nach oben

Pediatric Cardiology

Erschienen in:

01.06.2015 | Review Article

Aortic Involvement in Pediatric Marfan syndrome: A Review

verfasst von: Omonigho Ekhomu, Zahra J. Naheed

Erschienen in: Pediatric Cardiology | Ausgabe 5/2015

Einloggen, um Zugang zu erhalten

Abstract

Outlining specific protocols for the management of pediatric patients with Marfan syndrome has been challenging. This is mostly due to a dearth of clinical studies performed in pediatric patients. In Marfan syndrome, the major sources of morbidity and mortality relate to the cardiovascular system. In this review, we focus on aortic involvement seen in pediatric patients with Marfan syndrome, ranging from aortic dilatation to aortic rupture and heart failure. We discuss the histological, morphological, and pathogenetic basis of the cardiac manifestations seen in pediatric Marfan syndrome and use a specific case to depict our experienced range of cardiovascular manifestations. The survival for patients with Marfan syndrome may approach the expected survival for non-affected patients, with optimal management. With this potentiality in mind, we explore possible and actual management considerations for pediatric Marfan syndrome, examining both medical and surgical therapy modalities that can make the possibility of improved survival a reality.

Adams JN, Trent RJ (1998) Aortic complications of Marfan’s syndrome. Lancet 352:1722–1723CrossRefPubMed

Ashworth JL, Murphy G, Rock MJ, Sherratt MJ (1999) Fibrillin degradation by matrix metalloproteinases: implication for connective tissue remodelling. Biochem J 340:171–181CrossRefPubMedCentralPubMed

Baumgartner D, Baumgartner C, Matayas G, Steinmann B et al (2005) Diagnostic power of aortic elastic properties in young patients with Marfan syndrome. J Thorac Cardiovasc Surg 129:730–739CrossRefPubMed

Bechtel JFM, Erasmi AW, Misfeld M, Sievers H (2006) Reconstructive surgery of the aortic valve: the Ross, David, and Yacoub procedures. Herz 31:413–422CrossRefPubMed

Bresters D, Nikkels PGJ, Meijboom EJM, Hoorntje TM et al (1999) Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome. Acta Paediatr 88:98–101CrossRefPubMed

Brooke BS, Habashi JP, Judge DP et al (2008) Angiotensin II blockade and aortic-root dilation in Marfan’s syndrome. N Engl J Med 358(26):2787–2795

Carrel T, Berdat P, Pavlovic M, Sukhanov S et al (2003) Surgery of the dilated aortic root and ascending aorta in pediatric patients: techniques and results. Eur J Cardiothorac Surg 24:249–254CrossRefPubMed

Chiu H, Wu M, Wang J, Lu C (2013) Losartan Added to ß-blockade therapy for aortic root dilation in Marfan syndrome: a randomized, open-label pilot study. Mayo Clin Proc 88:271–276CrossRefPubMed

Davis EC (1994) Immunolocalization of microfibril and microfibril-associated proteins in the subendothelial matrix of the developing mouse aorta. J Cell Sci 107:727–736PubMed

10.

Della Corte A, Romano G, Tizzano F, Amarelli C et al (2006) Echocardiographic anatomy of ascending aorta dilatation: correlations with aortic valve morphology and function. Int J Cardiol 113:320–326CrossRefPubMed

11.

Dietz HC (2011) Marfan syndrome. In: Pagon RA, Bird TD, Dolan CR, et al (eds) GeneReviews [Internet]. University of Washington, Seattle, WA, pp 1993–2011. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1335/. Accessed 9 Sept 2012

12.

Dingemans KP, Teeling P, Lagendijk JH, Becker AE (2000) Extracellular matrix of the human aortic media: an ultrastructural histochemical and immunohistochemical study of the adult aortic media. Anat Rec 258:1–14CrossRefPubMed

13.

Elshershari H, Esseid M, Sueblinvong V, Harris C (2014) Angiotensin II receptor blocker slows the rate of progression of aortic root dilatation in Marfan syndrome: two case reports and review of the literature. Congenit Cardiol Today 12(3):1–3

14.

Erbel R, Eggebrecht H (2006) Aortic dimensions and the risk of dissection. Heart 92(1):137–142CrossRefPubMedCentralPubMed

15.

Faivre L, Masurel-Paulet A, Collod-Béroud G, Callewaert BL (2009) Clinical and molecular study of 320 children with Marfan syndrome and related type 1 fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics 123:391–398CrossRefPubMed

16.

Fedak PWM, de Sa MPL, Verma S, Nili N et al (2003) Vascular matrix remodeling in patients with bicuspid aortic valve malformations: implications for aortic dilatation. J Thorac Cardiovasc Surg 126(3):805–806CrossRef

17.

Gao L, Mao Q, Wen D, Zhang L et al (2011) The effect of beta-blocker therapy on progressive aortic dilatation in children and adolescents with Marfan’s syndrome: a meta-analysis. Acta Paediatr 100:e101–e105CrossRefPubMed

18.

Gersony DR, McClaughlin M, Zhezhen J, Gersony WM (2007) The effect of beta-blocker therapy on clinical outcome in patients with Marfan’s syndrome: a meta-analysis. Int J Cardiol 303–308

19.

Habashi JP, Judge DP, Holm TM, Cohn RD et al (2006) Losartan, an AT₁ antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 312(5770):117–121CrossRefPubMedCentralPubMed

20.

Hartog AW, Franken R, Zwinderman AH, Groenink M et al (2012) Current and future pharmacological treatment strategies with regard to aortic disease in Marfan syndrome. Expert Opin Pharmacother 13(5):647–662CrossRefPubMed

21.

Ikonomidis JS, Jones JA, Barbour JR, Stroud RE et al (2006) Expression of matrix metalloproteinases and endogenous inhibitors within ascending aortic aneurysms of patients with Marfan syndrome. Circulation. 114(Suppl. 1):I-365–I-370

22.

Jones JA, Ikonomidis JS (2010) The pathogenesis of Aortopathy in Marfan syndrome and related diseases. Curr Cardiol Rep 12:99–107CrossRefPubMed

23.

Keane MG, Pyeritz RE (2008) Medical management of Marfan syndrome. Circulation 117:2802–2813

24.

Kemna MS, Murphy DJ, Silverman NH (2009) Screening for aortic root dilation in Marfan syndrome using the ratio of the aortic root to descending aortic diameters in children. J Am Soc Echocardiogr 22:1109–1113CrossRefPubMed

25.

Kraseman T, Kotthoff S, Kehl HG et al (2005) Cardiac transplantation in neonatal Marfan syndrome—a life-saving approach. Thorac Cardiov Surg 53(Suppl. 2):S146–S148CrossRef

26.

Lacro RV, Guey LT, Dietz HC, Pearson GD (2013) Characteristics of children and young adults with Marfan syndrome and aortic root dilatation in a randomized trial comparing atenolol and losartan therapy. Am Heart J 165:828–835CrossRefPubMedCentralPubMed

27.

Ladouceur M, Fermanian C, Lupoglazoff J, Edouard T et al (2007) Effect of beta-blockade on ascending aortic dilatation in children with the Marfan syndrome. Am J Cardiol 99:406–409CrossRefPubMed

28.

Lazarevic AM, Nakatani S, Okita Y, Marinkovic J et al (2006) Determinants of rapid progression of aortic root dilatation and complications in Marfan syndrome. Int J Cardiol 106:177–182CrossRefPubMed

29.

Legget ME, Unger TA, O’Sullivan CK, Zwink TR (1996) Aortic root complications in Marfan’s syndrome: identification of a lower risk group. Heart 75:389–395CrossRefPubMedCentralPubMed

30.

Loomba RS, Arora RR (2011) Role of angiotensin receptor blockers for management of aortic dilation associated with Marfan syndrome. Expert Rev Cardiovasc Ther 9(10):1257–1259CrossRefPubMed

31.

Marsalese DL, Moodie DS, Vacante M, Lytle BW, Gill CC et al (1989) Marfan’s syndrome: natural history and long-term follow-up of cardiovascular involvement. J Am Coll Cardiol 14:422–428CrossRefPubMed

32.

Morse RP, Rockenmacher S, Pyeritz RE, Sanders SP (1990) Diagnosis and management of infantile Marfan syndrome. Pediatrics 86:888–895PubMed

33.

Mueller GC, Stierle L, Stark V, Steiner K et al (2014) Retrospective analysis of the effect of angiotensin II receptor blocker versus β-blocker on aortic root growth in paediatric patients with Marfan syndrome. Heart 100:214–218CrossRefPubMed

34.

Mullen MJ, Flather MD, Jin XY, Newman WG et al (2013) A prospective, randomized, placebo-controlled, double-blind, multicenter study of the effects of irbesartan on aortic dilatation in Marfan syndrome (AIMS trial): study protocol. Trials 14:408CrossRefPubMedCentralPubMed

35.

Niwa K, Perloff JK, Bhuta SM, Laks H et al (2001) Structural abnormalities of great arterial walls in congenital heart disease. Circulation 103:393–400CrossRefPubMed

36.

Patel ND, Weiss ES, Alejo DE, Nwakanma LU et al (2008) Aortic root operations for Marfan syndrome: a comparison of the Bentall and valve-sparing procedures. Ann Thorac Surg 85:2003–2011CrossRefPubMed

37.

Patel ND, Arnaoutakis GJ, George TJ, Allen JG et al (2011) Valve-sparing aortic root replacement in children: intermediate-term results. Interact CardioVasc Thorac Surg 12:415–419CrossRefPubMed

38.

Pees C, Laccone F, Hagl M, DeBrauwer V (2013) Usefulness of Losartan on the size of the ascending aorta in an unselected cohort of children, adolescents, and young adults with Marfan syndrome. Am J Cardiol 112:1477–1483CrossRefPubMed

39.

Pereira L, Andrikopoulos K, Tian J, Lee SY et al (1997) Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. Nat Genet 17(2):218–222CrossRefPubMed

40.

Pettersen MD, Wei D, Skeens M, Humes RA (2008) Regression equations for calculation of z-scores of cardiac structures in a large cohort of healthy infants, children, and adolescents: an echocardiographic study. J Am Soc Echocardiogr 21(8):922–934CrossRefPubMed

41.

Pyeritz RE (2009) Marfan syndrome: 30 years of research equals 30 years of additional life expectancy. Heart 95:173–175CrossRefPubMed

42.

Rakhra SS, Brizard CP, d’Udekem Y, Konstantinov IE (2012) Valve-sparing aortic root replacement in children. J Thorac Cardiovasc Surg 144:980–981CrossRefPubMed

43.

Ramirez F, Pereira L (1999) Mutations of extracellular matrix components in vascular disease. Ann Thorac Surg 67:1857–1858CrossRefPubMed

44.

Ramswamy P, Lytrivi ID, Nguyen K, Gelb BD (2006) Neonatal Marfan syndrome. Pediatr Cardiol 27:763–765CrossRef

45.

Roman MJ, Rosen SE, Kramer-Fox R, Devereux RD (1993) Prognostic significance of the pattern of aortic root dilatation in the Marfan syndrome. J Am Coll Cardiol 22:1470–1476CrossRefPubMed

46.

Rozendaal L, Blom NA, Hilhorst-Hofstee Y, Ten Harkel ADJ (2011) Dilatation of the great arteries in an infant with Marfan syndrome and ventricular septal defect. Case Rep Med 1–5

47.

Ruzmetov M, Vijay P, Rodefeld MD, Turrentine MW et al (2006) Evolution of aortic valve replacement in children : a single experience. Int J Cardiol 113:194–200CrossRefPubMed

48.

Segura AM, Luna RE, Horiba K, Stetler-Stevenson WG et al (1998) Immunohistochemistry of matrix metalloproteinases and their inhibitors in thoracic aortic aneurysms and aortic valves of patients with Marfan’s syndrome. Circulation 98(Suppl. 19):II331–337PubMed

49.

Shimizu H, Yozu R (2011) Valve-sparing aortic root replacement. Ann Thorac Cardiovasc Surg 17:330–336CrossRefPubMed

50.

Strigl S, Quagebeur JM, Gersony WM (2007) Quadrivalvar replacement in infantile Marfan syndrome. Pediatr Cardiol 28:403–405CrossRefPubMed

51.

Subramanian S, Borger MA (2010) Aortic valve reconstruction: current status. Herz 35:88–93CrossRefPubMed

52.

Tierney ESS, Feingold B, Printz BF, Park SC et al (2007) Beta-blocker therapy does not alter the rate of aortic root dilation in pediatric patients with Marfan syndrome. J Pediatr 150:77–82CrossRef

53.

Tweddell JS, Earing MG, Bartz PJ, Dunham-Ingles JL et al (2012) Valve-sparing aortic root reconstruction in children, teenagers and young adults. Ann Thorac Surg 94:587–591CrossRefPubMed

54.

van Karnebeek CDM, Naeff MSJ, Mulder BJM, Hennekam RCM et al (2001) Natural history of cardiovascular manifestations in Marfan syndrome. Arch Dis Child 84:129–137CrossRefPubMedCentralPubMed

55.

Volguina IV, Miller DC, LeMaire SA, Palmero LC et al (2009) Valve-sparing and valve-replacing techniques for aortic root replacement in patients with Marfan syndrome: analysis of early outcome. Int J Cardiol 137:641–649

56.

Williams A, Kenny D, Wilson D, Fagenello G et al (2012) Effects of atenolol, perindopril and verapamil on haemodynamic and vascular formation in Marfan syndrome—a randomised, double-blind, crossover trial. Eur J Clin Invest 42(8):891–899CrossRefPubMed

57.

Wright MJ, Connolly HM, Otto CM, Yeon SB (2012) Genetics, clinical features, and diagnosis of Marfan syndrome and related disorders. (Uptodate)

58.

Wright MJ, Connolly HM, Otto CM, Yeon SB (2012) Management of Marfan syndrome and related disorders. (Uptodate)

59.

Yetman AT, Graham T (2009) The dilated aorta in patients with congenital cardiac defects. J Am Coll Cardiol 53:461–467CrossRefPubMed

60.

Yetman AT, Huang P, Bornemeier RA, McCrindle BW (2003) Comparison of Outcome of the Marfan syndrome in patients diagnosed at age ≤6 years versus those diagnosed at >6 years of age. Am J Cardiol 91:102–103CrossRefPubMed

Titel: Aortic Involvement in Pediatric Marfan syndrome: A Review
verfasst von: Omonigho Ekhomu
Zahra J. Naheed
Publikationsdatum: 01.06.2015
Verlag: Springer US
Erschienen in: Pediatric Cardiology / Ausgabe 5/2015
Print ISSN: 0172-0643
Elektronische ISSN: 1432-1971
DOI: https://doi.org/10.1007/s00246-015-1101-0

Update Kardiologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Springer Medizin

Aortic Involvement in Pediatric Marfan syndrome: A Review

Abstract

Neu im Fachgebiet Kardiologie

Die „Zehn Gebote“ des Endokarditis-Managements

Strenge Blutdruckeinstellung lohnt auch im Alter noch

Sind Frauen die fähigeren Ärzte?

Dihydropyridin-Kalziumantagonisten können auf die Nieren gehen

Update Kardiologie

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 5/2015

Incomplete Kawasaki Disease with Coronary Artery Aneurysm and Coronary Sinus Thrombus

Defining the Electrocardiogram in the Neonate with Hypoplastic Left Heart Syndrome

Absence of Family History and Phenotype–Genotype Correlation in Pediatric Brugada Syndrome: More Burden to Bear in Clinical and Genetic Diagnosis

D-Transposition of the Great Arteries with Ventricular Septal Defect and Left Ventricular Outflow Tract Obstruction (D-TGA/VSD/LVOTO): A Survey of Perceptions, Preferences, and Experience

A Unique Pattern of Delayed Enhancement of a Large Cardiac Fibroma on Magnetic Resonance Imaging

Feasibility of Noninvasive Fetal Electrocardiographic Monitoring in a Clinical Setting

Neu im Fachgebiet Kardiologie

Die „Zehn Gebote“ des Endokarditis-Managements

Strenge Blutdruckeinstellung lohnt auch im Alter noch

Sind Frauen die fähigeren Ärzte?

Dihydropyridin-Kalziumantagonisten können auf die Nieren gehen

Update Kardiologie