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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.
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.
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).
Aortic root aneurysm
MedGen UID:
720712
Concept ID:
C1298820
Anatomical Abnormality
An abnormal localized widening (dilatation) of the aortic root.
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.

Professional guidelines

PubMed

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
Davidson LJ, Davidson CJ
JAMA 2021 Jun 22;325(24):2480-2494. doi: 10.1001/jama.2021.2133. PMID: 34156404
Grimard BH, Safford RE, Burns EL
Am Fam Physician 2016 Mar 1;93(5):371-8. PMID: 26926974

Recent clinical studies

Etiology

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
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
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
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
Borrelli MJ, Youssef A, Boffa MB, Koschinsky ML
Trends Pharmacol Sci 2019 Mar;40(3):212-225. Epub 2019 Feb 4 doi: 10.1016/j.tips.2019.01.004. PMID: 30732864

Diagnosis

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
Yasar SJ, Abdullah O, Fay W, Balla S
J Interv Cardiol 2018 Jun;31(3):360-367. Epub 2017 Dec 28 doi: 10.1111/joic.12478. PMID: 29285810
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
Grimard BH, Safford RE, Burns EL
Am Fam Physician 2016 Mar 1;93(5):371-8. PMID: 26926974
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

Therapy

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
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
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
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
Strange G, Stewart S, Celermajer D, Prior D, Scalia GM, Marwick T, Ilton M, Joseph M, Codde J, Playford D; National Echocardiography Database of Australia contributing sites
J Am Coll Cardiol 2019 Oct 15;74(15):1851-1863. Epub 2019 Sep 3 doi: 10.1016/j.jacc.2019.08.004. PMID: 31491546

Prognosis

Aschauer J, Zilberszac R, Gleiss A, Colizzi C, Binder T, Bruno P, Laufer G, Massetti M, Gabriel H, Rosenhek R
Eur Heart J Cardiovasc Imaging 2024 Feb 22;25(3):425-435. doi: 10.1093/ehjci/jead312. PMID: 37966276Free PMC Article
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
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
Norrish G, Ding T, Field E, Ziólkowska L, Olivotto I, Limongelli G, Anastasakis A, Weintraub R, Biagini E, Ragni L, Prendiville T, Duignan S, McLeod K, Ilina M, Fernández A, Bökenkamp R, Baban A, Kubuš P, Daubeney PEF, Sarquella-Brugada G, Cesar S, Marrone C, Bhole V, Medrano C, Uzun O, Brown E, Gran F, Castro FJ, Stuart G, Vignati G, Barriales-Villa R, Guereta LG, Adwani S, Linter K, Bharucha T, Garcia-Pavia P, Rasmussen TB, Calcagnino MM, Jones CB, De Wilde H, Toru-Kubo J, Felice T, Mogensen J, Mathur S, Reinhardt Z, O'Mahony C, Elliott PM, Omar RZ, Kaski JP
JAMA Cardiol 2019 Sep 1;4(9):918-927. doi: 10.1001/jamacardio.2019.2861. PMID: 31411652Free PMC Article
Ludman PF
Heart 2019 Mar;105(Suppl 2):s2-s5. doi: 10.1136/heartjnl-2018-313510. PMID: 30846517

Clinical prediction guides

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
Aschauer J, Zilberszac R, Gleiss A, Colizzi C, Binder T, Bruno P, Laufer G, Massetti M, Gabriel H, Rosenhek R
Eur Heart J Cardiovasc Imaging 2024 Feb 22;25(3):425-435. doi: 10.1093/ehjci/jead312. PMID: 37966276Free PMC Article
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
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
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

Recent systematic reviews

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
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
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
Abraham LN, Sibilitz KL, Berg SK, Tang LH, Risom SS, Lindschou J, Taylor RS, Borregaard B, Zwisler AD
Cochrane Database Syst Rev 2021 May 7;5(5):CD010876. doi: 10.1002/14651858.CD010876.pub3. PMID: 33962483Free PMC Article
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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