Peri-vascular adipose tissue attenuation on chest computed tomography in patients with Marfan Syndrome: a case series.

Main Article Content

Domenico Tuttolomondo
Massimo De Filippo
Daniele Sartorio
Francesco Nicolini
Giampaolo Niccoli
Nicola Gaibazzi

Keywords

Marfan syndrome, Peri-vascular adipose tissue attenuation, Computed tomography, Aorta, Fibrillin-1 gene mutation

Abstract

Background and aim of the work. Marfan Syndrome is a genetic disorder that determines histopathological alterations of the aortic vascular wall leading to increased inflammatory component. The peri-vascular adipose tissue attenuation is a method able to capture localized vascular inflammation by mapping spatial changes of perivascular tissue attenuation on computed tomography.


Methods. We measured peri-vascular adipose tissue attenuation around the ascending aorta in three consecutive subjects with confirmed genetic diagnosis of Marfan Syndrome. All subjects received the genetic diagnosis of fibrillin-1 gene mutation as part of the family screening of patients with known Marfan Syndrome. Chest computed tomography was performed in such asymptomatic subjects after genetic confirmation of Marfan Syndrome. None of these subjects showed aortic aneurysms or suffered from chronic inflammatory/infectious disease.
Results. In the three subjects identified with Marfan Syndrome the value of aortic peri-vascular adipose tissue attenuation measured at chest computed tomography was higher than normal and the volume of aortic peri-vascular adipose tissue was lower.
Conclusion. These preliminary observations suggest that peri-vascular adipose tissue attenuation is unexpectedly high in patients with Marfan Syndrome, notwithstanding the normal aortic diameter at the time of computed tomography. Whether this observation may find a clinical use in suspected Marfan Syndrome or in predicting aortic complications in Marfan Syndrome is worth to be assessed in prospective studies.

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References

1. Pereira L, Andrikopoulos K, Tian J, et al. Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. Nat Genet. 1997 Oct;17(2):218-22. doi: 10.1038/ng1097-218. PMID: 9326947.
2. Sponseller PD, Hobbs W, Riley LH 3rd and Pyeritz RE. The thoracolumbar spine in Marfan syndrome. J Bone Joint Surg Am. 1995 Jun;77(6):867-76. doi: 10.2106/00004623-199506000-00007. PMID: 7782359.
3. Pyeritz RE and McKusick VA. The Marfan syndrome: diagnosis and management. N Engl J Med. 1979 Apr 5;300(14):772-7. doi: 10.1056/NEJM197904053001406. PMID: 370588.
4. Schorr S, Braun K and Wildman J. Congenital aneurysmal dilatation of the ascending aorta associated with arachnodactyly; an angiocardiographic study. Am Heart J. 1951 Oct;42(4):610-6. doi: 10.1016/0002-8703(51)90157-3. PMID: 14877755.
5. Brown OR, DeMots H, Kloster FE, Roberts A, Menashe VD and Beals RK. Aortic root dilatation and mitral valve prolapse in Marfan's syndrome: an ECHOCARDIOgraphic study. Circulation. 1975 Oct;52(4):651-7. doi: 10.1161/01.cir.52.4.651. PMID: 1157278.
6. Fattori R, Nienaber CA, Descovich B, et al. Importance of dural ectasia in phenotypic assessment of Marfan's syndrome. Lancet. 1999 Sep 11;354(9182):910-3. doi: 10.1016/s0140-6736(98)12448-0. PMID: 10489951.
7. Verstraeten A, Alaerts M, Van Laer L and Loeys B. Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery. Hum Mutat. 2016 Jun;37(6):524-31. doi: 10.1002/humu.22977. Epub 2016 Mar 14. PMID: 26919284.
8. Nguyen BT. Computed tomography diagnosis of thoracic aortic aneurysms. Semin Roentgenol. 2001 Oct;36(4):309-24. doi: 10.1053/sroe.2001.28572. PMID: 11715326.
9. Liotta R, Chughtai A and Agarwal PP. Computed tomography angiography of thoracic aortic aneurysms. Semin Ultrasound CT MR. 2012 Jun;33(3):235-46. doi: 10.1053/j.sult.2011.11.003. PMID: 22624968.
10. Antonopoulos AS, Sanna F, Sabharwal N, et al. Detecting human coronary inflammation by imaging perivascular fat. Sci Transl Med. 2017 Jul 12;9(398):eaal2658. doi: 10.1126/scitranslmed.aal2658. PMID: 28701474.
11. Pasqualetto MC, Tuttolomondo D, Cutruzzolà A, et al. Human coronary inflammation by computed tomography: Relationship with coronary microvascular dysfunction. Int J Cardiol. 2021 Aug 1;336:8-13. doi: 10.1016/j.ijcard.2021.05.040. Epub 2021 May 28. PMID: 34052238.
12. Tuttolomondo D, Martini C, Nicolini F, et al. Perivascular Adipose Tissue Attenuation on Computed Tomography beyond the Coronary Arteries. A Systematic Review. Diagnostics (Basel). 2021 Aug 19;11(8):1495. doi: 10.3390/diagnostics11081495. PMID: 34441429; PMCID: PMC8393555.
13. Gaibazzi N, Sartorio D, Tuttolomondo D, et al. Attenuation of peri-vascular fat at computed tomography to measure inflammation in ascending aorta aneurysms. Eur J Prev Cardiol. 2020 Mar 17:2047487320911846. doi: 10.1177/2047487320911846. Epub ahead of print. PMID: 32183558.
14. Gaibazzi N, Tuttolomondo D, Nicolini F, et al. The Histopathological Correlate of Peri-Vascular Adipose Tissue Attenuation on Computed Tomography in Surgical Ascending Aorta Aneurysms: Is This a Measure of Tissue Inflammation?. Diagnostics 2021, 11, 1799. doi: 10.3390/diagnostics11101799