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Abnormal heart valve physiology

MedGen UID:
1632330
•Concept ID:
C4703465
•
Disease or Syndrome
HPO: HP:0031653

Definition

Any functional abnormality of a cardiac valve. [from HPO]

Professional guidelines

PubMed

Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.
Linglart L, Gelb BD
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):73-80. Epub 2020 Feb 5 doi: 10.1002/ajmg.c.31765. PMID: 32022400Free PMC Article
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).
Erbel R, Aboyans V, Boileau C, Bossone E, Bartolomeo RD, Eggebrecht H, Evangelista A, Falk V, Frank H, Gaemperli O, Grabenwöger M, Haverich A, Iung B, Manolis AJ, Meijboom F, Nienaber CA, Roffi M, Rousseau H, Sechtem U, Sirnes PA, Allmen RS, Vrints CJ; ESC Committee for Practice Guidelines
Eur Heart J 2014 Nov 1;35(41):2873-926. Epub 2014 Aug 29 doi: 10.1093/eurheartj/ehu281. PMID: 25173340
Turner syndrome: diagnosis and management.
Morgan T
Am Fam Physician 2007 Aug 1;76(3):405-10. PMID: 17708142

Curated

UK NICE Guideline NG208, Heart valve disease presenting in adults: investigation and management, 2021

Recent clinical studies

Etiology

Genetics in bicuspid aortic valve disease: Where are we?
Bravo-Jaimes K, Prakash SK
Prog Cardiovasc Dis 2020 Jul-Aug;63(4):398-406. Epub 2020 Jun 27 doi: 10.1016/j.pcad.2020.06.005. PMID: 32599026Free PMC Article
Pulmonary Valve Replacement for Tetralogy of Fallot.
Balzer D
Methodist Debakey Cardiovasc J 2019 Apr-Jun;15(2):122-132. doi: 10.14797/mdcj-15-2-122. PMID: 31384375Free PMC Article
Cardiovascular Health in Turner Syndrome: A Scientific Statement From the American Heart Association.
Silberbach M, Roos-Hesselink JW, Andersen NH, Braverman AC, Brown N, Collins RT, De Backer J, Eagle KA, Hiratzka LF, Johnson WH Jr, Kadian-Dodov D, Lopez L, Mortensen KH, Prakash SK, Ratchford EV, Saidi A, van Hagen I, Young LT; American Heart Association Council on Cardiovascular Disease in the Young; Council on Genomic and Precision Medicine; and Council on Peripheral Vascular Disease
Circ Genom Precis Med 2018 Oct;11(10):e000048. doi: 10.1161/HCG.0000000000000048. PMID: 30354301
Acute aortic dissection: pathogenesis, risk factors and diagnosis.
Gawinecka J, Schönrath F, von Eckardstein A
Swiss Med Wkly 2017;147:w14489. Epub 2017 Aug 25 doi: 10.4414/smw.2017.14489. PMID: 28871571
Congenital Heart Disease: Causes, Diagnosis, Symptoms, and Treatments.
Sun R, Liu M, Lu L, Zheng Y, Zhang P
Cell Biochem Biophys 2015 Jul;72(3):857-60. doi: 10.1007/s12013-015-0551-6. PMID: 25638345

Diagnosis

Ebstein Anomaly in the Adult Patient.
Fuchs MM, Connolly HM
Cardiol Clin 2020 Aug;38(3):353-363. Epub 2020 Jun 6 doi: 10.1016/j.ccl.2020.04.004. PMID: 32622490
Genetics in bicuspid aortic valve disease: Where are we?
Bravo-Jaimes K, Prakash SK
Prog Cardiovasc Dis 2020 Jul-Aug;63(4):398-406. Epub 2020 Jun 27 doi: 10.1016/j.pcad.2020.06.005. PMID: 32599026Free PMC Article
Cardiac imaging in Ebstein anomaly.
Qureshi MY, O'Leary PW, Connolly HM
Trends Cardiovasc Med 2018 Aug;28(6):403-409. Epub 2018 Jan 12 doi: 10.1016/j.tcm.2018.01.002. PMID: 29409687
Acute aortic dissection: pathogenesis, risk factors and diagnosis.
Gawinecka J, Schönrath F, von Eckardstein A
Swiss Med Wkly 2017;147:w14489. Epub 2017 Aug 25 doi: 10.4414/smw.2017.14489. PMID: 28871571
Congenital Heart Disease: Causes, Diagnosis, Symptoms, and Treatments.
Sun R, Liu M, Lu L, Zheng Y, Zhang P
Cell Biochem Biophys 2015 Jul;72(3):857-60. doi: 10.1007/s12013-015-0551-6. PMID: 25638345

Therapy

Ebstein's Anomaly.
Holst KA, Connolly HM, Dearani JA
Methodist Debakey Cardiovasc J 2019 Apr-Jun;15(2):138-144. doi: 10.14797/mdcj-15-2-138. PMID: 31384377Free PMC Article
Pulmonary Valve Replacement for Tetralogy of Fallot.
Balzer D
Methodist Debakey Cardiovasc J 2019 Apr-Jun;15(2):122-132. doi: 10.14797/mdcj-15-2-122. PMID: 31384375Free 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
Neonatal Ebstein Anomaly.
Kumar TKS, Boston US, Knott-Craig CJ
Semin Thorac Cardiovasc Surg 2017 Autumn;29(3):331-337. Epub 2017 Sep 25 doi: 10.1053/j.semtcvs.2017.09.006. PMID: 28958645
Reexamining remodeling.
Schäfers HJ, Raddatz A, Schmied W, Takahashi H, Miura Y, Kunihara T, Aicher D
J Thorac Cardiovasc Surg 2015 Feb;149(2 Suppl):S30-6. Epub 2014 Sep 18 doi: 10.1016/j.jtcvs.2014.09.048. PMID: 25439784

Prognosis

Ebstein Anomaly in the Adult Patient.
Fuchs MM, Connolly HM
Cardiol Clin 2020 Aug;38(3):353-363. Epub 2020 Jun 6 doi: 10.1016/j.ccl.2020.04.004. PMID: 32622490
Tricuspid Valve Imaging and Intervention in Pediatric and Adult Patients With Congenital Heart Disease.
Qureshi MY, Sommer RJ, Cabalka AK
JACC Cardiovasc Imaging 2019 Apr;12(4):637-651. doi: 10.1016/j.jcmg.2018.10.036. PMID: 30947906
Cardiac imaging in Ebstein anomaly.
Qureshi MY, O'Leary PW, Connolly HM
Trends Cardiovasc Med 2018 Aug;28(6):403-409. Epub 2018 Jan 12 doi: 10.1016/j.tcm.2018.01.002. PMID: 29409687
Reexamining remodeling.
Schäfers HJ, Raddatz A, Schmied W, Takahashi H, Miura Y, Kunihara T, Aicher D
J Thorac Cardiovasc Surg 2015 Feb;149(2 Suppl):S30-6. Epub 2014 Sep 18 doi: 10.1016/j.jtcvs.2014.09.048. PMID: 25439784
Aortic valve disease.
Rayner J, Coffey S, Newton J, Prendergast BD
Int J Clin Pract 2014 Oct;68(10):1209-15. Epub 2014 Jun 4 doi: 10.1111/ijcp.12471. PMID: 24898790

Clinical prediction guides

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
Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with increased nuchal translucency, tricuspid regurgitation and abnormal flow in ductus venosus.
Minnella GP, Crupano FM, Syngelaki A, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 May;55(5):637-644. doi: 10.1002/uog.21956. PMID: 31875326
Ebstein's Anomaly.
Holst KA, Connolly HM, Dearani JA
Methodist Debakey Cardiovasc J 2019 Apr-Jun;15(2):138-144. doi: 10.14797/mdcj-15-2-138. PMID: 31384377Free PMC Article
Morphologic Types of Tricuspid Regurgitation: Characteristics and Prognostic Implications.
Prihadi EA, Delgado V, Leon MB, Enriquez-Sarano M, Topilsky Y, Bax JJ
JACC Cardiovasc Imaging 2019 Mar;12(3):491-499. doi: 10.1016/j.jcmg.2018.09.027. PMID: 30846123
Cardiac imaging in Ebstein anomaly.
Qureshi MY, O'Leary PW, Connolly HM
Trends Cardiovasc Med 2018 Aug;28(6):403-409. Epub 2018 Jan 12 doi: 10.1016/j.tcm.2018.01.002. PMID: 29409687

Recent systematic reviews

End-Diastolic Forward Flow and Restrictive Physiology in Repaired Tetralogy of Fallot: A Systematic Review and Meta-Analysis.
Van den Eynde J, Derdeyn E, Schuermans A, Shivaram P, Budts W, Danford DA, Kutty S
J Am Heart Assoc 2022 Apr 5;11(7):e024036. Epub 2022 Mar 18 doi: 10.1161/JAHA.121.024036. PMID: 35301867Free PMC Article
Heart Involvement in Inflammatory Rheumatic Diseases: A Systematic Literature Review.
Buleu F, Sirbu E, Caraba A, Dragan S
Medicina (Kaunas) 2019 Jun 6;55(6) doi: 10.3390/medicina55060249. PMID: 31174287Free PMC Article
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
Bicuspid aortic valve aortopathy: genetics, pathophysiology and medical therapy.
Abdulkareem N, Smelt J, Jahangiri M
Interact Cardiovasc Thorac Surg 2013 Sep;17(3):554-9. Epub 2013 May 31 doi: 10.1093/icvts/ivt196. PMID: 23728086Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
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      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2021
      UK NICE Guideline NG208, Heart valve disease presenting in adults: investigation and management, 2021

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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