucholz EM, Newburger JW, Tworetzky W, Lafranchi T, Benson CB, Wilkins-Haug LE, Porras D, Callahan R, Friedman KG
Circ Cardiovasc Qual Outcomes 2020 Apr;13(4):e006127. Epub 2020 Apr 7 doi: 10.1161/CIRCOUTCOMES.119.006127. PMID: 32252549Free PMC Article
Friedman KG, Tworetzky W
Arch Cardiovasc Dis 2020 Feb;113(2):121-128. Epub 2020 Feb 26 doi: 10.1016/j.acvd.2019.06.007. PMID: 32113817
Liu Y, Chen S, Zühlke L, Black GC, Choy MK, Li N, Keavney BD
Int J Epidemiol 2019 Apr 1;48(2):455-463. doi: 10.1093/ije/dyz009. PMID: 30783674Free PMC Article
Thakur V, Munk N, Mertens L, Nield LE
Prenat Diagn 2016 Sep;36(9):854-63. Epub 2016 Aug 21 doi: 10.1002/pd.4873. PMID: 27416335
Gutgesell HP, Lim DS
Curr Opin Cardiol 2007 Mar;22(2):55-9. doi: 10.1097/HCO.0b013e328014d945. PMID: 17284980

Prognosis

Geoffrion TR, Fuller SM
World J Pediatr Congenit Heart Surg 2022 Sep;13(5):593-599. doi: 10.1177/21501351221111390. PMID: 36053102
Rickers C, Wegner P, Silberbach M, Madriago E, Gabbert DD, Kheradvar A, Voges I, Scheewe J, Attmann T, Jerosch-Herold M, Kramer HH
Circ Cardiovasc Imaging 2021 Oct;14(10):e012468. Epub 2021 Oct 6 doi: 10.1161/CIRCIMAGING.121.012468. PMID: 34610753
Roeleveld PP, Axelrod DM, Klugman D, Jones MB, Chanani NK, Rossano JW, Costello JM
Cardiol Young 2018 Nov;28(11):1275-1288. Epub 2018 Sep 18 doi: 10.1017/S104795111800135X. PMID: 30223915
Feinstein JA, Benson DW, Dubin AM, Cohen MS, Maxey DM, Mahle WT, Pahl E, Villafañe J, Bhatt AB, Peng LF, Johnson BA, Marsden AL, Daniels CJ, Rudd NA, Caldarone CA, Mussatto KA, Morales DL, Ivy DD, Gaynor JW, Tweddell JS, Deal BJ, Furck AK, Rosenthal GL, Ohye RG, Ghanayem NS, Cheatham JP, Tworetzky W, Martin GR
J Am Coll Cardiol 2012 Jan 3;59(1 Suppl):S1-42. doi: 10.1016/j.jacc.2011.09.022. PMID: 22192720Free PMC Article
Connor JA, Thiagarajan R
Orphanet J Rare Dis 2007 May 11;2:23. doi: 10.1186/1750-1172-2-23. PMID: 17498282Free PMC Article

Clinical prediction guides

Sharma VJ, Carlson L, Esch J, Gopal M, Gauvreau K, Wamala I, Muter A, Porras D, Nathan M
Cardiol Young 2023 Dec;33(12):2589-2596. Epub 2023 Apr 17 doi: 10.1017/S1047951123000665. PMID: 37066762
Hill MC, Kadow ZA, Long H, Morikawa Y, Martin TJ, Birks EJ, Campbell KS, Nerbonne J, Lavine K, Wadhwa L, Wang J, Turaga D, Adachi I, Martin JF
Nature 2022 Aug;608(7921):181-191. Epub 2022 Jun 22 doi: 10.1038/s41586-022-04989-3. PMID: 35732239Free PMC Article
Jadczak A, Respondek-Liberska M, Sokołowski Ł, Chrzanowski J, Rizzo G, Araujo Júnior E, Bravo-Valenzuela NJ, Axt-Fliedner R, Słodki M; International Prenatal Cardiology Collaboration Group
J Matern Fetal Neonatal Med 2022 Jan;35(2):291-298. Epub 2020 Jan 27 doi: 10.1080/14767058.2020.1716717. PMID: 31986935
Parker LE, Landstrom AP
J Am Heart Assoc 2021 Jan 19;10(2):e019006. Epub 2021 Jan 12 doi: 10.1161/JAHA.120.019006. PMID: 33432820Free PMC Article
Theis JL, Hu JJ, Sundsbak RS, Evans JM, Bamlet WR, Qureshi MY, O'Leary PW, Olson TM
Circ Genom Precis Med 2021 Feb;14(1):e003126. Epub 2020 Dec 16 doi: 10.1161/CIRCGEN.120.003126. PMID: 33325730

Recent systematic reviews

Kanade R, Shazly S, Ruano R
J Matern Fetal Neonatal Med 2022 Nov;35(21):4184-4189. Epub 2020 Nov 18 doi: 10.1080/14767058.2020.1849091. PMID: 33207977
Siciliano RE, Prussien KV, Lee CA, Patel NJ, Murphy LK, Compas BE, Jordan LC
J Pediatr Psychol 2019 Sep 1;44(8):937-947. doi: 10.1093/jpepsy/jsz021. PMID: 31069392Free PMC Article
Liu Y, Chen S, Zühlke L, Black GC, Choy MK, Li N, Keavney BD
Int J Epidemiol 2019 Apr 1;48(2):455-463. doi: 10.1093/ije/dyz009. PMID: 30783674Free PMC Article
Thakur V, Munk N, Mertens L, Nield LE
Prenat Diagn 2016 Sep;36(9):854-63. Epub 2016 Aug 21 doi: 10.1002/pd.4873. PMID: 27416335
Khalil A, Suff N, Thilaganathan B, Hurrell A, Cooper D, Carvalho JS
Ultrasound Obstet Gynecol 2014 Jan;43(1):14-24. Epub 2013 Dec 10 doi: 10.1002/uog.12526. PMID: 23737029

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