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Aortic aneurysm, familial thoracic 8(AAT8)

MedGen UID:
815843
•Concept ID:
C3809513
•
Disease or Syndrome
Synonym: AAT8
 
Gene (location): PRKG1 (10q11.23-21.1)
 
Monarch Initiative: MONDO:0014187
OMIM®: 615436

Definition

Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene. [from MONDO]

Clinical features

From HPO
Coronary aneurysm
MedGen UID:
3622
•Concept ID:
C0010051
•
Disease or Syndrome
Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel.
See: Feature record | Search on this feature
Abdominal aortic aneurysm
MedGen UID:
56524
•Concept ID:
C0162871
•
Anatomical Abnormality
An abnormal localized widening (dilatation) of the abdominal aorta.
See: Feature record | Search on this feature
Coronary artery dissection
MedGen UID:
881843
•Concept ID:
C0340648
•
Disease or Syndrome
Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery.
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
Descending aortic dissection
MedGen UID:
868484
•Concept ID:
C4022878
•
Disease or Syndrome
A separation of the layers within the wall of the descending 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

Preventing Acute Aortic Dissections: The Power of Familial Screening and Risk Assessment.
Cecchi AC, Boerio ML, Marin I, Pinard A, Milewicz DM
J Am Heart Assoc 2022 Apr 19;11(8):e025441. Epub 2022 Apr 6 doi: 10.1161/JAHA.122.025441. PMID: 35383462Free PMC Article
Cardiogenetics: genetic testing in the diagnosis and management of patients with aortic disease.
Thakker PD, Braverman AC
Heart 2021 Apr;107(8):619-626. Epub 2020 Dec 17 doi: 10.1136/heartjnl-2020-317036. PMID: 33334864
Aortopathies: etiologies, genetics, differential diagnosis, prognosis and management.
Paterick TE, Humphries JA, Ammar KA, Jan MF, Loberg R, Bush M, Khandheria BK, Tajik AJ
Am J Med 2013 Aug;126(8):670-8. Epub 2013 Jun 22 doi: 10.1016/j.amjmed.2013.01.029. PMID: 23800581

Recent clinical studies

Etiology

A case of aortic root replacement for annuloaortic ectasia due to Takayasu's arteritis in active inflammatory phase.
Mikami T, Shiiku C, Numaguchi R, Nishikawa M, Oikawa T, Yoshida I
Asian Cardiovasc Thorac Ann 2023 Oct;31(8):731-734. Epub 2023 Aug 29 doi: 10.1177/02184923231198568. PMID: 37644797
Predictors and Rate of Progression of Aortic Root and Ascending Aorta Dilatation.
Eswarsingh A, Bose A, Islam T, Venkataramanan SVA, Muthyala A, Shah SH, Manohar SA, Rupendu S, Shah NS
Am J Cardiol 2022 Oct 15;181:118-121. Epub 2022 Aug 18 doi: 10.1016/j.amjcard.2022.06.032. PMID: 35987908
Aortic Size and Clinical Care Pathways Before Type A Aortic Dissection.
Johnson DY, Cavalcante J, Schmidt C, Thomas K, Garberich R, Pavlovec M, Mudy K, Bradley SM, Harris KM
Am J Cardiol 2022 Jan 15;163:104-108. Epub 2021 Nov 30 doi: 10.1016/j.amjcard.2021.09.041. PMID: 34862003
Giant ascending aortic aneurysm after aortic valve replacement.
Dregoesc MI, Trifan CA, Encica S, Halloumi W, Iancu AC
J Card Surg 2020 Aug;35(8):2033-2034. Epub 2020 Jul 11 doi: 10.1111/jocs.14755. PMID: 32652657
Thoracic aortic aneurysm: unlocking the "silent killer" secrets.
Saeyeldin AA, Velasquez CA, Mahmood SUB, Brownstein AJ, Zafar MA, Ziganshin BA, Elefteriades JA
Gen Thorac Cardiovasc Surg 2019 Jan;67(1):1-11. Epub 2017 Dec 4 doi: 10.1007/s11748-017-0874-x. PMID: 29204794

Diagnosis

Similarity of aortic events between siblings with heritable thoracic aortic diseases: Clinical analysis focusing on identical twins and same-sex siblings.
Yagyu T, Ida K, Noguchi T
Am J Med Genet A 2024 Aug;194(8):e63632. Epub 2024 Apr 15 doi: 10.1002/ajmg.a.63632. PMID: 38619088
Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.
Yagyu T, Noguchi T, Asano Y, Ida K, Ogata S, Nishimura K, Matsuda H
J Am Heart Assoc 2023 Apr 18;12(8):e028625. Epub 2023 Apr 12 doi: 10.1161/JAHA.122.028625. PMID: 37042257Free PMC Article
Predictors and Rate of Progression of Aortic Root and Ascending Aorta Dilatation.
Eswarsingh A, Bose A, Islam T, Venkataramanan SVA, Muthyala A, Shah SH, Manohar SA, Rupendu S, Shah NS
Am J Cardiol 2022 Oct 15;181:118-121. Epub 2022 Aug 18 doi: 10.1016/j.amjcard.2022.06.032. PMID: 35987908
Thoracic aortic aneurysm: unlocking the "silent killer" secrets.
Saeyeldin AA, Velasquez CA, Mahmood SUB, Brownstein AJ, Zafar MA, Ziganshin BA, Elefteriades JA
Gen Thorac Cardiovasc Surg 2019 Jan;67(1):1-11. Epub 2017 Dec 4 doi: 10.1007/s11748-017-0874-x. PMID: 29204794
Multidisciplinary Aortopathy Clinics Should Now Be the Standard of Care in Canada.
Bradley TJ, Bowdin SC
Can J Cardiol 2016 Jan;32(1):8-12. Epub 2015 Oct 22 doi: 10.1016/j.cjca.2015.10.003. PMID: 26621141

Therapy

Natural history and growth rates of isolated common iliac artery aneurysms.
Steenberge SP, Caputo FJ, Rowse JW, Lyden SP, Quatromoni JG, Kirksey L, Smolock CJ
J Vasc Surg 2022 Aug;76(2):461-465. Epub 2022 Jan 24 doi: 10.1016/j.jvs.2022.01.022. PMID: 35085749
Clinical outcome of acute thoracic aortic syndrome in nonagenarians.
Arakawa M, Okamura H, Miyagawa A, Kitada Y, Adachi H
Asian Cardiovasc Thorac Ann 2020 Nov;28(9):577-582. Epub 2020 Aug 20 doi: 10.1177/0218492320952654. PMID: 32819152
Frozen elephant trunk with straight vascular prosthesis: single-center experience with a review of current trends.
Jakob H, Moughal S, Bashir M
J Cardiovasc Surg (Torino) 2020 Jun;61(3):301-307. Epub 2020 Apr 27 doi: 10.23736/S0021-9509.20.11401-0. PMID: 32337941
Incidence, Management, and Immediate- and Long-Term Outcomes After Iatrogenic Aortic Dissection During Diagnostic or Interventional Coronary Procedures.
Núñez-Gil IJ, Bautista D, Cerrato E, Salinas P, Varbella F, Omedè P, Ugo F, Ielasi A, Giammaria M, Moreno R, Pérez-Vizcayno MJ, Escaned J, De Agustin JA, Feltes G, Macaya C, Fernández-Ortiz A; Registry on Aortic Iatrogenic Dissection (RAID) Investigators
Circulation 2015 Jun 16;131(24):2114-9. Epub 2015 Apr 17 doi: 10.1161/CIRCULATIONAHA.115.015334. PMID: 25888682
Familial patterns of thoracic aortic aneurysms.
Coady MA, Davies RR, Roberts M, Goldstein LJ, Rogalski MJ, Rizzo JA, Hammond GL, Kopf GS, Elefteriades JA
Arch Surg 1999 Apr;134(4):361-7. doi: 10.1001/archsurg.134.4.361. PMID: 10199307

Prognosis

Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.
Yagyu T, Noguchi T, Asano Y, Ida K, Ogata S, Nishimura K, Matsuda H
J Am Heart Assoc 2023 Apr 18;12(8):e028625. Epub 2023 Apr 12 doi: 10.1161/JAHA.122.028625. PMID: 37042257Free PMC Article
Predictors and Rate of Progression of Aortic Root and Ascending Aorta Dilatation.
Eswarsingh A, Bose A, Islam T, Venkataramanan SVA, Muthyala A, Shah SH, Manohar SA, Rupendu S, Shah NS
Am J Cardiol 2022 Oct 15;181:118-121. Epub 2022 Aug 18 doi: 10.1016/j.amjcard.2022.06.032. PMID: 35987908
Characterization of syndromic, nonsyndromic familial, and sporadic type B aortic dissection.
Shalhub S, Rah JY, Campbell R, Sweet MP, Quiroga E, Starnes BW
J Vasc Surg 2021 Jun;73(6):1906-1914.e2. Epub 2020 Nov 27 doi: 10.1016/j.jvs.2020.10.080. PMID: 33249204
Thoracic aortic aneurysm: unlocking the "silent killer" secrets.
Saeyeldin AA, Velasquez CA, Mahmood SUB, Brownstein AJ, Zafar MA, Ziganshin BA, Elefteriades JA
Gen Thorac Cardiovasc Surg 2019 Jan;67(1):1-11. Epub 2017 Dec 4 doi: 10.1007/s11748-017-0874-x. PMID: 29204794
Multidisciplinary Aortopathy Clinics Should Now Be the Standard of Care in Canada.
Bradley TJ, Bowdin SC
Can J Cardiol 2016 Jan;32(1):8-12. Epub 2015 Oct 22 doi: 10.1016/j.cjca.2015.10.003. PMID: 26621141

Clinical prediction guides

Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.
Asokan KL, Landes JR, Renders W, Muiño Mosquera L, De Backer J, Jantzen DW, Yetman AT, Teixido-Tura G, Evangelista A, Jeremy R, Jones EG, Morris S, Doan T, Ouzonian M, Braverman A, Jondeau G, Milleron O, Milewicz DM, Prakash SK; Montalcino Aortic Consortium *
J Am Heart Assoc 2024 Nov 5;13(21):e036274. Epub 2024 Oct 18 doi: 10.1161/JAHA.124.036274. PMID: 39424426
Predictors and Rate of Progression of Aortic Root and Ascending Aorta Dilatation.
Eswarsingh A, Bose A, Islam T, Venkataramanan SVA, Muthyala A, Shah SH, Manohar SA, Rupendu S, Shah NS
Am J Cardiol 2022 Oct 15;181:118-121. Epub 2022 Aug 18 doi: 10.1016/j.amjcard.2022.06.032. PMID: 35987908
Thoracic aortic aneurysm: unlocking the "silent killer" secrets.
Saeyeldin AA, Velasquez CA, Mahmood SUB, Brownstein AJ, Zafar MA, Ziganshin BA, Elefteriades JA
Gen Thorac Cardiovasc Surg 2019 Jan;67(1):1-11. Epub 2017 Dec 4 doi: 10.1007/s11748-017-0874-x. PMID: 29204794
Matrix metalloproteinase family polymorphisms and the risk of aortic aneurysmal diseases: A systematic review and meta-analysis.
Li T, Lv Z, Jing JJ, Yang J, Yuan Y
Clin Genet 2018 Jan;93(1):15-32. Epub 2017 Jul 18 doi: 10.1111/cge.13050. PMID: 28485889
The paradoxical TGF-β vasculopathies.
Akhurst RJ
Nat Genet 2012 Jul 27;44(8):838-9. doi: 10.1038/ng.2366. PMID: 22836090Free PMC Article

Recent systematic reviews

The many faces of IgG4-related disease: report of a case with inaugural recurrent aortic aneurism ruptures and literature review.
Luís M, Brites L, Fernandes B, Jesus D, Santiago T, Serra S, Rovisco J, Carvalho L, da Silva JAP, Malcata A
Rheumatol Int 2018 Aug;38(8):1565-1570. Epub 2018 May 12 doi: 10.1007/s00296-018-4046-9. PMID: 29754327
Matrix metalloproteinase family polymorphisms and the risk of aortic aneurysmal diseases: A systematic review and meta-analysis.
Li T, Lv Z, Jing JJ, Yang J, Yuan Y
Clin Genet 2018 Jan;93(1):15-32. Epub 2017 Jul 18 doi: 10.1111/cge.13050. PMID: 28485889

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