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Mitral atresia disorder

MedGen UID:
91035
Concept ID:
C0344760
Congenital Abnormality
Synonym: Mitral atresia
SNOMED CT: Mitral atresia (23063005); MA - Mitral atresia (23063005); Congenital atresia of mitral valve (23063005)
 
HPO: HP:0011560
Monarch Initiative: MONDO:0015249
Orphanet: ORPHA1205

Definition

A congenital defect with failure to open of the mitral valve orifice. [from HPO]

Conditions with this feature

Heterotaxy, visceral, 1, X-linked
MedGen UID:
336609
Concept ID:
C1844020
Disease or Syndrome
Heterotaxy Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart Defects Congenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). Reviews Obler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral Heterotaxy See also HTX2 (605376), caused by mutation in the CFC1 gene (605194) on chromosome 2q21; HTX3 (606325), which maps to chromosome 6q21; HTX4 (613751), caused by mutation in the ACVR2B gene (602730) on chromosome 3p22; HTX5 (270100), caused by mutation in the NODAL gene (601265) on chromosome 10q22; HTX6 (614779), caused by mutation in the CCDC11 gene (614759) on chromosome 18q21; HTX7 (616749), caused by mutation in the MMP21 gene (608416) on chromosome 10q26; HTX8 (617205), caused by mutation in the PKD1L1 gene (609721) on chromosome 7p12; HTX9 (618948), caused by mutation in the MNS1 gene (610766) on chromosome 15q21; HTX10 (619607), caused by mutation in the CFAP52 gene (609804) on chromosome 17p13; HTX11 (619608), caused by mutation in the CFAP45 gene (605152) on chromosome 1q23; and HTX12 (619702), caused by mutation in the CIROP gene (619703) on chromosome 14q11. Genetic Heterogeneity of Multiple Types of Congenital Heart Defects An X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (614980) is caused by mutation in the TAB2 gene (605101) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3; 614954) has been mapped to chromosome 9q31. CHTD4 (615779) is caused by mutation in the NR2F2 gene (107773) on chromosome 15q26. CHTD5 (617912) is caused by mutation in the GATA5 gene (611496) on chromosome 20q13. CHTD6 (613854) is caused by mutation in the GDF1 gene (602880) on chromosome 19p13. CHTD7 (618780) is caused by mutation in the FLT4 gene (136352) on chromosome 5q35. CHTD8 (619657) is caused by mutation in the SMAD2 gene (601366) on chromosome 18q21. CHTD9 (620294) is caused by mutation in the PLXND1 gene (604282) on chromosome 3q22.
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).
Intellectual disability, autosomal dominant 16
MedGen UID:
766163
Concept ID:
C3553249
Disease or Syndrome
Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes (summary by Kosho et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).
Aortic valve disease 1
MedGen UID:
854610
Concept ID:
C3887892
Disease or Syndrome
An autosomal dominant form of bicuspid aortic valve caused by mutation(s) in the NOTCH1 gene, encoding neurogenic locus notch homolog protein 1.
Heterotaxy, visceral, 7, autosomal
MedGen UID:
902629
Concept ID:
C4225217
Disease or Syndrome
Autosomal visceral heterotaxy-7 is an autosomal recessive developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs. The phenotype is variable (summary by Guimier et al., 2015). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).
Cardiac, facial, and digital anomalies with developmental delay
MedGen UID:
1648330
Concept ID:
C4748484
Disease or Syndrome
CAFDADD is a multisystemic developmental disorder with variable cardiac and digital anomalies and facial dysmorphism. Some patients may have seizures and ocular/aural abnormalities (Tokita et al., 2018).
Neurodevelopmental disorder with hypotonia and dysmorphic facies
MedGen UID:
1794184
Concept ID:
C5561974
Disease or Syndrome
Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022).
Congenital heart defects, multiple types, 9
MedGen UID:
1841003
Concept ID:
C5830367
Congenital Abnormality
Multiple types of congenital heart defects-9 (CHTD9) is characterized by common arterial trunk (truncus arteriosus communis) in most patients, associated with other cardiac defects, including tetralogy of Fallot, interrupted aortic arch, right aortic arch, ventricular hypoplasia, and hypoplastic left heart, as well as other vascular and valvular anomalies (Ta-Shma et al., 2013; Guimier et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of multiple types of congenital heart defects, see CHTD1 (see 306955).

Professional guidelines

PubMed

Pandian NG, Kim JK, Arias-Godinez JA, Marx GR, Michelena HI, Chander Mohan J, Ogunyankin KO, Ronderos RE, Sade LE, Sadeghpour A, Sengupta SP, Siegel RJ, Shu X, Soesanto AM, Sugeng L, Venkateshvaran A, Campos Vieira ML, Little SH
J Am Soc Echocardiogr 2023 Jan;36(1):3-28. Epub 2022 Nov 23 doi: 10.1016/j.echo.2022.10.009. PMID: 36428195
Santoro F, Mallardi A, Leopizzi A, Vitale E, Stiermaier T, Trambaiolo P, Di Biase M, Eitel I, Brunetti ND
Heart Fail Rev 2022 Mar;27(2):545-558. Epub 2022 Jan 18 doi: 10.1007/s10741-021-10205-7. PMID: 35040000
Paterick TE, Humphries JA, Ammar KA, Jan MF, Loberg R, Bush M, Khandheria BK, Tajik AJ
Am J Med 2013 Aug;126(8):670-8. Epub 2013 Jun 22 doi: 10.1016/j.amjmed.2013.01.029. PMID: 23800581

Recent clinical studies

Etiology

Cooper RM, Raphael CE, Liebregts M, Anavekar NS, Veselka J
Can J Cardiol 2017 Oct;33(10):1254-1265. Epub 2017 Jul 20 doi: 10.1016/j.cjca.2017.07.007. PMID: 28941606
Stulak JM, Mora BN, Said SM, Schaff HV, Dearani JA
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2016;19(1):82-9. doi: 10.1053/j.pcsu.2015.12.003. PMID: 27060049
Siu SC, Silversides CK
J Am Coll Cardiol 2010 Jun 22;55(25):2789-800. doi: 10.1016/j.jacc.2009.12.068. PMID: 20579534
Mantle D, Wilkins RM, Preedy V
Med Hypotheses 2005;64(2):279-83. doi: 10.1016/j.mehy.2004.07.023. PMID: 15607555
Rothrock JF, Walicke P, Swenson MR, Lyden PD, Logan WR
Arch Neurol 1988 Jan;45(1):63-7. doi: 10.1001/archneur.1988.00520250069023. PMID: 3337678

Diagnosis

Hoit BD
Curr Opin Cardiol 2020 Sep;35(5):474-481. doi: 10.1097/HCO.0000000000000761. PMID: 32649349
Bennett S, Thamman R, Griffiths T, Oxley C, Khan JN, Phan T, Patwala A, Heatlie G, Kwok CS
Echocardiography 2019 Aug;36(8):1549-1558. Epub 2019 Aug 5 doi: 10.1111/echo.14437. PMID: 31385360
Wright CD
Thorac Surg Clin 2017 May;27(2):133-137. doi: 10.1016/j.thorsurg.2017.01.006. PMID: 28363367
Hensley N, Dietrich J, Nyhan D, Mitter N, Yee MS, Brady M
Anesth Analg 2015 Mar;120(3):554-569. doi: 10.1213/ANE.0000000000000538. PMID: 25695573
Siu SC, Silversides CK
J Am Coll Cardiol 2010 Jun 22;55(25):2789-800. doi: 10.1016/j.jacc.2009.12.068. PMID: 20579534

Therapy

Varga P, Balajthy A, Biró E, Bíró B, Reiger Z, Szikszay E, Mogyorósy G, Káposzta R, Szabó T
BMC Pediatr 2023 Apr 21;23(1):190. doi: 10.1186/s12887-023-03997-0. PMID: 37085781Free PMC Article
Doldi P, Stolz L, Orban M, Karam N, Praz F, Kalbacher D, Lubos E, Braun D, Adamo M, Giannini C, Melica B, Näbauer M, Higuchi S, Wild M, Neuss M, Butter C, Kassar M, Petrescu A, Pfister R, Iliadis C, Unterhuber M, Thiele H, Baldus S, von Bardeleben RS, Schofer N, Hagl C, Petronio AS, Massberg S, Windecker S, Lurz P, Metra M, Hausleiter J
JACC Cardiovasc Imaging 2022 Nov;15(11):1843-1851. Epub 2022 Jul 13 doi: 10.1016/j.jcmg.2022.05.009. PMID: 35842361
Stulak JM, Mora BN, Said SM, Schaff HV, Dearani JA
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2016;19(1):82-9. doi: 10.1053/j.pcsu.2015.12.003. PMID: 27060049
Mantle D, Wilkins RM, Preedy V
Med Hypotheses 2005;64(2):279-83. doi: 10.1016/j.mehy.2004.07.023. PMID: 15607555
Khandheria BK, Seward JB, Tajik AJ
Mayo Clin Proc 1994 Sep;69(9):856-63. doi: 10.1016/s0025-6196(12)61788-1. PMID: 8065188

Prognosis

Hoit BD
Curr Opin Cardiol 2020 Sep;35(5):474-481. doi: 10.1097/HCO.0000000000000761. PMID: 32649349
Bennett S, Thamman R, Griffiths T, Oxley C, Khan JN, Phan T, Patwala A, Heatlie G, Kwok CS
Echocardiography 2019 Aug;36(8):1549-1558. Epub 2019 Aug 5 doi: 10.1111/echo.14437. PMID: 31385360
Hensley N, Dietrich J, Nyhan D, Mitter N, Yee MS, Brady M
Anesth Analg 2015 Mar;120(3):554-569. doi: 10.1213/ANE.0000000000000538. PMID: 25695573
Siu SC, Silversides CK
J Am Coll Cardiol 2010 Jun 22;55(25):2789-800. doi: 10.1016/j.jacc.2009.12.068. PMID: 20579534
Rothrock JF, Walicke P, Swenson MR, Lyden PD, Logan WR
Arch Neurol 1988 Jan;45(1):63-7. doi: 10.1001/archneur.1988.00520250069023. PMID: 3337678

Clinical prediction guides

Varga P, Balajthy A, Biró E, Bíró B, Reiger Z, Szikszay E, Mogyorósy G, Káposzta R, Szabó T
BMC Pediatr 2023 Apr 21;23(1):190. doi: 10.1186/s12887-023-03997-0. PMID: 37085781Free PMC Article
Doldi P, Stolz L, Orban M, Karam N, Praz F, Kalbacher D, Lubos E, Braun D, Adamo M, Giannini C, Melica B, Näbauer M, Higuchi S, Wild M, Neuss M, Butter C, Kassar M, Petrescu A, Pfister R, Iliadis C, Unterhuber M, Thiele H, Baldus S, von Bardeleben RS, Schofer N, Hagl C, Petronio AS, Massberg S, Windecker S, Lurz P, Metra M, Hausleiter J
JACC Cardiovasc Imaging 2022 Nov;15(11):1843-1851. Epub 2022 Jul 13 doi: 10.1016/j.jcmg.2022.05.009. PMID: 35842361
Bennett S, Thamman R, Griffiths T, Oxley C, Khan JN, Phan T, Patwala A, Heatlie G, Kwok CS
Echocardiography 2019 Aug;36(8):1549-1558. Epub 2019 Aug 5 doi: 10.1111/echo.14437. PMID: 31385360
Hensley N, Dietrich J, Nyhan D, Mitter N, Yee MS, Brady M
Anesth Analg 2015 Mar;120(3):554-569. doi: 10.1213/ANE.0000000000000538. PMID: 25695573
Siegel RJ, Shah PK, Fishbein MC
Circulation 1984 Aug;70(2):165-9. doi: 10.1161/01.cir.70.2.165. PMID: 6733871

Recent systematic reviews

Ghauri H, Iqbal R, Ahmed S, Ashraf A, Khan MSQ, Malik J, Zaidi SMJ, Almas T
Pacing Clin Electrophysiol 2022 May;45(5):681-687. Epub 2022 Apr 9 doi: 10.1111/pace.14484. PMID: 35304920
Bennett S, Thamman R, Griffiths T, Oxley C, Khan JN, Phan T, Patwala A, Heatlie G, Kwok CS
Echocardiography 2019 Aug;36(8):1549-1558. Epub 2019 Aug 5 doi: 10.1111/echo.14437. PMID: 31385360
Nalliah CJ, Mahajan R, Elliott AD, Haqqani H, Lau DH, Vohra JK, Morton JB, Semsarian C, Marwick T, Kalman JM, Sanders P
Heart 2019 Jan;105(2):144-151. Epub 2018 Sep 21 doi: 10.1136/heartjnl-2017-312932. PMID: 30242141
Büchi A, Hoffmann M, Zbinden S, Atkinson A, Sendi P
Swiss Med Wkly 2018 Nov 5;148:w14675. Epub 2018 Nov 15 doi: 10.4414/smw.2018.14675. PMID: 30440064
Ungprasert P, Wannarong T, Panichsillapakit T, Cheungpasitporn W, Thongprayoon C, Ahmed S, Raddatz DA
Int J Cardiol 2014 Feb 15;171(3):326-30. Epub 2013 Dec 29 doi: 10.1016/j.ijcard.2013.12.079. PMID: 24433611

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