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Abnormal mitral valve morphology

MedGen UID:
871272
Concept ID:
C4025759
Anatomical Abnormality
Synonym: Abnormality of the mitral valve
 
HPO: HP:0001633

Definition

Any structural anomaly of the mitral valve. [from HPO]

Conditions with this feature

LEOPARD syndrome 3
MedGen UID:
462321
Concept ID:
C3150971
Disease or Syndrome
Noonan syndrome with multiple lentigines (NSML) is a condition in which the cardinal features consist of lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features including widely spaced eyes and ptosis. Multiple lentigines present as dispersed flat, black-brown macules, mostly on the face, neck, and upper part of the trunk with sparing of the mucosa. In general, lentigines do not appear until age four to five years but then increase to the thousands by puberty. Some individuals with NSML do not exhibit lentigines. Approximately 85% of affected individuals have heart defects, including hypertrophic cardiomyopathy (typically appearing during infancy and sometimes progressive) and pulmonary valve stenosis. Postnatal growth restriction resulting in short stature occurs in fewer than 50% of affected persons, although most affected individuals have a height that is less than the 25th centile for age. Sensorineural hearing deficits, present in approximately 20% of affected individuals, are poorly characterized. Intellectual disability, typically mild, is observed in approximately 30% of persons with NSML.

Professional guidelines

PubMed

Boudoulas KD, Pitsis AA, Mazzaferri EL, Gumina RJ, Triposkiadis F, Boudoulas H
Prog Cardiovasc Dis 2020 May-Jun;63(3):308-326. Epub 2020 Mar 19 doi: 10.1016/j.pcad.2020.03.004. PMID: 32201287
Dominguez F, González-López E, Padron-Barthe L, Cavero MA, Garcia-Pavia P
Heart 2018 Feb;104(3):261-273. Epub 2017 Sep 19 doi: 10.1136/heartjnl-2016-310559. PMID: 28928240
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

Yetkin E, Cuglan B, Turhan H, Yalta K
Cardiovasc Pathol 2021 Jan-Feb;50:107277. Epub 2020 Aug 31 doi: 10.1016/j.carpath.2020.107277. PMID: 32882373
Boudoulas KD, Pitsis AA, Mazzaferri EL, Gumina RJ, Triposkiadis F, Boudoulas H
Prog Cardiovasc Dis 2020 May-Jun;63(3):308-326. Epub 2020 Mar 19 doi: 10.1016/j.pcad.2020.03.004. PMID: 32201287
Parwani P, Avierinos JF, Levine RA, Delling FN
Prog Cardiovasc Dis 2017 Nov-Dec;60(3):361-369. Epub 2017 Nov 6 doi: 10.1016/j.pcad.2017.10.007. PMID: 29122631Free PMC Article
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
Ahmed MI, McGiffin DC, O'Rourke RA, Dell'Italia LJ
Curr Probl Cardiol 2009 Mar;34(3):93-136. doi: 10.1016/j.cpcardiol.2008.11.002. PMID: 19232244

Diagnosis

Malcolmson J, Shipolini A, Mohiddin S, Savvatis K
Curr Opin Cardiol 2023 Sep 1;38(5):415-423. Epub 2023 Jul 14 doi: 10.1097/HCO.0000000000001067. PMID: 37477154
Yetkin E, Cuglan B, Turhan H, Yalta K
Cardiovasc Pathol 2021 Jan-Feb;50:107277. Epub 2020 Aug 31 doi: 10.1016/j.carpath.2020.107277. PMID: 32882373
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
Parwani P, Avierinos JF, Levine RA, Delling FN
Prog Cardiovasc Dis 2017 Nov-Dec;60(3):361-369. Epub 2017 Nov 6 doi: 10.1016/j.pcad.2017.10.007. PMID: 29122631Free PMC Article
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

Malcolmson J, Shipolini A, Mohiddin S, Savvatis K
Curr Opin Cardiol 2023 Sep 1;38(5):415-423. Epub 2023 Jul 14 doi: 10.1097/HCO.0000000000001067. PMID: 37477154
Xiong TY, Ali WB, Feng Y, Hayashida K, Jilaihawi H, Latib A, Lee MK, Leon MB, Makkar RR, Modine T, Naber C, Peng Y, Piazza N, Reardon MJ, Redwood S, Seth A, Sondergaard L, Tay E, Tchetche D, Yin WH, Chen M, Prendergast B, Mylotte D
Nat Rev Cardiol 2023 Jan;20(1):52-67. Epub 2022 Jun 20 doi: 10.1038/s41569-022-00734-5. PMID: 35726019
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
Ahmed MI, McGiffin DC, O'Rourke RA, Dell'Italia LJ
Curr Probl Cardiol 2009 Mar;34(3):93-136. doi: 10.1016/j.cpcardiol.2008.11.002. PMID: 19232244
Roberts WC
Am J Cardiol 1983 Mar 15;51(6):1005-28. doi: 10.1016/s0002-9149(83)80181-7. PMID: 6338691

Prognosis

Yetkin E, Cuglan B, Turhan H, Yalta K
Cardiovasc Pathol 2021 Jan-Feb;50:107277. Epub 2020 Aug 31 doi: 10.1016/j.carpath.2020.107277. PMID: 32882373
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
Parwani P, Avierinos JF, Levine RA, Delling FN
Prog Cardiovasc Dis 2017 Nov-Dec;60(3):361-369. Epub 2017 Nov 6 doi: 10.1016/j.pcad.2017.10.007. PMID: 29122631Free PMC Article
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
Pedrazzini GB, Faletra F, Vassalli G, Demertzis S, Moccetti T
Swiss Med Wkly 2010 Jan 23;140(3-4):36-43. doi: 10.4414/smw.2010.12893. PMID: 19950042

Clinical prediction guides

Xiong TY, Ali WB, Feng Y, Hayashida K, Jilaihawi H, Latib A, Lee MK, Leon MB, Makkar RR, Modine T, Naber C, Peng Y, Piazza N, Reardon MJ, Redwood S, Seth A, Sondergaard L, Tay E, Tchetche D, Yin WH, Chen M, Prendergast B, Mylotte D
Nat Rev Cardiol 2023 Jan;20(1):52-67. Epub 2022 Jun 20 doi: 10.1038/s41569-022-00734-5. PMID: 35726019
Faletra FF, Leo LA, Paiocchi VL, Schlossbauer SA, Pavon AG, Ho SY, Maisano F
J Am Soc Echocardiogr 2022 Feb;35(2):176-186. Epub 2021 Sep 8 doi: 10.1016/j.echo.2021.09.002. PMID: 34508838
Yetkin E, Cuglan B, Turhan H, Yalta K
Cardiovasc Pathol 2021 Jan-Feb;50:107277. Epub 2020 Aug 31 doi: 10.1016/j.carpath.2020.107277. PMID: 32882373
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
Beigel R, Wunderlich NC, Ho SY, Arsanjani R, Siegel RJ
JACC Cardiovasc Imaging 2014 Dec;7(12):1251-65. doi: 10.1016/j.jcmg.2014.08.009. PMID: 25496544

Recent systematic reviews

Ghosh S, Halder V, Mittal A, Mishra A, Haranal M, Aggarwal P, Singh H, Barwad P, Naganur S, Thingnam SKS
Cardiol Young 2023 Sep;33(9):1506-1516. Epub 2023 Jul 31 doi: 10.1017/S1047951123002664. PMID: 37518865
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
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
Gasser S, Reichenspurner H, Girdauskas E
BMC Cardiovasc Disord 2018 Feb 27;18(1):41. doi: 10.1186/s12872-018-0755-y. PMID: 29486707Free PMC Article
Bouma W, Klinkenberg TJ, van der Horst IC, Wijdh-den Hamer IJ, Erasmus ME, Bijl M, Suurmeijer AJ, Zijlstra F, Mariani MA
J Cardiothorac Surg 2010 Mar 23;5:13. doi: 10.1186/1749-8090-5-13. PMID: 20331896Free PMC Article

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