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Aortic valve disease 3(AOVD3)

MedGen UID:
1681142
•Concept ID:
C5193127
•
Disease or Syndrome
Synonyms: AORTIC VALVE DISEASE 3; AORTIC VALVE STENOSIS; AOVD3; BICUSPID AORTIC VALVE
 
Gene (location): ROBO4 (11q24.2)
 
Monarch Initiative: MONDO:0032783
OMIM®: 618496

Definition

Aortic valve disease-3 (AOVD3) is characterized by aortic stenosis and/or bicuspid aortic valve (BAV), associated in some patients with aneurysm of the aortic root and/or ascending aorta. Atrial septal defect (ASD) has also been observed in some individuals (Gould et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 (109730). [from OMIM]

Clinical features

From HPO
Aortic valve stenosis
MedGen UID:
1621
•Concept ID:
C0003507
•
Pathologic Function
The presence of a stenosis (narrowing) of the aortic valve.
See: Feature record | Search on this feature
Atrial septal defect
MedGen UID:
6753
•Concept ID:
C0018817
•
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
See: Feature record | Search on this feature
Bicuspid aortic valve
MedGen UID:
57436
•Concept ID:
C0149630
•
Congenital Abnormality
Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcification of the valve and the aorta has been observed, and some patients exhibit coarctation of the aorta (Tan et al., 2012; Luyckx et al., 2019; Park et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 (109730).
See: Feature record | Search on this feature
Aortic root aneurysm
MedGen UID:
720712
•Concept ID:
C1298820
•
Anatomical Abnormality
An abnormal localized widening (dilatation) of the aortic root.
See: Feature record | Search on this feature
Ascending aortic dissection
MedGen UID:
322966
•Concept ID:
C1836653
•
Disease or Syndrome
A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.
See: Feature record | Search on this feature

Professional guidelines

PubMed

International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes.
Michelena HI, Della Corte A, Evangelista A, Maleszewski JJ, Edwards WD, Roman MJ, Devereux RB, Fernández B, Asch FM, Barker AJ, Sierra-Galan LM, De Kerchove L, Fernandes SM, Fedak PWM, Girdauskas E, Delgado V, Abbara S, Lansac E, Prakash SK, Bissell MM, Popescu BA, Hope MD, Sitges M, Thourani VH, Pibarot P, Chandrasekaran K, Lancellotti P, Borger MA, Forrest JK, Webb J, Milewicz DM, Makkar R, Leon MB, Sanders SP, Markl M, Ferrari VA, Roberts WC, Song JK, Blanke P, White CS, Siu S, Svensson LG, Braverman AC, Bavaria J, Sundt TM, El Khoury G, De Paulis R, Enriquez-Sarano M, Bax JJ, Otto CM, Schäfers HJ; Endorsed by the Heart Valve Society (HVS), European Association of Cardiovascular Imaging (EACVI), Society of Thoracic Surgeons (STS), American Association for Thoracic Surgery (AATS), Society for Cardiovascular Magnetic Resonance (SCMR), Society of Cardiovascular Computed Tomography (SCCT), North American Society for Cardiovascular Imaging (NASCI) and the International Bicuspid Aortic Valve Consortium (BAVCon)
Eur J Cardiothorac Surg 2021 Sep 11;60(3):448-476. doi: 10.1093/ejcts/ezab038. PMID: 34293102
Transcatheter Treatment of Valvular Heart Disease: A Review.
Davidson LJ, Davidson CJ
JAMA 2021 Jun 22;325(24):2480-2494. doi: 10.1001/jama.2021.2133. PMID: 34156404
Aortic Stenosis: Diagnosis and Treatment.
Grimard BH, Safford RE, Burns EL
Am Fam Physician 2016 Mar 1;93(5):371-8. PMID: 26926974

Recent clinical studies

Etiology

Transcatheter aortic valve implantation in low-risk tricuspid or bicuspid aortic stenosis: the NOTION-2 trial.
Jørgensen TH, Thyregod HGH, Savontaus M, Willemen Y, Bleie Ø, Tang M, Niemela M, Angerås O, Gudmundsdóttir IJ, Sartipy U, Dagnegaard H, Laine M, Rück A, Piuhola J, Petursson P, Christiansen EH, Malmberg M, Olsen PS, Haaverstad R, Sondergaard L, De Backer O; NOTION-2 investigators
Eur Heart J 2024 Oct 5;45(37):3804-3814. doi: 10.1093/eurheartj/ehae331. PMID: 38747246
Third-Generation Transcatheter Aortic Heart Valve with Reverse Parachute Sealing Cuff in Patients with Aortic Valve Disease.
Malhotra G, Cole CMW, Cox SV, Ross JDW, Dooris M, Moore PT, Chong AA, Dahiya A, Korver K, Hayman SM, Camuglia AC
Heart Lung Circ 2024 Mar;33(3):324-331. Epub 2024 Jan 5 doi: 10.1016/j.hlc.2023.11.019. PMID: 38184427
Seven-year outcomes following aortic valve replacement with a novel tissue bioprosthesis.
Beaver T, Bavaria JE, Griffith B, Svensson LG, Pibarot P, Borger MA, Sharaf OM, Heimansohn DA, Thourani VH, Blackstone EH, Puskas JD; COMMENCE Trial Investigators
J Thorac Cardiovasc Surg 2024 Sep;168(3):781-791. Epub 2023 Sep 29 doi: 10.1016/j.jtcvs.2023.09.047. PMID: 37778503
Propensity-Matched Comparison of the Ross Procedure and Prosthetic Aortic Valve Replacement in Adults.
El-Hamamsy I, Toyoda N, Itagaki S, Stelzer P, Varghese R, Williams EE, Erogova N, Adams DH
J Am Coll Cardiol 2022 Mar 1;79(8):805-815. doi: 10.1016/j.jacc.2021.11.057. PMID: 35210036
Conduction defects in aortic valve disease.
Thompson R, Mitchell A, Ahmed M, Towers M, Yacoub M
Am Heart J 1979 Jul;98(1):3-10. doi: 10.1016/0002-8703(79)90313-2. PMID: 313146

Diagnosis

International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes.
Michelena HI, Della Corte A, Evangelista A, Maleszewski JJ, Edwards WD, Roman MJ, Devereux RB, Fernández B, Asch FM, Barker AJ, Sierra-Galan LM, De Kerchove L, Fernandes SM, Fedak PWM, Girdauskas E, Delgado V, Abbara S, Lansac E, Prakash SK, Bissell MM, Popescu BA, Hope MD, Sitges M, Thourani VH, Pibarot P, Chandrasekaran K, Lancellotti P, Borger MA, Forrest JK, Webb J, Milewicz DM, Makkar R, Leon MB, Sanders SP, Markl M, Ferrari VA, Roberts WC, Song JK, Blanke P, White CS, Siu S, Svensson LG, Braverman AC, Bavaria J, Sundt TM, El Khoury G, De Paulis R, Enriquez-Sarano M, Bax JJ, Otto CM, Schäfers HJ
J Thorac Cardiovasc Surg 2021 Sep;162(3):e383-e414. Epub 2021 Jul 22 doi: 10.1016/j.jtcvs.2021.06.019. PMID: 34304896
Aortic Stenosis: Pathophysiology, Diagnosis, and Therapy.
Joseph J, Naqvi SY, Giri J, Goldberg S
Am J Med 2017 Mar;130(3):253-263. Epub 2016 Nov 1 doi: 10.1016/j.amjmed.2016.10.005. PMID: 27810479
Aortic Stenosis: Diagnosis and Treatment.
Grimard BH, Safford RE, Burns EL
Am Fam Physician 2016 Mar 1;93(5):371-8. PMID: 26926974
Asymptomatic aortic stenosis: when to operate?
Kaleschke G, Baumgartner H
Curr Cardiol Rep 2011 Jun;13(3):220-5. doi: 10.1007/s11886-011-0178-1. PMID: 21360112
Interface between valve disease and ischaemic heart disease.
Iung B
Heart 2000 Sep;84(3):347-52. doi: 10.1136/heart.84.3.347. PMID: 10956305Free PMC Article

Therapy

Transcatheter aortic valve implantation in low-risk tricuspid or bicuspid aortic stenosis: the NOTION-2 trial.
Jørgensen TH, Thyregod HGH, Savontaus M, Willemen Y, Bleie Ø, Tang M, Niemela M, Angerås O, Gudmundsdóttir IJ, Sartipy U, Dagnegaard H, Laine M, Rück A, Piuhola J, Petursson P, Christiansen EH, Malmberg M, Olsen PS, Haaverstad R, Sondergaard L, De Backer O; NOTION-2 investigators
Eur Heart J 2024 Oct 5;45(37):3804-3814. doi: 10.1093/eurheartj/ehae331. PMID: 38747246
Efficacy and Safety of Mavacamten in the Treatment of Hypertrophic Cardiomyopathy: A Systematic Review.
Bishev D, Fabara S, Loseke I, Alok A, Al-Ani H, Bazikian Y
Heart Lung Circ 2023 Sep;32(9):1049-1056. Epub 2023 Jul 14 doi: 10.1016/j.hlc.2023.05.019. PMID: 37453852
Transcatheter versus surgical aortic valve replacement in lower-risk and higher-risk patients: a meta-analysis of randomized trials.
Ahmad Y, Howard JP, Arnold AD, Madhavan MV, Cook CM, Alu M, Mack MJ, Reardon MJ, Thourani VH, Kapadia S, Thyregod HGH, Sondergaard L, Jørgensen TH, Toff WD, Van Mieghem NM, Makkar RR, Forrest JK, Leon MB
Eur Heart J 2023 Mar 7;44(10):836-852. doi: 10.1093/eurheartj/ehac642. PMID: 36660821
Epidemiology of Valvular Heart Disease.
Peters AS, Duggan JP, Trachiotis GD, Antevil JL
Surg Clin North Am 2022 Jun;102(3):517-528. doi: 10.1016/j.suc.2022.01.008. PMID: 35671771
Outcomes 2 Years After Transcatheter Aortic Valve Replacement in Patients at Low Surgical Risk.
Leon MB, Mack MJ, Hahn RT, Thourani VH, Makkar R, Kodali SK, Alu MC, Madhavan MV, Chau KH, Russo M, Kapadia SR, Malaisrie SC, Cohen DJ, Blanke P, Leipsic JA, Williams MR, McCabe JM, Brown DL, Babaliaros V, Goldman S, Herrmann HC, Szeto WY, Genereux P, Pershad A, Lu M, Webb JG, Smith CR, Pibarot P; PARTNER 3 Investigators
J Am Coll Cardiol 2021 Mar 9;77(9):1149-1161. doi: 10.1016/j.jacc.2020.12.052. PMID: 33663731

Prognosis

Sinus plication technique for neoaorta dilation and regurgitation in patients with repaired congenital heart diseases.
Kisamori E, Kotani Y, Suzuki H, Kasahara S
Eur J Cardiothorac Surg 2022 Sep 2;62(4) doi: 10.1093/ejcts/ezac456. PMID: 36083030
Outcomes 2 Years After Transcatheter Aortic Valve Replacement in Patients at Low Surgical Risk.
Leon MB, Mack MJ, Hahn RT, Thourani VH, Makkar R, Kodali SK, Alu MC, Madhavan MV, Chau KH, Russo M, Kapadia SR, Malaisrie SC, Cohen DJ, Blanke P, Leipsic JA, Williams MR, McCabe JM, Brown DL, Babaliaros V, Goldman S, Herrmann HC, Szeto WY, Genereux P, Pershad A, Lu M, Webb JG, Smith CR, Pibarot P; PARTNER 3 Investigators
J Am Coll Cardiol 2021 Mar 9;77(9):1149-1161. doi: 10.1016/j.jacc.2020.12.052. PMID: 33663731
Bicuspid Aortic Valve Morphology and Outcomes After Transcatheter Aortic Valve Replacement.
Yoon SH, Kim WK, Dhoble A, Milhorini Pio S, Babaliaros V, Jilaihawi H, Pilgrim T, De Backer O, Bleiziffer S, Vincent F, Shmidt T, Butter C, Kamioka N, Eschenbach L, Renker M, Asami M, Lazkani M, Fujita B, Birs A, Barbanti M, Pershad A, Landes U, Oldemeyer B, Kitamura M, Oakley L, Ochiai T, Chakravarty T, Nakamura M, Ruile P, Deuschl F, Berman D, Modine T, Ensminger S, Kornowski R, Lange R, McCabe JM, Williams MR, Whisenant B, Delgado V, Windecker S, Van Belle E, Sondergaard L, Chevalier B, Mack M, Bax JJ, Leon MB, Makkar RR; Bicuspid Aortic Valve Stenosis Transcatheter Aortic Valve Replacement Registry Investigators
J Am Coll Cardiol 2020 Sep 1;76(9):1018-1030. doi: 10.1016/j.jacc.2020.07.005. PMID: 32854836
UK TAVI registry.
Ludman PF
Heart 2019 Mar;105(Suppl 2):s2-s5. doi: 10.1136/heartjnl-2018-313510. PMID: 30846517
Conduction defects in aortic valve disease.
Thompson R, Mitchell A, Ahmed M, Towers M, Yacoub M
Am Heart J 1979 Jul;98(1):3-10. doi: 10.1016/0002-8703(79)90313-2. PMID: 313146

Clinical prediction guides

Transcatheter aortic valve implantation in low-risk tricuspid or bicuspid aortic stenosis: the NOTION-2 trial.
Jørgensen TH, Thyregod HGH, Savontaus M, Willemen Y, Bleie Ø, Tang M, Niemela M, Angerås O, Gudmundsdóttir IJ, Sartipy U, Dagnegaard H, Laine M, Rück A, Piuhola J, Petursson P, Christiansen EH, Malmberg M, Olsen PS, Haaverstad R, Sondergaard L, De Backer O; NOTION-2 investigators
Eur Heart J 2024 Oct 5;45(37):3804-3814. doi: 10.1093/eurheartj/ehae331. PMID: 38747246
Seven-year outcomes following aortic valve replacement with a novel tissue bioprosthesis.
Beaver T, Bavaria JE, Griffith B, Svensson LG, Pibarot P, Borger MA, Sharaf OM, Heimansohn DA, Thourani VH, Blackstone EH, Puskas JD; COMMENCE Trial Investigators
J Thorac Cardiovasc Surg 2024 Sep;168(3):781-791. Epub 2023 Sep 29 doi: 10.1016/j.jtcvs.2023.09.047. PMID: 37778503
International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes.
Michelena HI, Della Corte A, Evangelista A, Maleszewski JJ, Edwards WD, Roman MJ, Devereux RB, Fernández B, Asch FM, Barker AJ, Sierra-Galan LM, De Kerchove L, Fernandes SM, Fedak PWM, Girdauskas E, Delgado V, Abbara S, Lansac E, Prakash SK, Bissell MM, Popescu BA, Hope MD, Sitges M, Thourani VH, Pibarot P, Chandrasekaran K, Lancellotti P, Borger MA, Forrest JK, Webb J, Milewicz DM, Makkar R, Leon MB, Sanders SP, Markl M, Ferrari VA, Roberts WC, Song JK, Blanke P, White CS, Siu S, Svensson LG, Braverman AC, Bavaria J, Sundt TM, El Khoury G, De Paulis R, Enriquez-Sarano M, Bax JJ, Otto CM, Schäfers HJ
J Thorac Cardiovasc Surg 2021 Sep;162(3):e383-e414. Epub 2021 Jul 22 doi: 10.1016/j.jtcvs.2021.06.019. PMID: 34304896
Predictors of Aortic Valve Repair Failure.
Yanagawa B, Mazine A, El-Hamamsy I
Innovations (Phila) 2019 Jun;14(3):199-208. Epub 2019 May 14 doi: 10.1177/1556984519845905. PMID: 31084444
Quantitative analysis of 3-dimensional aortic annular geometry: implication for aortic root reimplantation.
Ryan LP, Levack MM, Gorman JH 3rd, Gorman RC, Milewski RC, Bavaria JE
J Thorac Cardiovasc Surg 2014 Mar;147(3):1103-5. Epub 2013 Dec 9 doi: 10.1016/j.jtcvs.2013.03.046. PMID: 24332105Free PMC Article

Recent systematic reviews

Neuraxial Anesthesia in Patients With Aortic Stenosis: A Systematic Review.
Tabrizi NS, Demos RA, Schumann R, Musuku SR, Shapeton AD
J Cardiothorac Vasc Anesth 2024 Feb;38(2):505-516. Epub 2023 Sep 24 doi: 10.1053/j.jvca.2023.09.027. PMID: 37880038
Cardiac Rehabilitation After TAVI -A Systematic Review and Meta-Analysis.
Oz A, Tsoumas I, Lampropoulos K, Xanthos T, Karpettas N, Papadopoulos D
Curr Probl Cardiol 2023 Mar;48(3):101531. Epub 2022 Dec 7 doi: 10.1016/j.cpcardiol.2022.101531. PMID: 36493915
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
Dual Antiplatelet Therapy After Percutaneous Coronary Intervention and Drug-Eluting Stents: A Systematic Review and Network Meta-Analysis.
Khan SU, Singh M, Valavoor S, Khan MU, Lone AN, Khan MZ, Khan MS, Mani P, Kapadia SR, Michos ED, Stone GW, Kalra A, Bhatt DL
Circulation 2020 Oct 13;142(15):1425-1436. Epub 2020 Aug 3 doi: 10.1161/CIRCULATIONAHA.120.046308. PMID: 32795096Free PMC Article
Acute Aortic Dissection and Intramural Hematoma: A Systematic Review.
Mussa FF, Horton JD, Moridzadeh R, Nicholson J, Trimarchi S, Eagle KA
JAMA 2016 Aug 16;316(7):754-63. doi: 10.1001/jama.2016.10026. PMID: 27533160

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