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Aortic valve atresia

MedGen UID:
451016
Concept ID:
C0265843
Congenital Abnormality
Synonym: Aortic valve atresia (disease)
SNOMED CT: Imperforate aortic valve (51442005); Aortic valve atresia (51442005); Congenital atresia of aortic valve (51442005)
 
HPO: HP:0010883
Monarch Initiative: MONDO:0019808
Orphanet: ORPHA95448

Definition

A congenital disorder of the aortic valve in which the orifice of the valve fails to develop. [from HPO]

Conditions with this feature

Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
MedGen UID:
387801
Concept ID:
C1857355
Disease or Syndrome
Mitochondrial complex IV deficiency nuclear type 5 (MC4DN5) is an autosomal recessive severe metabolic multisystemic disorder with onset in infancy. Features include delayed psychomotor development, impaired intellectual development with speech delay, mild dysmorphic facial features, hypotonia, ataxia, and seizures. There is increased serum lactate and episodic hypoglycemia. Some patients may have cardiomyopathy, abnormal breathing, or liver abnormalities, reflecting systemic involvement. Brain imaging shows lesions in the brainstem and basal ganglia, consistent with a diagnosis of Leigh syndrome (see 256000). Affected individuals tend to have episodic metabolic and/or neurologic crises in early childhood, which often lead to early death (summary by Debray et al., 2011). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.
Hypoplastic left heart syndrome 2
MedGen UID:
482425
Concept ID:
C3280795
Disease or 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). For a discussion of genetic heterogeneity of hypoplastic left heart syndrome, see HLHS1 (241550).
Holoprosencephaly 14
MedGen UID:
1811868
Concept ID:
C5676994
Disease or Syndrome
Holoprosencephaly-14 (HPE14) is an autosomal recessive condition characterized by severe developmental delay secondary to brain malformations within the holoprosencephaly spectrum (Drissi et al., 2022). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).

Professional guidelines

PubMed

Stackhouse KA, McCrindle BW, Blackstone EH, Rajeswaran J, Kirklin JK, Bailey LL, Jacobs ML, Tchervenkov CI, Jacobs JP, Pettersson GB; Congenital Heart Surgeons’ Society
J Thorac Cardiovasc Surg 2020 Apr;159(4):1451-1461.e7. Epub 2019 Sep 25 doi: 10.1016/j.jtcvs.2019.08.104. PMID: 31740116

Recent clinical studies

Etiology

Wójtowicz A, Ochoda-Mazur A, Mroczek T, Huras H, Włoch A
J Ultrasound Med 2022 Aug;41(8):2087-2096. Epub 2021 Nov 29 doi: 10.1002/jum.15893. PMID: 34842288
Stackhouse KA, McCrindle BW, Blackstone EH, Rajeswaran J, Kirklin JK, Bailey LL, Jacobs ML, Tchervenkov CI, Jacobs JP, Pettersson GB; Congenital Heart Surgeons’ Society
J Thorac Cardiovasc Surg 2020 Apr;159(4):1451-1461.e7. Epub 2019 Sep 25 doi: 10.1016/j.jtcvs.2019.08.104. PMID: 31740116
Meza JM, Slieker M, Blackstone EH, Mertens L, DeCampli WM, Kirklin JK, Karimi M, Eghtesady P, Pourmoghadam K, Kim RW, Burch PT, Jacobs ML, Karamlou T, McCrindle BW; Congenital Heart Surgeons’ Society
Comput Methods Programs Biomed 2018 Oct;165:107-116. Epub 2018 Aug 20 doi: 10.1016/j.cmpb.2018.08.014. PMID: 30337065
Luteijn JM, Brown MJ, Dolk H
Hum Reprod 2014 Apr;29(4):809-23. Epub 2013 Dec 22 doi: 10.1093/humrep/det455. PMID: 24365800
Ohye RG, Kagisaki K, Lee LA, Mosca RS, Goldberg CS, Bove EL
J Thorac Cardiovasc Surg 1999 Oct;118(4):648-53. doi: 10.1016/S0022-5223(99)70010-3. PMID: 10504629

Diagnosis

Wójtowicz A, Ochoda-Mazur A, Mroczek T, Huras H, Włoch A
J Ultrasound Med 2022 Aug;41(8):2087-2096. Epub 2021 Nov 29 doi: 10.1002/jum.15893. PMID: 34842288
Sun H, Yi T, Hao X, Yan H, Wang J, Li Q, Gu X, Zhou X, Wang S, Wang X, Wan P, Han L, Chen J, Zhu H, Zhang H, He Y
Ultrasound Obstet Gynecol 2020 Aug;56(2):225-232. doi: 10.1002/uog.21883. PMID: 31633846
Aydin E, Aypar E, Oktem A, Ozyuncu O, Yurdakok M, Guvener M, Demircin M, Beksac MS
J Matern Fetal Neonatal Med 2020 Feb;33(3):368-372. Epub 2018 Jul 22 doi: 10.1080/14767058.2018.1491029. PMID: 29914284
Baker-Smith CM, Milazzo AS, Frush DP, Jaggers J, Kirby ML, Kanter RJ, Barker PC
Congenit Heart Dis 2010 May-Jun;5(3):316-20. doi: 10.1111/j.1747-0803.2009.00341.x. PMID: 20576054
Roberts WC, Perry LW, Chandra RS, Myers GE, Shapiro SR, Scott LP
Am J Cardiol 1976 Apr;37(5):753-6. doi: 10.1016/0002-9149(76)90370-2. PMID: 1266741

Therapy

Wilder TJ, McCrindle BW, Hickey EJ, Ziemer G, Tchervenkov CI, Jacobs ML, Gruber PJ, Blackstone EH, Williams WG, DeCampli WM, Caldarone CA, Pizarro C; Congenital Heart Surgeons' Society
J Thorac Cardiovasc Surg 2017 Jan;153(1):163-172.e6. Epub 2016 Aug 31 doi: 10.1016/j.jtcvs.2016.08.021. PMID: 27671550
Luteijn JM, Brown MJ, Dolk H
Hum Reprod 2014 Apr;29(4):809-23. Epub 2013 Dec 22 doi: 10.1093/humrep/det455. PMID: 24365800
Baker-Smith CM, Milazzo AS, Frush DP, Jaggers J, Kirby ML, Kanter RJ, Barker PC
Congenit Heart Dis 2010 May-Jun;5(3):316-20. doi: 10.1111/j.1747-0803.2009.00341.x. PMID: 20576054
Mahle WT, Visconti KJ, Freier MC, Kanne SM, Hamilton WG, Sharkey AM, Chinnock RE, Jenkins KJ, Isquith PK, Burns TG, Jenkins PC
Pediatrics 2006 Jan;117(1):e90-7. Epub 2005 Dec 15 doi: 10.1542/peds.2005-0575. PMID: 16361221
Ohye RG, Kagisaki K, Lee LA, Mosca RS, Goldberg CS, Bove EL
J Thorac Cardiovasc Surg 1999 Oct;118(4):648-53. doi: 10.1016/S0022-5223(99)70010-3. PMID: 10504629

Prognosis

Stackhouse KA, McCrindle BW, Blackstone EH, Rajeswaran J, Kirklin JK, Bailey LL, Jacobs ML, Tchervenkov CI, Jacobs JP, Pettersson GB; Congenital Heart Surgeons’ Society
J Thorac Cardiovasc Surg 2020 Apr;159(4):1451-1461.e7. Epub 2019 Sep 25 doi: 10.1016/j.jtcvs.2019.08.104. PMID: 31740116
Axt-Fliedner R, Tenzer A, Kawecki A, Degenhardt J, Schranz D, Valeske K, Vogel M, Kohl T, Enzensberger C
Ultraschall Med 2014 Aug;35(4):357-63. Epub 2014 May 22 doi: 10.1055/s-0034-1366361. PMID: 24854131
Baker-Smith CM, Milazzo AS, Frush DP, Jaggers J, Kirby ML, Kanter RJ, Barker PC
Congenit Heart Dis 2010 May-Jun;5(3):316-20. doi: 10.1111/j.1747-0803.2009.00341.x. PMID: 20576054
Ashburn DA, McCrindle BW, Tchervenkov CI, Jacobs ML, Lofland GK, Bove EL, Spray TL, Williams WG, Blackstone EH
J Thorac Cardiovasc Surg 2003 May;125(5):1070-82. doi: 10.1067/mtc.2003.183. PMID: 12771881
Ohye RG, Kagisaki K, Lee LA, Mosca RS, Goldberg CS, Bove EL
J Thorac Cardiovasc Surg 1999 Oct;118(4):648-53. doi: 10.1016/S0022-5223(99)70010-3. PMID: 10504629

Clinical prediction guides

Wójtowicz A, Ochoda-Mazur A, Mroczek T, Huras H, Włoch A
J Ultrasound Med 2022 Aug;41(8):2087-2096. Epub 2021 Nov 29 doi: 10.1002/jum.15893. PMID: 34842288
Stackhouse KA, McCrindle BW, Blackstone EH, Rajeswaran J, Kirklin JK, Bailey LL, Jacobs ML, Tchervenkov CI, Jacobs JP, Pettersson GB; Congenital Heart Surgeons’ Society
J Thorac Cardiovasc Surg 2020 Apr;159(4):1451-1461.e7. Epub 2019 Sep 25 doi: 10.1016/j.jtcvs.2019.08.104. PMID: 31740116
Luteijn JM, Brown MJ, Dolk H
Hum Reprod 2014 Apr;29(4):809-23. Epub 2013 Dec 22 doi: 10.1093/humrep/det455. PMID: 24365800
Ohye RG, Kagisaki K, Lee LA, Mosca RS, Goldberg CS, Bove EL
J Thorac Cardiovasc Surg 1999 Oct;118(4):648-53. doi: 10.1016/S0022-5223(99)70010-3. PMID: 10504629
Freedom RM, Dische MR, Rowe RD
Am Heart J 1977 Dec;94(6):689-98. doi: 10.1016/s0002-8703(77)80208-1. PMID: 920578

Recent systematic reviews

Luteijn JM, Brown MJ, Dolk H
Hum Reprod 2014 Apr;29(4):809-23. Epub 2013 Dec 22 doi: 10.1093/humrep/det455. PMID: 24365800

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