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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

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

Ventricular-Vascular Coupling in Marfan and Non-Marfan Aortopathies.
Loeper F, Oosterhof J, van den Dorpel M, van der Linde D, Lu Y, Robertson E, Hambly B, Jeremy R
J Am Heart Assoc 2016 Nov 16;5(11) doi: 10.1161/JAHA.116.003705. PMID: 27852591Free PMC Article
Familial non-syndromal thoracic aortic aneurysms and dissections - Incidence and family screening outcomes.
Robertson EN, van der Linde D, Sherrah AG, Vallely MP, Wilson M, Bannon PG, Jeremy RW
Int J Cardiol 2016 Oct 1;220:43-51. Epub 2016 Jun 23 doi: 10.1016/j.ijcard.2016.06.086. PMID: 27372041
Novel findings: Expression of angiotensin-converting enzyme and angiotensin-converting enzyme 2 in thoracic aortic dissection and aneurysm.
Li Y, Hu J, Qian H, Gu J, Meng W, Zhang EY
J Renin Angiotensin Aldosterone Syst 2015 Dec;16(4):1130-4. Epub 2014 Sep 17 doi: 10.1177/1470320314549219. PMID: 25237166
Proteomic study of the microdissected aortic media in human thoracic aortic aneurysms.
Serhatli M, Baysal K, Acilan C, Tuncer E, Bekpinar S, Baykal AT
J Proteome Res 2014 Nov 7;13(11):5071-80. Epub 2014 Sep 29 doi: 10.1021/pr5006586. PMID: 25264617
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

Diagnosis

Clinical outcomes of aortic repair in young adult patients with ACTA2 mutations.
Seike Y, Minatoya K, Sasaki H, Tanaka H, Itonaga T, Inoue Y, Morisaki H, Morisaki T, Ishibashi-Ueda H, Kobayashi J
Gen Thorac Cardiovasc Surg 2017 Dec;65(12):686-691. Epub 2017 Aug 14 doi: 10.1007/s11748-017-0810-0. PMID: 28808903
Familial non-syndromal thoracic aortic aneurysms and dissections - Incidence and family screening outcomes.
Robertson EN, van der Linde D, Sherrah AG, Vallely MP, Wilson M, Bannon PG, Jeremy RW
Int J Cardiol 2016 Oct 1;220:43-51. Epub 2016 Jun 23 doi: 10.1016/j.ijcard.2016.06.086. PMID: 27372041
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
Identification and surgical repair of familial thoracic aortic aneurysm and dissection caused by TGFBR1 mutation.
Dong SB, Zheng J, Ma WG, Chen MJ, Cheng LJ, He L, Xing QH, Sun LZ
Ann Vasc Surg 2014 Nov;28(8):1909-12. Epub 2014 Aug 7 doi: 10.1016/j.avsg.2014.07.013. PMID: 25110237
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

Therapy

Valve-Sparing Root Replacement in Elderly Patients With Annuloaortic Ectasia.
Yokawa K, Ikeno Y, Koda Y, Henmi S, Matsueda T, Takahashi H, Nakai H, Yamanaka K, Gotake Y, Tanaka H, Okita Y
Ann Thorac Surg 2019 May;107(5):1342-1347. Epub 2018 Dec 7 doi: 10.1016/j.athoracsur.2018.10.075. PMID: 30529676
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
Ventricular-Vascular Coupling in Marfan and Non-Marfan Aortopathies.
Loeper F, Oosterhof J, van den Dorpel M, van der Linde D, Lu Y, Robertson E, Hambly B, Jeremy R
J Am Heart Assoc 2016 Nov 16;5(11) doi: 10.1161/JAHA.116.003705. PMID: 27852591Free PMC Article
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
Clinical experience with the Bentall procedure: 28 years.
Joo HC, Chang BC, Youn YN, Yoo KJ, Lee S
Yonsei Med J 2012 Sep;53(5):915-23. doi: 10.3349/ymj.2012.53.5.915. PMID: 22869473Free PMC Article

Prognosis

Valve-Sparing Root Replacement in Elderly Patients With Annuloaortic Ectasia.
Yokawa K, Ikeno Y, Koda Y, Henmi S, Matsueda T, Takahashi H, Nakai H, Yamanaka K, Gotake Y, Tanaka H, Okita Y
Ann Thorac Surg 2019 May;107(5):1342-1347. Epub 2018 Dec 7 doi: 10.1016/j.athoracsur.2018.10.075. PMID: 30529676
Ventricular-Vascular Coupling in Marfan and Non-Marfan Aortopathies.
Loeper F, Oosterhof J, van den Dorpel M, van der Linde D, Lu Y, Robertson E, Hambly B, Jeremy R
J Am Heart Assoc 2016 Nov 16;5(11) doi: 10.1161/JAHA.116.003705. PMID: 27852591Free PMC Article
Familial non-syndromal thoracic aortic aneurysms and dissections - Incidence and family screening outcomes.
Robertson EN, van der Linde D, Sherrah AG, Vallely MP, Wilson M, Bannon PG, Jeremy RW
Int J Cardiol 2016 Oct 1;220:43-51. Epub 2016 Jun 23 doi: 10.1016/j.ijcard.2016.06.086. PMID: 27372041
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
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

Clinical prediction guides

The effects of acute and elective cardiac surgery on the anxiety traits of patients with Marfan syndrome.
Benke K, Ágg B, Pólos M, Sayour AA, Radovits T, Bartha E, Nagy P, Rákóczi B, Koller Á, Szokolai V, Hedberg J, Merkely B, Nagy ZB, Szabolcs Z
BMC Psychiatry 2017 Jul 17;17(1):253. doi: 10.1186/s12888-017-1417-9. PMID: 28716062Free PMC Article
C-reactive protein, not cardiac troponin T, improves risk prediction in hypertensives with type A aortic dissection.
Vrsalovic M, Zeljkovic I, Presecki AV, Pintaric H, Kruslin B
Blood Press 2015;24(4):212-6. Epub 2015 May 2 doi: 10.3109/08037051.2015.1025607. PMID: 25936403
Novel findings: Expression of angiotensin-converting enzyme and angiotensin-converting enzyme 2 in thoracic aortic dissection and aneurysm.
Li Y, Hu J, Qian H, Gu J, Meng W, Zhang EY
J Renin Angiotensin Aldosterone Syst 2015 Dec;16(4):1130-4. Epub 2014 Sep 17 doi: 10.1177/1470320314549219. PMID: 25237166
Identification and surgical repair of familial thoracic aortic aneurysm and dissection caused by TGFBR1 mutation.
Dong SB, Zheng J, Ma WG, Chen MJ, Cheng LJ, He L, Xing QH, Sun LZ
Ann Vasc Surg 2014 Nov;28(8):1909-12. Epub 2014 Aug 7 doi: 10.1016/j.avsg.2014.07.013. PMID: 25110237
Replacement of the aortic root with a composite valve-graft conduit: risk factor analysis in 246 consecutive patients.
Woldendorp K, Starra E, Seco M, Hendel PN, Jeremy RW, Wilson MK, Vallely MP, Bannon PG
Heart Lung Circ 2014 Dec;23(12):1187-93. Epub 2014 Jun 26 doi: 10.1016/j.hlc.2014.06.004. PMID: 25038031

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

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