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Familial bicuspid aortic valve

MedGen UID:
1670287
•Concept ID:
C4749284
•
Congenital Abnormality
Synonyms: Familial BAV; familial BAV; Familial BAV (bicuspid aortic valve); familial bicuspid aortic valve
SNOMED CT: Familial BAV (bicuspid aortic valve) (770435005); Familial bicuspid aortic valve (770435005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0007194
OMIM® Phenotypic series: PS109730
Orphanet: ORPHA402075

Definition

A rare genetic aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (such as aortic dilation, aortic aneurysm and/or dissection). [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

2022 ACC/AHA guideline for the diagnosis and management of aortic disease: A report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.
Writing Committee Members, Isselbacher EM, Preventza O, Hamilton Black J 3rd, Augoustides JG, Beck AW, Bolen MA, Braverman AC, Bray BE, Brown-Zimmerman MM, Chen EP, Collins TJ, DeAnda A Jr, Fanola CL, Girardi LN, Hicks CW, Hui DS, Schuyler Jones W, Kalahasti V, Kim KM, Milewicz DM, Oderich GS, Ogbechie L, Promes SB, Ross EG, Schermerhorn ML, Singleton Times S, Tseng EE, Wang GJ, Woo YJ; Peer Review Committee Members, Faxon DP, Upchurch GR Jr, Aday AW, Azizzadeh A, Boisen M, Hawkins B, Kramer CM, Luc JGY, MacGillivray TE, Malaisrie SC, Osteen K, Patel HJ, Patel PJ, Popescu WM, Rodriguez E, Sorber R, Tsao PS, Santos Volgman A; AHA/ACC Joint Committee Members, Beckman JA, Otto CM, O'Gara PT, Armbruster A, Birtcher KK, de las Fuentes L, Deswal A, Dixon DL, Gorenek B, Haynes N, Hernandez AF, Joglar JA, Jones WS, Mark D, Mukherjee D, Palaniappan L, Piano MR, Rab T, Spatz ES, Tamis-Holland JE, Woo YJ
J Thorac Cardiovasc Surg 2023 Nov;166(5):e182-e331. Epub 2023 Jun 28 doi: 10.1016/j.jtcvs.2023.04.023. PMID: 37389507Free PMC Article
2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.
Writing Committee Members, Isselbacher EM, Preventza O, Hamilton Black Iii J, Augoustides JG, Beck AW, Bolen MA, Braverman AC, Bray BE, Brown-Zimmerman MM, Chen EP, Collins TJ, DeAnda A Jr, Fanola CL, Girardi LN, Hicks CW, Hui DS, Jones WS, Kalahasti V, Kim KM, Milewicz DM, Oderich GS, Ogbechie L, Promes SB, Ross EG, Schermerhorn ML, Times SS, Tseng EE, Wang GJ, Woo YJ
J Am Coll Cardiol 2022 Dec 13;80(24):e223-e393. Epub 2022 Nov 2 doi: 10.1016/j.jacc.2022.08.004. PMID: 36334952Free PMC Article
2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.
Isselbacher EM, Preventza O, Hamilton Black J 3rd, Augoustides JG, Beck AW, Bolen MA, Braverman AC, Bray BE, Brown-Zimmerman MM, Chen EP, Collins TJ, DeAnda A Jr, Fanola CL, Girardi LN, Hicks CW, Hui DS, Schuyler Jones W, Kalahasti V, Kim KM, Milewicz DM, Oderich GS, Ogbechie L, Promes SB, Gyang Ross E, Schermerhorn ML, Singleton Times S, Tseng EE, Wang GJ, Woo YJ; Peer Review Committee Members
Circulation 2022 Dec 13;146(24):e334-e482. Epub 2022 Nov 2 doi: 10.1161/CIR.0000000000001106. PMID: 36322642Free PMC Article

Recent clinical studies

Etiology

CELSR1 Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome.
Theis JL, Niaz T, Sundsbak RS, Fogarty ZC, Bamlet WR, Hagler DJ, Olson TM
Circ Genom Precis Med 2022 Apr;15(2):e003523. Epub 2022 Feb 8 doi: 10.1161/CIRCGEN.121.003523. PMID: 35133174
Abnormal Longitudinal Growth of the Aorta in Children with Familial Bicuspid Aortic Valve.
Nadorlik H, Bowman JL, Fitzgerald-Butt S, Mah ML, McBride KL, Kovalchin JP, Garg V
Pediatr Cardiol 2017 Dec;38(8):1709-1715. Epub 2017 Sep 25 doi: 10.1007/s00246-017-1740-4. PMID: 28948327Free PMC Article
Transforming growth factor-beta receptor type II mutation in a patient with bicuspid aortic valve disease and intraoperative aortic dissection.
Girdauskas E, Schulz S, Borger MA, Mierzwa M, Kuntze T
Ann Thorac Surg 2011 May;91(5):e70-1. doi: 10.1016/j.athoracsur.2010.12.060. PMID: 21524434
Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2).
Disabella E, Grasso M, Gambarin FI, Narula N, Dore R, Favalli V, Serio A, Antoniazzi E, Mosconi M, Pasotti M, Odero A, Arbustini E
Heart 2011 Feb;97(4):321-6. Epub 2011 Jan 6 doi: 10.1136/hrt.2010.204388. PMID: 21212136

Diagnosis

Transforming growth factor-beta receptor type II mutation in a patient with bicuspid aortic valve disease and intraoperative aortic dissection.
Girdauskas E, Schulz S, Borger MA, Mierzwa M, Kuntze T
Ann Thorac Surg 2011 May;91(5):e70-1. doi: 10.1016/j.athoracsur.2010.12.060. PMID: 21524434
Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2).
Disabella E, Grasso M, Gambarin FI, Narula N, Dore R, Favalli V, Serio A, Antoniazzi E, Mosconi M, Pasotti M, Odero A, Arbustini E
Heart 2011 Feb;97(4):321-6. Epub 2011 Jan 6 doi: 10.1136/hrt.2010.204388. PMID: 21212136

Prognosis

CELSR1 Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome.
Theis JL, Niaz T, Sundsbak RS, Fogarty ZC, Bamlet WR, Hagler DJ, Olson TM
Circ Genom Precis Med 2022 Apr;15(2):e003523. Epub 2022 Feb 8 doi: 10.1161/CIRCGEN.121.003523. PMID: 35133174
Abnormal Longitudinal Growth of the Aorta in Children with Familial Bicuspid Aortic Valve.
Nadorlik H, Bowman JL, Fitzgerald-Butt S, Mah ML, McBride KL, Kovalchin JP, Garg V
Pediatr Cardiol 2017 Dec;38(8):1709-1715. Epub 2017 Sep 25 doi: 10.1007/s00246-017-1740-4. PMID: 28948327Free PMC Article
Transforming growth factor-beta receptor type II mutation in a patient with bicuspid aortic valve disease and intraoperative aortic dissection.
Girdauskas E, Schulz S, Borger MA, Mierzwa M, Kuntze T
Ann Thorac Surg 2011 May;91(5):e70-1. doi: 10.1016/j.athoracsur.2010.12.060. PMID: 21524434

Clinical prediction guides

CELSR1 Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome.
Theis JL, Niaz T, Sundsbak RS, Fogarty ZC, Bamlet WR, Hagler DJ, Olson TM
Circ Genom Precis Med 2022 Apr;15(2):e003523. Epub 2022 Feb 8 doi: 10.1161/CIRCGEN.121.003523. PMID: 35133174
Abnormal Longitudinal Growth of the Aorta in Children with Familial Bicuspid Aortic Valve.
Nadorlik H, Bowman JL, Fitzgerald-Butt S, Mah ML, McBride KL, Kovalchin JP, Garg V
Pediatr Cardiol 2017 Dec;38(8):1709-1715. Epub 2017 Sep 25 doi: 10.1007/s00246-017-1740-4. PMID: 28948327Free PMC Article
Whole exome sequencing for familial bicuspid aortic valve identifies putative variants.
Martin LJ, Pilipenko V, Kaufman KM, Cripe L, Kottyan LC, Keddache M, Dexheimer P, Weirauch MT, Benson DW
Circ Cardiovasc Genet 2014 Oct;7(5):677-83. Epub 2014 Aug 1 doi: 10.1161/CIRCGENETICS.114.000526. PMID: 25085919
Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2).
Disabella E, Grasso M, Gambarin FI, Narula N, Dore R, Favalli V, Serio A, Antoniazzi E, Mosconi M, Pasotti M, Odero A, Arbustini E
Heart 2011 Feb;97(4):321-6. Epub 2011 Jan 6 doi: 10.1136/hrt.2010.204388. PMID: 21212136
Evidence of genetic locus heterogeneity for familial bicuspid aortic valve.
Ellison JW, Yagubyan M, Majumdar R, Sarkar G, Bolander ME, Atkinson EJ, Sarano ME, Sundt TM
J Surg Res 2007 Sep;142(1):28-31. doi: 10.1016/j.jss.2006.04.040. PMID: 17716607

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