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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

Sternal-sparing aortic valve replacement with sutureless valve in bicuspid valve.
Sá MP, Van den Eynde J, Erten O, Sicouri S, Ramlawi B
J Card Surg 2022 Dec;37(12):5653-5662. Epub 2022 Nov 15 doi: 10.1111/jocs.17185. PMID: 36378946
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
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
New Frontiers in Lp(a)-Targeted Therapies.
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
Aortic valve repair for aortic regurgitation and preoperative echocardiographic assessment.
Kunihara T
J Med Ultrason (2001) 2019 Jan;46(1):51-62. Epub 2018 Sep 19 doi: 10.1007/s10396-018-0903-0. PMID: 30232651

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
Von Willebrand factor revisited.
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
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
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

Therapy

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
Study Design and Rationale of EXPLORER-HCM: Evaluation of Mavacamten in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy.
Ho CY, Olivotto I, Jacoby D, Lester SJ, Roe M, Wang A, Waldman CB, Zhang D, Sehnert AJ, Heitner SB
Circ Heart Fail 2020 Jun;13(6):e006853. Epub 2020 Jun 5 doi: 10.1161/CIRCHEARTFAILURE.120.006853. PMID: 32498620
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

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
Surgical aortic valve replacement and infective endocarditis.
Malmberg M, Ahtela E, Sipilä JOT, Gunn J, Rautava P, Kytö V
Eur J Clin Invest 2021 Jun;51(6):e13476. Epub 2020 Dec 23 doi: 10.1111/eci.13476. PMID: 33326602
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
Bicuspid Aortic Valve in 2 Model Species and Review of the Literature.
Fernández B, Soto-Navarrete MT, López-García A, López-Unzu MÁ, Durán AC, Fernández MC
Vet Pathol 2020 Mar;57(2):321-331. Epub 2020 Feb 21 doi: 10.1177/0300985819900018. PMID: 32079504
UK TAVI registry.
Ludman PF
Heart 2019 Mar;105(Suppl 2):s2-s5. doi: 10.1136/heartjnl-2018-313510. PMID: 30846517

Clinical prediction guides

Sex Difference in Outcomes Following Transcatheter Aortic Valve Replacement in Bicuspid Aortic Stenosis.
He JJ, Xiong TY, Yao YJ, Peng Y, Wei JF, He S, Chen Y, Li Q, Zhao ZG, Wei X, Zhou WX, Liang YJ, Tang H, Chen G, Zhou X, Zheng MX, Meng W, Liao YB, Li YJ, Li YM, Chen F, Ou YW, Liu Q, Li X, Wang X, Zhang Y, Zhu ZK, Yang HR, Jia KY, Chen M, Feng Y
JACC Cardiovasc Interv 2022 Aug 22;15(16):1652-1660. doi: 10.1016/j.jcin.2022.06.036. PMID: 35981839
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
Risk Stratification in Bicuspid Aortic Valve Aortopathy: Emerging Evidence and Future Perspectives.
Della Corte A, Michelena HI, Citarella A, Votta E, Piatti F, Lo Presti F, Ashurov R, Cipollaro M, Forte A
Curr Probl Cardiol 2021 Mar;46(3):100428. Epub 2019 Jun 21 doi: 10.1016/j.cpcardiol.2019.06.002. PMID: 31296418
Clinical outcomes following balloon aortic valvuloplasty.
Bularga A, Bing R, Shah AS, Adamson PD, Behan M, Newby DE, Flapan A, Uren N, Cruden N
Open Heart 2020 Sep;7(2) doi: 10.1136/openhrt-2020-001330. PMID: 32907920Free PMC Article
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

Recent systematic reviews

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
Exercise-based cardiac rehabilitation for adults after heart valve surgery.
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
Transcatheter aortic valve implantation vs. surgical aortic valve replacement for treatment of symptomatic severe aortic stenosis: an updated meta-analysis.
Siontis GCM, Overtchouk P, Cahill TJ, Modine T, Prendergast B, Praz F, Pilgrim T, Petrinic T, Nikolakopoulou A, Salanti G, Søndergaard L, Verma S, Jüni P, Windecker S
Eur Heart J 2019 Oct 7;40(38):3143-3153. doi: 10.1093/eurheartj/ehz275. PMID: 31329852
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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