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Abnormal mitral valve physiology

MedGen UID:
1624687
•Concept ID:
C4531094
•
Anatomical Abnormality
HPO: HP:0031481

Definition

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

Professional guidelines

PubMed

The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
van Woerden GM, Senden R, de Konink C, Trezza RA, Baban A, Bassetti JA, van Bever Y, Bird LM, van Bon BW, Brooks AS, Guan Q, Klee EW, Marcelis C, Rosado JM, Schimmenti LA, Shikany AR, Terhal PA, Nicole Weaver K, Wessels MW, van Wieringen H, Hurst AC, Gooch CF, Steindl K, Joset P, Rauch A, Tartaglia M, Niceta M, Elgersma Y, Demirdas S
Hum Mutat 2022 Oct;43(10):1377-1395. Epub 2022 Jul 29 doi: 10.1002/humu.24425. PMID: 35730652Free PMC Article
Echocardiography in the Diagnosis and Management of Hypertrophic Cardiomyopathy.
Rakowski H, Hoss S, Williams LK
Cardiol Clin 2019 Feb;37(1):11-26. doi: 10.1016/j.ccl.2018.09.001. PMID: 30447711
Role of echocardiography in the diagnosis and management of hypertrophic cardiomyopathy.
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

Recent clinical studies

Etiology

Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunction.
Zhou N, Zhao Q, Li R, Cheng R, Wu Q, Cheng J, Chen Y
J Med Genet 2024 Jan 19;61(2):125-131. doi: 10.1136/jmg-2023-109278. PMID: 37399314
The role of echocardiography for diagnosis and prognostic stratification in hypertrophic cardiomyopathy.
Mandeş L, Roşca M, Ciupercă D, Popescu BA
J Echocardiogr 2020 Sep;18(3):137-148. Epub 2020 Apr 16 doi: 10.1007/s12574-020-00467-9. PMID: 32301048Free PMC Article
Proportionate and Disproportionate Functional Mitral Regurgitation: A New Conceptual Framework That Reconciles the Results of the MITRA-FR and COAPT Trials.
Grayburn PA, Sannino A, Packer M
JACC Cardiovasc Imaging 2019 Feb;12(2):353-362. Epub 2018 Dec 12 doi: 10.1016/j.jcmg.2018.11.006. PMID: 30553663
Mitral Annulus Calcification.
Abramowitz Y, Jilaihawi H, Chakravarty T, Mack MJ, Makkar RR
J Am Coll Cardiol 2015 Oct 27;66(17):1934-41. doi: 10.1016/j.jacc.2015.08.872. PMID: 26493666
Mitral regurgitation.
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

Proportionate and Disproportionate Functional Mitral Regurgitation: A New Conceptual Framework That Reconciles the Results of the MITRA-FR and COAPT Trials.
Grayburn PA, Sannino A, Packer M
JACC Cardiovasc Imaging 2019 Feb;12(2):353-362. Epub 2018 Dec 12 doi: 10.1016/j.jcmg.2018.11.006. PMID: 30553663
Newborn in cardiogenic shock.
Wagner F, Gebauer RA, Paech C
Heart 2018 Mar;104(6):467. Epub 2017 Dec 20 doi: 10.1136/heartjnl-2017-311974. PMID: 29263026
Role of echocardiography in the diagnosis and management of hypertrophic cardiomyopathy.
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
Parachute Mitral Valve.
Vistarini N, Belaidi M, Desjardins G, Pellerin M
Can J Cardiol 2016 Oct;32(10):1261.e5-1261.e6. Epub 2015 Nov 5 doi: 10.1016/j.cjca.2015.10.025. PMID: 27568105
Echocardiography.
McDonald IG
Med J Aust 1972 Dec 30;2(27):1488-90. doi: 10.5694/j.1326-5377.1972.tb92997.x. PMID: 4570153

Therapy

Proportionate and Disproportionate Functional Mitral Regurgitation: A New Conceptual Framework That Reconciles the Results of the MITRA-FR and COAPT Trials.
Grayburn PA, Sannino A, Packer M
JACC Cardiovasc Imaging 2019 Feb;12(2):353-362. Epub 2018 Dec 12 doi: 10.1016/j.jcmg.2018.11.006. PMID: 30553663
Antithrombotic and thrombolytic therapy for valvular disease: Antithrombotic Therapy and Prevention of Thrombosis, 9th ed: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines.
Whitlock RP, Sun JC, Fremes SE, Rubens FD, Teoh KH
Chest 2012 Feb;141(2 Suppl):e576S-e600S. doi: 10.1378/chest.11-2305. PMID: 22315272Free PMC Article
Mitral regurgitation.
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
Idiopathic ventricular tachycardia.
Altemose GT, Buxton AE
Annu Rev Med 1999;50:159-77. doi: 10.1146/annurev.med.50.1.159. PMID: 10073270
Vasodilator therapy.
Parmley WW, Chatterjee K
Curr Probl Cardiol 1978 Mar;2(12):23-75. doi: 10.1016/0146-2806(78)90020-8. PMID: 348403

Prognosis

Atrial functional mitral regurgitation.
Hoit BD
Curr Opin Cardiol 2020 Sep;35(5):474-481. doi: 10.1097/HCO.0000000000000761. PMID: 32649349
Tale of 2 Orifices.
Vainrib AF, Loulmet DF, Williams MR, Saric M
Circ Cardiovasc Imaging 2019 Dec;12(1):e008372. doi: 10.1161/CIRCIMAGING.118.008372. PMID: 30636514
Proportionate and Disproportionate Functional Mitral Regurgitation: A New Conceptual Framework That Reconciles the Results of the MITRA-FR and COAPT Trials.
Grayburn PA, Sannino A, Packer M
JACC Cardiovasc Imaging 2019 Feb;12(2):353-362. Epub 2018 Dec 12 doi: 10.1016/j.jcmg.2018.11.006. PMID: 30553663
Aortopathies: etiologies, genetics, differential diagnosis, prognosis and management.
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
Pitfalls in repair of conotruncal anomalies.
Raisky O, Vouhé PR
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2013;16(1):7-12. doi: 10.1053/j.pcsu.2013.02.001. PMID: 23561812

Clinical prediction guides

Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunction.
Zhou N, Zhao Q, Li R, Cheng R, Wu Q, Cheng J, Chen Y
J Med Genet 2024 Jan 19;61(2):125-131. doi: 10.1136/jmg-2023-109278. PMID: 37399314
Accessory mitral valve tissue: anatomical and clinical perspectives.
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
Tale of 2 Orifices.
Vainrib AF, Loulmet DF, Williams MR, Saric M
Circ Cardiovasc Imaging 2019 Dec;12(1):e008372. doi: 10.1161/CIRCIMAGING.118.008372. PMID: 30636514
Proportionate and Disproportionate Functional Mitral Regurgitation: A New Conceptual Framework That Reconciles the Results of the MITRA-FR and COAPT Trials.
Grayburn PA, Sannino A, Packer M
JACC Cardiovasc Imaging 2019 Feb;12(2):353-362. Epub 2018 Dec 12 doi: 10.1016/j.jcmg.2018.11.006. PMID: 30553663
Atlantis Massif.
Shah RG, Kirsch J
Int J Cardiovasc Imaging 2012 Aug;28(6):1279-80. Epub 2011 Jan 8 doi: 10.1007/s10554-010-9776-z. PMID: 21222038

Recent systematic reviews

Phenotypic Spectrum of Subclinical Sarcomere-Related Hypertrophic Cardiomyopathy and Transition to Overt Disease.
Topriceanu CC, Moon JC, Axelsson Raja A, Captur G, Ho CY
Circ Genom Precis Med 2024 Aug;17(4):e004580. Epub 2024 Jun 24 doi: 10.1161/CIRCGEN.124.004580. PMID: 38910555Free PMC Article
The relationship between mitral valve prolapse and thoracic skeletal abnormalities in clinical practice: a systematic review.
Sonaglioni A, Nicolosi GL, Lombardo M
J Cardiovasc Med (Hagerstown) 2024 May 1;25(5):353-363. Epub 2024 Mar 19 doi: 10.2459/JCM.0000000000001614. PMID: 38526955
Clinical features and complications of Loeys-Dietz syndrome: A systematic review.
Gouda P, Kay R, Habib M, Aziz A, Aziza E, Welsh R
Int J Cardiol 2022 Sep 1;362:158-167. Epub 2022 Jun 1 doi: 10.1016/j.ijcard.2022.05.065. PMID: 35662564
Mitral valve prolapse and sudden cardiac death: a systematic review and meta-analysis.
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
Risk Factors for Coarctation of the Aorta on Prenatal Ultrasound: A Systematic Review and Meta-Analysis.
Familiari A, Morlando M, Khalil A, Sonesson SE, Scala C, Rizzo G, Del Sordo G, Vassallo C, Elena Flacco M, Manzoli L, Lanzone A, Scambia G, Acharya G, D'Antonio F
Circulation 2017 Feb 21;135(8):772-785. Epub 2016 Dec 29 doi: 10.1161/CIRCULATIONAHA.116.024068. PMID: 28034902

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