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Rare disease with thoracic aortic aneurysm and aortic dissection

MedGen UID:
1842850
Concept ID:
C5681014
Disease or Syndrome
Orphanet: ORPHA285014

Professional guidelines

PubMed

Chen X, Bai M, Sun S, Chen X
Ren Fail 2021 Dec;43(1):585-596. doi: 10.1080/0886022X.2021.1905664. PMID: 33784934Free PMC Article
De Backer J, Jondeau G, Boileau C
Curr Opin Cardiol 2019 Nov;34(6):585-593. doi: 10.1097/HCO.0000000000000669. PMID: 31397689
Booher AM, Eagle KA
Am Heart J 2011 Jul;162(1):38-46.e1. Epub 2011 Jun 15 doi: 10.1016/j.ahj.2011.04.010. PMID: 21742088

Recent clinical studies

Etiology

Klarin D, Devineni P, Sendamarai AK, Angueira AR, Graham SE, Shen YH, Levin MG, Pirruccello JP, Surakka I, Karnam PR, Roychowdhury T, Li Y, Wang M, Aragam KG, Paruchuri K, Zuber V, Shakt GE, Tsao NL, Judy RL, Vy HMT, Verma SS, Rader DJ, Do R, Bavaria JE, Nadkarni GN, Ritchie MD; VA Million Veteran Program, Burgess S, Guo DC, Ellinor PT, LeMaire SA, Milewicz DM, Willer CJ, Natarajan P, Tsao PS, Pyarajan S, Damrauer SM
Nat Genet 2023 Jul;55(7):1106-1115. Epub 2023 Jun 12 doi: 10.1038/s41588-023-01420-z. PMID: 37308786Free PMC Article
Regalado ES, Morris SA, Braverman AC, Hostetler EM, De Backer J, Li R, Pyeritz RE, Yetman AT, Cervi E, Shalhub S, Jeremy R, LeMaire S, Ouzounian M, Evangelista A, Boileau C, Jondeau G, Milewicz DM
J Am Coll Cardiol 2022 Aug 30;80(9):857-869. doi: 10.1016/j.jacc.2022.05.054. PMID: 36007983
Braverman AC, Mittauer E, Harris KM, Evangelista A, Pyeritz RE, Brinster D, Conklin L, Suzuki T, Fanola C, Ouzounian M, Chen E, Myrmel T, Bekeredjian R, Hutchison S, Coselli J, Gilon D, O'Gara P, Davis M, Isselbacher E, Eagle K
JAMA Cardiol 2021 Jan 1;6(1):58-66. doi: 10.1001/jamacardio.2020.4876. PMID: 33052376Free PMC Article
Gawinecka J, Schönrath F, von Eckardstein A
Swiss Med Wkly 2017;147:w14489. Epub 2017 Aug 25 doi: 10.4414/smw.2017.14489. PMID: 28871571
Forsey JT, Elmasry OA, Martin RP
Orphanet J Rare Dis 2009 Jul 10;4:17. doi: 10.1186/1750-1172-4-17. PMID: 19591690Free PMC Article

Diagnosis

Ouzounian M, Tadros RO, Svensson LG, Lyden SP, Oderich GS, Coselli JS
J Am Coll Cardiol 2022 Aug 23;80(8):845-856. doi: 10.1016/j.jacc.2021.05.056. PMID: 35981828
Braverman AC, Mittauer E, Harris KM, Evangelista A, Pyeritz RE, Brinster D, Conklin L, Suzuki T, Fanola C, Ouzounian M, Chen E, Myrmel T, Bekeredjian R, Hutchison S, Coselli J, Gilon D, O'Gara P, Davis M, Isselbacher E, Eagle K
JAMA Cardiol 2021 Jan 1;6(1):58-66. doi: 10.1001/jamacardio.2020.4876. PMID: 33052376Free PMC Article
Gawinecka J, Schönrath F, von Eckardstein A
Swiss Med Wkly 2017;147:w14489. Epub 2017 Aug 25 doi: 10.4414/smw.2017.14489. PMID: 28871571
Forsey JT, Elmasry OA, Martin RP
Orphanet J Rare Dis 2009 Jul 10;4:17. doi: 10.1186/1750-1172-4-17. PMID: 19591690Free PMC Article
Ponraj P, Pepper J
Br J Clin Pract 1992 Summer;46(2):127-31. PMID: 1457300

Therapy

Ashwat E, Ahmad D, Sá MP, Jackson A, Brown JA, Serna-Gallegos D, West D, Sultan I
Am J Cardiol 2024 Jul 1;222:108-112. Epub 2024 May 14 doi: 10.1016/j.amjcard.2024.04.059. PMID: 38750948
Spratt JR, Walker KL, Neal D, Arnaoutakis GJ, Martin TD, Back MR, Zasimovich Y, Franklin M, Shahid Z, Upchurch GR Jr, Scali ST, Beaver TM
J Thorac Cardiovasc Surg 2024 Jul;168(1):15-25.e11. Epub 2022 Nov 5 doi: 10.1016/j.jtcvs.2022.10.045. PMID: 36509568
Bashir M, Tan SZ, Jubouri M, Coselli J, Chen EP, Mohammed I, Velayudhan B, Sadeghipour P, Nienaber C, Awad WI, Slisatkorn W, Wong R, Piffaretti G, Mariscalco G, Bailey DM, Williams I
Ann Vasc Surg 2023 Aug;94:92-101. Epub 2023 Apr 17 doi: 10.1016/j.avsg.2023.04.006. PMID: 37075834
Li M, Langlois N, Byard RW
J Forensic Leg Med 2013 Jul;20(5):395-8. Epub 2012 Aug 22 doi: 10.1016/j.jflm.2012.07.008. PMID: 23756504
Booher AM, Eagle KA
Am Heart J 2011 Jul;162(1):38-46.e1. Epub 2011 Jun 15 doi: 10.1016/j.ahj.2011.04.010. PMID: 21742088

Prognosis

Braverman AC, Mittauer E, Harris KM, Evangelista A, Pyeritz RE, Brinster D, Conklin L, Suzuki T, Fanola C, Ouzounian M, Chen E, Myrmel T, Bekeredjian R, Hutchison S, Coselli J, Gilon D, O'Gara P, Davis M, Isselbacher E, Eagle K
JAMA Cardiol 2021 Jan 1;6(1):58-66. doi: 10.1001/jamacardio.2020.4876. PMID: 33052376Free PMC Article
De Backer J, Renard M, Campens L, Mosquera LM, De Paepe A, Coucke P, Callewaert B, Kodolitsch Yv
Curr Pharm Des 2015;21(28):4061-75. doi: 10.2174/1381612821666150826093152. PMID: 26306841
Morse BC, Boland BN, Morse JN, Jones YR, Simpson JP, Appleby DA, Davis BR, Taylor SM
Am Surg 2014 Mar;80(3):E79-81. PMID: 24666850
Forsey JT, Elmasry OA, Martin RP
Orphanet J Rare Dis 2009 Jul 10;4:17. doi: 10.1186/1750-1172-4-17. PMID: 19591690Free PMC Article
Ponraj P, Pepper J
Br J Clin Pract 1992 Summer;46(2):127-31. PMID: 1457300

Clinical prediction guides

He Z, IJpma AS, Vreeken D, Heijsman D, Rosier K, Verhagen HJM, de Bruin JL, Brüggenwirth HT, Roos-Hesselink JW, Bekkers JA, Huylebroeck DFE, van Beusekom HMM, Creemers JWM, Majoor-Krakauer D
Cardiovasc Res 2024 Dec 31;120(17):2278-2292. doi: 10.1093/cvr/cvae078. PMID: 38636100Free PMC Article
Pirruccello JP, Chaffin MD, Chou EL, Fleming SJ, Lin H, Nekoui M, Khurshid S, Friedman SF, Bick AG, Arduini A, Weng LC, Choi SH, Akkad AD, Batra P, Tucker NR, Hall AW, Roselli C, Benjamin EJ, Vellarikkal SK, Gupta RM, Stegmann CM, Juric D, Stone JR, Vasan RS, Ho JE, Hoffmann U, Lubitz SA, Philippakis AA, Lindsay ME, Ellinor PT
Nat Genet 2022 Jan;54(1):40-51. Epub 2021 Nov 26 doi: 10.1038/s41588-021-00962-4. PMID: 34837083Free PMC Article
Rurali E, Perrucci GL, Pilato CA, Pini A, Gaetano R, Nigro P, Pompilio G
Prog Cardiovasc Dis 2018 Sep-Oct;61(3-4):328-335. Epub 2018 Jul 21 doi: 10.1016/j.pcad.2018.07.020. PMID: 30041021
Elefteriades JA, Ziganshin BA, Rizzo JA, Fang H, Tranquilli M, Paruchuri V, Kuzmik G, Gubernikoff G, Dumfarth J, Charilaou P, Theodoropoulos P
J Thorac Cardiovasc Surg 2015 Feb;149(2 Suppl):S10-3. Epub 2014 Aug 4 doi: 10.1016/j.jtcvs.2014.07.066. PMID: 25218531
Jain A, Tracci MC, Coleman DM, Cherry KJ, Upchurch GR Jr
Semin Vasc Surg 2013 Dec;26(4):178-88. Epub 2014 Jun 12 doi: 10.1053/j.semvascsurg.2014.06.004. PMID: 25220324

Recent systematic reviews

Cotão T, Sousa J, Mansilha A
Int Angiol 2024 Aug;43(4):411-420. Epub 2024 Sep 18 doi: 10.23736/S0392-9590.24.05279-9. PMID: 39292017
Fan W, Tan J, Shi W, Rong J, Yu B
Med Sci Monit 2021 Mar 23;27:e930031. doi: 10.12659/MSM.930031. PMID: 33755659Free PMC Article
Velvin G, Wilhelmsen JE, Johansen H, Bathen T, Geirdal AØ
Clin Genet 2019 Jun;95(6):661-676. Epub 2019 Apr 2 doi: 10.1111/cge.13522. PMID: 30788842
Janik M, Straka L, Krajcovic J, Hejna P, Hamzik J, Novomesky F
Forensic Sci Int 2014 Mar;236:22-9. Epub 2013 Dec 25 doi: 10.1016/j.forsciint.2013.12.013. PMID: 24529771

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