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Aortic aneurysm, familial thoracic 2(AAT2)

MedGen UID:
335538
•Concept ID:
C1846837
•
Disease or Syndrome
Synonym: AAT2
 
Monarch Initiative: MONDO:0011770
OMIM®: 607087

Authors:
Dianna M Milewicz  |  Alana C Cecchi   view full author information

Professional guidelines

PubMed

A Retrospective Observational Study to Assess Prescription Pattern in Patients with Type B Aortic Dissection and Treatment Outcome.
Liao KM, Chen CY, Wang SH, Huang JW, Kuo CC, Huang YB
Biomed Res Int 2016;2016:5173898. Epub 2016 Aug 1 doi: 10.1155/2016/5173898. PMID: 27563668Free PMC Article

Recent clinical studies

Etiology

Genetic basis of hereditary thoracic aortic aneurysms and dissections.
Takeda N, Komuro I
J Cardiol 2019 Aug;74(2):136-143. Epub 2019 Apr 15 doi: 10.1016/j.jjcc.2019.03.014. PMID: 31000321
Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype.
Shalata A, Mahroom M, Milewicz DM, Limin G, Kassum F, Badarna K, Tarabeih N, Assy N, Fell R, Cohen H, Nashashibi M, Livoff A, Azab M, Habib G, Geiger D, Weissbrod O, Nseir W
Orphanet J Rare Dis 2018 Mar 15;13(1):41. doi: 10.1186/s13023-018-0769-7. PMID: 29544503Free PMC Article
Do Familial Aortic Dissections Tend to Occur at the Same Age?
Chou AS, Ma WG, Mok SC, Ziganshin BA, Peterss S, Rizzo JA, Tranquilli M, Elefteriades JA
Ann Thorac Surg 2017 Feb;103(2):546-550. Epub 2016 Aug 25 doi: 10.1016/j.athoracsur.2016.06.007. PMID: 27570161
Alpha-actin-2 mutations in Chinese patients with a non-syndromatic thoracic aortic aneurysm.
Ke T, Han M, Zhao M, Wang QK, Zhang H, Zhao Y, Ruan X, Li H, Xu C, Sun T
BMC Med Genet 2016 Jul 18;17(1):45. doi: 10.1186/s12881-016-0310-6. PMID: 27431987Free PMC Article
Aortic dilatation and dissection in Turner syndrome: what we know, what we are unclear about and what we should do in clinical practice?
Wong SC, Cheung M, Zacharin M
Int J Adolesc Med Health 2014;26(4):469-88. doi: 10.1515/ijamh-2013-0336. PMID: 24887949

Diagnosis

Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype.
Shalata A, Mahroom M, Milewicz DM, Limin G, Kassum F, Badarna K, Tarabeih N, Assy N, Fell R, Cohen H, Nashashibi M, Livoff A, Azab M, Habib G, Geiger D, Weissbrod O, Nseir W
Orphanet J Rare Dis 2018 Mar 15;13(1):41. doi: 10.1186/s13023-018-0769-7. PMID: 29544503Free PMC Article
Do Familial Aortic Dissections Tend to Occur at the Same Age?
Chou AS, Ma WG, Mok SC, Ziganshin BA, Peterss S, Rizzo JA, Tranquilli M, Elefteriades JA
Ann Thorac Surg 2017 Feb;103(2):546-550. Epub 2016 Aug 25 doi: 10.1016/j.athoracsur.2016.06.007. PMID: 27570161
Alpha-actin-2 mutations in Chinese patients with a non-syndromatic thoracic aortic aneurysm.
Ke T, Han M, Zhao M, Wang QK, Zhang H, Zhao Y, Ruan X, Li H, Xu C, Sun T
BMC Med Genet 2016 Jul 18;17(1):45. doi: 10.1186/s12881-016-0310-6. PMID: 27431987Free PMC Article
Genetics, Pregnancy, and Aortic Degeneration.
Crawford JD, Hsieh CM, Schenning RC, Slater MS, Landry GJ, Moneta GL, Mitchell EL
Ann Vasc Surg 2016 Jan;30:158.e5-9. Epub 2015 Sep 14 doi: 10.1016/j.avsg.2015.06.100. PMID: 26381327
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

Therapy

Thoracic Aortic Dissection Associated with Marijuana Use.
Mason EK, Gak AE, Finno JG, Cannon RD, Jacoby JL
J Emerg Med 2019 Aug;57(2):235-237. Epub 2019 May 22 doi: 10.1016/j.jemermed.2019.03.034. PMID: 31126675
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
Deficiency of MMP17/MT4-MMP proteolytic activity predisposes to aortic aneurysm in mice.
Martín-Alonso M, García-Redondo AB, Guo D, Camafeita E, Martínez F, Alfranca A, Méndez-Barbero N, Pollán Á, Sánchez-Camacho C, Denhardt DT, Seiki M, Vázquez J, Salaices M, Redondo JM, Milewicz D, Arroyo AG
Circ Res 2015 Jul 3;117(2):e13-26. Epub 2015 May 11 doi: 10.1161/CIRCRESAHA.117.305108. PMID: 25963716
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

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
Do Familial Aortic Dissections Tend to Occur at the Same Age?
Chou AS, Ma WG, Mok SC, Ziganshin BA, Peterss S, Rizzo JA, Tranquilli M, Elefteriades JA
Ann Thorac Surg 2017 Feb;103(2):546-550. Epub 2016 Aug 25 doi: 10.1016/j.athoracsur.2016.06.007. PMID: 27570161
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
Marfan syndrome, inherited aortopathies and exercise: What is the right answer?
Cheng A, Owens D
Br J Sports Med 2016 Jan;50(2):100-4. doi: 10.1136/bjsports-2014-306440rep. PMID: 26729892
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 prediction guides

Do Familial Aortic Dissections Tend to Occur at the Same Age?
Chou AS, Ma WG, Mok SC, Ziganshin BA, Peterss S, Rizzo JA, Tranquilli M, Elefteriades JA
Ann Thorac Surg 2017 Feb;103(2):546-550. Epub 2016 Aug 25 doi: 10.1016/j.athoracsur.2016.06.007. PMID: 27570161
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
Identification of three particular morphological phenotypes in sporadic thoracic aortic aneurysm: phenotype III as sporadic thoracic aortic aneurysm biomarker in aged individuals.
Balistreri CR, Maresi E, Pisano C, Di Maggio FM, Vaccarino L, Caruso C, Lio D, Ruvolo G, Candore G
Rejuvenation Res 2014 Apr;17(2):192-6. Epub 2014 Apr 8 doi: 10.1089/rej.2013.1505. PMID: 24066724

Recent systematic reviews

Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.
Mariscalco G, Debiec R, Elefteriades JA, Samani NJ, Murphy GJ
J Am Heart Assoc 2018 Aug 7;7(15):e009302. doi: 10.1161/JAHA.118.009302. PMID: 30371227Free PMC Article

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