1. bookVolume 1 (2017): Issue s2 (December 2017)
    MAGI group activity - Research, diagnosis and treatment of genetic and rare diseases
Journal Details
License
Format
Journal
eISSN
2564-615X
First Published
30 Jan 2017
Publication timeframe
4 times per year
Languages
English
access type Open Access

Familial aneurysms of great vessels in young people

Published Online: 28 Dec 2017
Volume & Issue: Volume 1 (2017) - Issue s2 (December 2017) - MAGI group activity - Research, diagnosis and treatment of genetic and rare diseases
Page range: 119 - 121
Journal Details
License
Format
Journal
eISSN
2564-615X
First Published
30 Jan 2017
Publication timeframe
4 times per year
Languages
English
Abstract

The major structural proteins of the vascular wall are collagen and elastin. Genetic connective tissue diseases lead to degeneration, aneurysms and spontaneous dissection or rupture of arteries. The best-known are Marfan syndrome, vascular Ehlers-Danlos syndrome (type IV), Loeys-Dietz syndrome and familial aortic aneurysms and dissections. Objective. This review addresses the current status of endovascular treatment options for major connective tissue diseases. The treatment of choice for patients who are mostly affected at a young age is primarily conservative or open repair. There is only limited evidence in favour of endovascular aortic repair (EVAR) of abdominal aneurysms or thoracic endovascular aortic repair (TEVAR) because disease progression and dilation leads to secondary endoleaks and high reintervention rates with uncertain long-term results. There is therefore consensus that EVAR and TEVAR should be limited to exceptional cases and emergency situations in patients with genetic aortic diseases.

Keywords

1. Groth KA, Stochholm K, Hove H, Kyhl K, Gregersen PA, Vejlstrup N, Østergaard JR, Gravholt CH, Andersen NH. Aortic events in a nationwide Marfan syndrome cohort. Clin Res Cardiol. 2017 Feb;106(2):105-112.10.1007/s00392-016-1028-3Search in Google Scholar

2. Amato B, Compagna R, Amato M, Grande R, Butrico L, Rossi A, Naso A, Ruggiero M, de Franciscis S, Serra R. Adult vascular wall resident multipotent vascular stem cells, matrix metalloproteinases, and arterial aneurysms. Stem Cells Int. 2015;2015:434962.10.1155/2015/434962Search in Google Scholar

3. Preventza O, Mohammed S, Cheong BY, Gonzalez L, Ouzounian M, Livesay JJ, Cooley DA, Coselli JS. Endovascular therapy in patients with genetically triggered thoracic aortic disease: applications and short- and mid-term outcomes. Eur J Cardiothorac Surg. 2014 Aug;46(2):248-5310.1093/ejcts/ezt636Open DOISearch in Google Scholar

4. Serra R, Butrico L, Grande R, Placida GD, Rubino P, Settimio UF, Quarto G, Amato M, Furino E, Compagna R, Amato B, Gallelli L, de Franciscis S. Venous aneurysm complicating arteriovenous fistula access and matrix metalloproteinases. Open Med (Wars). 2015 Dec 17;10(1):519-522.10.1515/med-2015-0088Search in Google Scholar

5. Johns N, Jamieson RW, Ceresa C, Moores C, Nimmo AF, Falah O, Burns PJ, Chalmers RT. Contemporary outcomes of open repair of thoracoabdominal aortic aneurysm in young patients. J Cardiothorac Surg. 2014 Dec 10;9:195.10.1186/s13019-014-0195-4Open DOISearch in Google Scholar

6. De Caridi G, Massara M, Spinelli F, Grande R, Butrico L, Rende P, Amato M, Compagna R, Amato B, de Franciscis S, Serra R. An uncommon case of arterial aneurysms association with high plasma levels of matrix metalloproteinase-9 and neutrophil gelatinase-associated lipocalin. Open Med (Wars). 2015 Dec 17;10(1):492-497.10.1515/med-2015-0083Search in Google Scholar

7. Amato B, Esposito G, Serra R, Compagna R, Vigliotti G, Bianco T, Massa G, Amato M, Massa S, Aprea G. One-step mini-invasive treatment of abdominal aortic-iliac aneurysm associated with colo- rectal cancer. Int J Surg. 2014;12 Suppl 2:S193-S196.10.1016/j.ijsu.2014.08.343Search in Google Scholar

8. Mannacio V, Mottola M, Ruggiero D, D’Alessio A, Surace GG, Di Tommaso E, Amato B, Iannelli G. Treatment of a rapidly expanding thoracoabdominal aortic aneurysm after endovascular repair of descending thoracic aortic aneurysm in an old patient. BMC Surg. 2012;12 Suppl 1:S26.10.1186/1471-2482-12-S1-S26Search in Google Scholar

9. Giugliano G, Laurenzano E, Rengo C, De Rosa G, Brevetti L, Sanni no A, Perrino C, Chiariotti L, Schiattarella GG, Serino F, Ferrone M, Scudiero F, Carbone A, Sorropago A, Amato B, Trimarco B, Esposito G. Abdominal aortic aneurysm in patients affected by intermittent claudication: prevalence and clinical predictors. BMC Surg. 2012;12 Suppl 1:S17.10.1186/1471-2482-12-S1-S17Search in Google Scholar

10. Romano M, Mainenti PP, Imbriaco M, Amato B, Markabaoui K, Tamburrini O, Salvatore M. Multidetector row CT angiography of the abdominal aorta and lower extremities in patients with peripheral arterial occlusive disease: diagnostic accuracy and interobserver agreement. Eur J Radiol. 2004 Jun;50(3):303-8.10.1016/S0720-048X(03)00118-9Search in Google Scholar

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