Rofo 2020; 192(01): 50-58
DOI: 10.1055/a-0914-3321
Review
© Georg Thieme Verlag KG Stuttgart · New York

Current and Emerging Imaging Techniques in Patients with Genetic Aortic Syndromes

Article in several languages: English | deutsch
Julius Matthias Weinrich
1   Department of Diagnostic and Interventional Radiology and Nuclear Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
,
Alexander Lenz
1   Department of Diagnostic and Interventional Radiology and Nuclear Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
,
Evaldas Girdauskas
2   Department of Cardiovascular Surgery, University Heart Center Hamburg, Hamburg, Germany
,
Gerhard Adam
1   Department of Diagnostic and Interventional Radiology and Nuclear Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
,
Yskert von Kodolitsch
3   Department of Cardiology, University Heart Center Hamburg, Hamburg, Germany
,
Peter Bannas
1   Department of Diagnostic and Interventional Radiology and Nuclear Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
› Author Affiliations
Further Information

Publication History

24 December 2018

24 April 2019

Publication Date:
06 June 2019 (online)

Abstract

Background Patients with genetic aortic syndromes such as Marfan or Loeys-Dietz syndrome have a decreased life expectancy due to the risk of aortic dissection and rupture. Imaging plays an important role in the acute setting but also in the initial diagnosis and image-based monitoring. In this article, we provide an overview of the most common genetic aortic syndromes and recommended imaging strategies. Furthermore, we highlight modern imaging methods allowing for the quantification of hemodynamic changes in aortic disease.

Method This is a narrative review article on genetic aortic syndromes and recommended imaging strategies, where we take into account expert opinions and standard-of-care practices from our own center.

Results and Conclusion Radiological imaging plays a key role in the initial diagnosis and surveillance of patients with genetic aortic syndromes. Radiologists contribute significantly to the multi-disciplinary setting of genetic aortic syndromes with knowledge of special features and recommended imaging methods. Accurate measurement of the aorta is crucial, particularly in terms of diameter-based surgical treatment algorithms. Modern imaging methods like 4D-flow MRI and pulse wave velocity have a potential to further improve individualized risk stratification in patients with genetic aortic syndromes.

Key points:

  • The risk for cardiovascular complications such as acute aortic syndrome is increased in patients with genetic aortic syndromes.

  • Recommended time intervals between image-based monitoring depend on the underlying aortic disease.

  • CT-angiography should be used only in the acute setting.

  • Non-contrast MR-angiography is adequate for screening and image-based monitoring of patients with genetic aortic syndromes.

Citation Format

  • Weinrich JM, Lenz A, Girdauskas E et al. Current and Emerging Imaging Techniques in Patients with Genetic Aortic Syndromes. Fortschr Röntgenstr 2020; 192: 50 – 58

 
  • References

  • 1 von Kodolitsch Y, De Backer J, Schüler H. et al. Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome. Appl Clin Genet 2015; 8: 137-155
  • 2 Judge DP, Dietz HC. Marfan’s syndrome. Lancet 2005; 366: 1965-1976
  • 3 Westerland O, Frigiola A, Robert L. et al. Vascular manifestations of syndromic aortopathies: role of current and emerging imaging techniques. Clin Radiol 2015; 70: 1344-1354
  • 4 Albornoz G, Coady MA, Roberts M. et al. Familial Thoracic Aortic Aneurysms and Dissections – Incidence, Modes of Inheritance, and Phenotypic Patterns. Ann Thorac Surg 2006; 82: 1400-1405
  • 5 Hiratzka LF, Bakris GL, Beckman JA. et al. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the diagnosis and management of patients with thoracic aortic disease. A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. J Am Coll Cardiol 2010; 55: e27-e129
  • 6 Erbel R, Aboyans V, Boileau C. et al. 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). Eur Heart J 2014; 35: 2873-2926
  • 7 Goldstein SA, Evangelista A, Abbara S. et al. Multimodality imaging of diseases of the thoracic aorta in adults: from the American Society of Echocardiography and the European Association of Cardiovascular Imaging: endorsed by the Society of Cardiovascular Computed Tomography and Society for Cardiovascular Magnetic Resonance. J Am Soc Echocardiogr 2015; 28: 119-182
  • 8 Mortensen K, Baulmann J, Rybczynski M. et al. Augmentation Index and the Evolution of Aortic Disease in Marfan-Like Syndromes. Am J Hypertens 2009; 23: 716-724
  • 9 von Knobelsdorff-Brenkenhoff F, Gruettner H, Trauzeddel RF. et al. Comparison of native high-resolution 3D and contrast-enhanced MR angiography for assessing the thoracic aorta. Eur Heart J Cardiovasc Imaging 2014; 15: 651-658
  • 10 Groth M, Henes FO, Müllerleile K. et al. Accuracy of thoracic aortic measurements assessed by contrast enhanced and unenhanced magnetic resonance imaging. Eur J Radiol 2012; 81: 762-766
  • 11 François CJ, Hartung MP, Reeder SB. et al. MRI for acute chest pain: Current state of the Art. J Magn Reson Imaging 2013; 37: 1290-1300
  • 12 Veldhoen S, Behzadi C, Derlin T. et al. Exact monitoring of aortic diameters in Marfan patients without gadolinium contrast: intraindividual comparison of 2D SSFP imaging with 3D CE-MRA and echocardiography. Eur Radiol 2015; 25: 872-882
  • 13 Bannas P, Groth M, Rybczynski M. et al. Assessment of aortic root dimensions in patients with suspected Marfan syndrome: intraindividual comparison of contrast-enhanced and non-contrast magnetic resonance angiography with echocardiography. Int J Cardiol 2013; 167: 190-196
  • 14 Veldhoen S, Behzadi C, Lenz A. et al. Non-contrast MR angiography at 1.5 Tesla for aortic monitoring in Marfan patients after aortic root surgery. J Cardiovasc Magn Reson 2017; 19: 82
  • 15 Williams JA, Loeys BL, Nwakanma LU. et al. Early Surgical Experience With Loeys-Dietz: A New Syndrome of Aggressive Thoracic Aortic Aneurysm Disease. Ann Thorac Surg 2007; 83: S757-S763
  • 16 Burris NS, Hope MD. 4D flow MRI applications for aortic disease. Magn Reson Imaging Clin N Am 2015; 23: 15-23
  • 17 Dyverfeldt P, Bissell M, Barker AJ. et al. 4D flow cardiovascular magnetic resonance consensus statement. J Cardiovasc Magn Reson 2015; 17: 72
  • 18 Markl M, Frydrychowicz A, Kozerke S. et al. 4D flow MRI. J Magn Reson Imaging 2012; 36: 1015-1036
  • 19 Bannas P, Roldán-Alzate A, Johnson KM. et al. Longitudinal Monitoring of Hepatic Blood Flow before and after TIPS by Using 4D-Flow MR Imaging. Radiology 2016; 281: 574-582
  • 20 Motosugi U, Roldán-Alzate A, Bannas P. et al. Four-dimensional Flow MRI as a Marker for Risk Stratification of Gastroesophageal Varices in Patients with Liver Cirrhosis. Radiology 2018; 180230
  • 21 Chai P, Mohiaddin R. How we perform cardiovascular magnetic resonance flow assessment using phase-contrast velocity mapping. J Cardiovasc Magn Reson 2005; 7: 705-716
  • 22 Bannas P, Lenz A, Petersen J. et al. Normalization of Transvalvular Flow Patterns After Bicuspid Aortic Valve Repair: Insights From Four-Dimensional Flow Cardiovascular Magnetic Resonance Imaging. Ann Thorac Surg 2018; 106: e319-e320
  • 23 Potters WV, van Ooij P, Marquering H. et al. Volumetric arterial wall shear stress calculation based on cine phase contrast MRI. J Magn Reson Imaging 2015; 41: 505-516
  • 24 Wang HH, Chiu HH, Tseng WYI. et al. Does altered aortic flow in marfan syndrome relate to aortic root dilatation?. J Magn Reson Imaging 2016; 44: 500-508
  • 25 Mahadevia R, Barker AJ, Schnell S. et al. Bicuspid aortic cusp fusion morphology alters aortic three-dimensional outflow patterns, wall shear stress, and expression of aortopathy. Circulation 2014; 129: 673-682
  • 26 Geiger J, Hirtler D, Gottfried K. et al. Longitudinal Evaluation of Aortic Hemodynamics in Marfan Syndrome: New Insights from a 4D Flow Cardiovascular Magnetic Resonance Multi-Year Follow-Up Study. J Cardiovasc Magn Reson 2017; 19: 1-11
  • 27 Nollen GJ, Groenink M, Tijssen JGP. et al. Aortic stiffness and diameter predict progressive aortic dilatation in patients with Marfan syndrome. Eur Heart J 2004; 25: 1146-1152
  • 28 Whitlock MC, Hundley WG. Noninvasive Imaging of Flow and Vascular Function in Disease of the Aorta. JACC Cardiovasc Imaging 2015; 8: 1094-1106
  • 29 Groenink M, de Roos A, Mulder BJ. et al. Changes in aortic distensibility and pulse wave velocity assessed with magnetic resonance imaging following beta-blocker therapy in the Marfan syndrome. Am J Cardiol 1998; 82: 203-208
  • 30 Kröner ESJ, Scholte AJHA, de Koning PJH. et al. MRI-assessed regional pulse wave velocity for predicting absence of regional aorta luminal growth in marfan syndrome. Int J Cardiol 2013; 167: 2977-2982
  • 31 Flachskampf FA. How Exactly Do You Measure That Aorta? Lessons From Multimodality Imaging. JACC Cardiovasc Imaging 2016; 9: 227-229
  • 32 Elefteriades JA, Farkas EA. Thoracic aortic aneurysm clinically pertinent controversies and uncertainties. J Am Coll Cardiol 2010; 55: 841-857
  • 33 Mendoza DD, Kochar M, Devereux RB. et al. Impact of image analysis methodology on diagnostic and surgical classification of patients with thoracic aortic aneurysms. The Ann Thorac Surg 2011; 92: 904-912
  • 34 Elefteriades JA, Rizzo JA, Coady MA. Thoracic aorta. Radiology 1999; 211: 889-889
  • 35 Kehl HG, Kiski D, Orth A. et al. Importance of Z scores in congenital heart disease. Z Herz- Thorax- Gefäßchir 2014; 28: 332-336
  • 36 Dormand H, Mohiaddin RH. Cardiovascular magnetic resonance in Marfan syndrome. J Cardiovasc Magn Reson 2013; 15: 33
  • 37 Engelfriet PM. Beyond the root: dilatation of the distal aorta in Marfan’s syndrome. Heart 2006; 92: 1238-1243
  • 38 von Kodolitsch Y, Rybczynski M, Vogler M. et al. The role of the multidisciplinary health care team in the management of patients with Marfan syndrome. J Multidiscip Healthc 2016; 9: 587-614
  • 39 Loughborough WW, Minhas KS, Rodrigues JCL. et al. Cardiovascular Manifestations and Complications of Loeys-Dietz Syndrome: CT and MR Imaging Findings. Radiographics 2018; 38: 275-286
  • 40 Loeys BL, Chen J, Neptune ER. et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005; 37: 275-281
  • 41 MacCarrick G, Black JH, Bowdin S. et al. Loeys–Dietz syndrome: a primer for diagnosis and management. Genet Med 2014; 16: 576-587
  • 42 Loeys BL, Schwarze U, Holm T. et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 2006; 355: 788-798
  • 43 Lavall D, Schäfers HJ, Böhm M. et al. Aneurysms of the ascending aorta. Dtsch Arztebl Int 2012; 109: 227-233
  • 44 Germain DP. Ehlers-Danlos syndrome type IV. Orphanet J Rare Dis 2007; 2: 32-39
  • 45 Malfait F, Francomano C, Byers P. et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet 2017; 175: 8-26
  • 46 Eagleton MJ. Arterial complications of vascular Ehlers-Danlos syndrome. J Vasc Surg 2016; 64: 1869-1880
  • 47 Malfait F, De Paepe A. The Ehlers-Danlos syndrome. Adv Exp Med Biol 2014; 802: 129-143
  • 48 D’hondt S, Van Damme T, Malfait F. Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review. Genet Med 2018; 20: 562-573
  • 49 Borger MA, Fedak PWM, Stephens EH. et al. The American Association for Thoracic Surgery consensus guidelines on bicuspid aortic valve-related aortopathy: Full online-only version. J Thorac Cardiovasc Surg 2018; 156: e41-e74
  • 50 Verma S, Siu SC. Aortic Dilatation in Patients with Bicuspid Aortic Valve. N Engl J Med 2014; 370: 1920-1929
  • 51 Itagaki S, Chikwe JP, Chiang YP. et al. Long-Term Risk for Aortic Complications After Aortic Valve Replacement in Patients With Bicuspid Aortic Valve Versus Marfan Syndrome. J Am Coll Cardiol 2015; 65: 2363-2369
  • 52 Ward C. Clinical significance of the bicuspid aortic valve. Heart 2000; 83: 81-85
  • 53 Michelena HI, Khanna AD, Mahoney D. et al. Incidence of aortic complications in patients with bicuspid aortic valves. JAMA 2011; 306: 1104-1112
  • 54 Wojnarski CM, Svensson LG, Roselli EE. et al. Aortic Dissection in Patients With Bicuspid Aortic Valve-Associated Aneurysms. Ann Thorac Surg 2015; 100: 1666–1673-discussion 1673–1674
  • 55 Aydin A, Desai N, Bernhardt AMJ. et al. Ascending aortic aneurysm and aortic valve dysfunction in bicuspid aortic valve disease. Int J Cardiol 2013; 164: 301-305
  • 56 Schievink WI, Raissi SS, Maya MM. et al. Screening for intracranial aneurysms in patients with bicuspid aortic valve. Neurology 2010; 74: 1430-1433
  • 57 Ho VB. Major Vascular Anomalies in Turner Syndrome: Prevalence and Magnetic Resonance Angiographic Features. Circulation 2004; 110: 1694-1700
  • 58 Marin A, Weir-McCall JR, Webb DJ. et al. Imaging of cardiovascular risk in patients with Turner’s syndrome. Clin Radiol 2015; 70: 803-814
  • 59 Lin AE, Silberbach M. Focus on the heart and aorta in Turner syndrome. J Pediatr 2007; 150: 572-574
  • 60 Quezada E, Lapidus J, Shaughnessy R. et al. Aortic dimensions in Turner syndrome. Am J Med Genet A 2015; 167: 2527-2532
  • 61 Gravholt CH, Andersen NH, Conway GS. et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol 2017; 177: G1-G70
  • 62 Dijkema EJ, Leiner T, Grotenhuis HB. Diagnosis, imaging and clinical management of aortic coarctation. Heart 2017; 103: 1148-1155