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Aortic valve disease 2(AOVD2)

MedGen UID:
762200
Concept ID:
C3542024
Disease or Syndrome
Synonym: AOVD2
 
Gene (location): SMAD6 (15q22.31)
 
Monarch Initiative: MONDO:0013902
OMIM®: 614823

Definition

Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene. [from MONDO]

Clinical features

From HPO
Aortic aneurysm
MedGen UID:
362
Concept ID:
C0003486
Disease or Syndrome
Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.
Coarctation of aorta
MedGen UID:
1617
Concept ID:
C0003492
Congenital Abnormality
Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
Aortic regurgitation
MedGen UID:
8153
Concept ID:
C0003504
Disease or Syndrome
An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.
Aortic valve stenosis
MedGen UID:
1621
Concept ID:
C0003507
Pathologic Function
The presence of a stenosis (narrowing) of the aortic valve.
Patent foramen ovale
MedGen UID:
8891
Concept ID:
C0016522
Congenital Abnormality
Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.
Mitral regurgitation
MedGen UID:
7670
Concept ID:
C0026266
Disease or Syndrome
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
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).
Calcification of the aorta
MedGen UID:
202111
Concept ID:
C1096249
Pathologic Function
Calcification, that is, pathological deposition of calcium salts in the aorta.
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.
Pulmonic stenosis
MedGen UID:
408291
Concept ID:
C1956257
Disease or Syndrome
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).
Aortic tortuosity
MedGen UID:
870555
Concept ID:
C4025003
Anatomical Abnormality
Abnormal tortuous (i.e., twisted) form of the aorta.

Professional guidelines

PubMed

Lauder L, Mahfoud F, Azizi M, Bhatt DL, Ewen S, Kario K, Parati G, Rossignol P, Schlaich MP, Teo KK, Townsend RR, Tsioufis C, Weber MA, Weber T, Böhm M
Eur Heart J 2023 Jun 20;44(23):2066-2077. doi: 10.1093/eurheartj/ehac395. PMID: 36342266
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
Tuohy CV, Kaul S, Song HK, Nazer B, Heitner SB
Eur J Heart Fail 2020 Feb;22(2):228-240. Epub 2020 Jan 9 doi: 10.1002/ejhf.1715. PMID: 31919938

Recent clinical studies

Etiology

Verma R, Cohen G, Colbert J, Fedak PWM
Curr Opin Cardiol 2023 Mar 1;38(2):61-67. Epub 2022 Dec 29 doi: 10.1097/HCO.0000000000001020. PMID: 36718616
Vincent F, Ternacle J, Denimal T, Shen M, Redfors B, Delhaye C, Simonato M, Debry N, Verdier B, Shahim B, Pamart T, Spillemaeker H, Schurtz G, Pontana F, Thourani VH, Pibarot P, Van Belle E
Circulation 2021 Mar 9;143(10):1043-1061. Epub 2021 Mar 8 doi: 10.1161/CIRCULATIONAHA.120.048048. PMID: 33683945
Patel PM, Wei JW, McPherson L, Binongo J, Leshnower BG, Chen EP
J Card Surg 2021 Jan;36(1):118-123. Epub 2020 Nov 22 doi: 10.1111/jocs.15210. PMID: 33225511
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
Siu SC, Silversides CK
J Am Coll Cardiol 2010 Jun 22;55(25):2789-800. doi: 10.1016/j.jacc.2009.12.068. PMID: 20579534

Diagnosis

Verma R, Cohen G, Colbert J, Fedak PWM
Curr Opin Cardiol 2023 Mar 1;38(2):61-67. Epub 2022 Dec 29 doi: 10.1097/HCO.0000000000001020. PMID: 36718616
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
Vincent F, Ternacle J, Denimal T, Shen M, Redfors B, Delhaye C, Simonato M, Debry N, Verdier B, Shahim B, Pamart T, Spillemaeker H, Schurtz G, Pontana F, Thourani VH, Pibarot P, Van Belle E
Circulation 2021 Mar 9;143(10):1043-1061. Epub 2021 Mar 8 doi: 10.1161/CIRCULATIONAHA.120.048048. PMID: 33683945
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
Siu SC, Silversides CK
J Am Coll Cardiol 2010 Jun 22;55(25):2789-800. doi: 10.1016/j.jacc.2009.12.068. PMID: 20579534

Therapy

Diederichsen ACP, Lindholt JS, Möller S, Øvrehus KA, Auscher S, Lambrechtsen J, Hosbond SE, Alan DH, Urbonaviciene G, Becker SW, Fredgart MH, Hasific S, Folkestad L, Gerke O, Rasmussen LM, Møller JE, Mickley H, Dahl JS
Circulation 2022 May 3;145(18):1387-1397. Epub 2022 Apr 25 doi: 10.1161/CIRCULATIONAHA.121.057008. PMID: 35465686Free PMC Article
Vincent F, Ternacle J, Denimal T, Shen M, Redfors B, Delhaye C, Simonato M, Debry N, Verdier B, Shahim B, Pamart T, Spillemaeker H, Schurtz G, Pontana F, Thourani VH, Pibarot P, Van Belle E
Circulation 2021 Mar 9;143(10):1043-1061. Epub 2021 Mar 8 doi: 10.1161/CIRCULATIONAHA.120.048048. PMID: 33683945
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
Itchhaporia D
Clin Cardiol 2018 Feb;41(2):228-231. Epub 2018 Feb 27 doi: 10.1002/clc.22912. PMID: 29485678Free PMC Article
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

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
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
Siu SC, Silversides CK
J Am Coll Cardiol 2010 Jun 22;55(25):2789-800. doi: 10.1016/j.jacc.2009.12.068. PMID: 20579534
Baxley WA
Curr Opin Cardiol 1994 Mar;9(2):152-7. doi: 10.1097/00001573-199403000-00003. PMID: 8199380

Clinical prediction guides

Verma R, Cohen G, Colbert J, Fedak PWM
Curr Opin Cardiol 2023 Mar 1;38(2):61-67. Epub 2022 Dec 29 doi: 10.1097/HCO.0000000000001020. PMID: 36718616
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
Patel PM, Wei JW, McPherson L, Binongo J, Leshnower BG, Chen EP
J Card Surg 2021 Jan;36(1):118-123. Epub 2020 Nov 22 doi: 10.1111/jocs.15210. PMID: 33225511
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
Baxley WA
Curr Opin Cardiol 1994 Mar;9(2):152-7. doi: 10.1097/00001573-199403000-00003. PMID: 8199380

Recent systematic reviews

Yokoyama Y, Kuno T, Toyoda N, Fujisaki T, Takagi H, Itagaki S, Ibrahim M, Ouzounian M, El-Hamamsy I, Fukuhara S
J Am Heart Assoc 2023 Jan 3;12(1):e8066. Epub 2022 Dec 24 doi: 10.1161/JAHA.122.027715. PMID: 36565200Free PMC Article
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
Bille K, Figueiras D, Schamasch P, Kappenberger L, Brenner JI, Meijboom FJ, Meijboom EJ
Eur J Cardiovasc Prev Rehabil 2006 Dec;13(6):859-75. doi: 10.1097/01.hjr.0000238397.50341.4a. PMID: 17143117
Maron BJ
JAMA 2002 Mar 13;287(10):1308-20. doi: 10.1001/jama.287.10.1308. PMID: 11886323

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