Cardiovascular findings of children with Marfan syndrome

Abstract

Objectives: The aim of our study is to investigate the frequency of structural heart diseases in patients with Marfan syndrome (MS) and to reveal the importance of clinical follow-up in MS. Materials and methods: Study population consisted of 17 patients admitted to the Pediatric Cardiology department between January 2005 and March 2010 with the diagnosis of MS according to the Ghent criteria. Patients were evaluated for the eye, genetic and the cardiovascular system abnormalities. Physical examination findings, echocardiographic, and radiological examinations of the patients were evaluated retrospectively. Results: Of the 17 cases, 9 were girls and 8 were males, ages ranged from 1 month to 17 years (mean 9.7 years). There was a second degree of kinship between mothers and fathers in 5 patients. Respiratory distress, syncope, chest pain and palpitation were the most seen in the presentation complaint of the patients. Skeletal findings observed in 13 patients, 4 patients had subluxation of the lens. Two patients had positive family history. When cardiovascular findings were examined, there were aortic root dilatation with mitral valve prolapse and/or tricuspid valve prolapse in 8 patients, mitral valve prolapse in 3 patients only aortic root dilatation in 3 patients and mitral valve prolapse and tricuspid valve prolapse in 3 patients. Mean follow-up period was 2.6 years, aneurysm and rupture of the aorta wasn\'t observed during this period. Conclusion: In patients with Marfan syndrome, regular follow-up and cardiological evaluation should be done because significant structural heart diseases can be seen in these patients. J Clin Exp Invest 2012; 3(2): 199-201

Keywords

• Marfan syndrome, aortic root dilatation, mitral valve prolapse

Marfan sendromlu çocukların kardiyolojik bulguları

Öz

Amaç: Bu çalışmamızın amacı, Marfan sendromlu (MS) olgularda yapısal kalp hastalıklarının sıklığını araştırmak ve klinik izlemin önemini ortaya koymaktır. Gereç ve yöntem: Ocak 2005-Mart 2010 tarihleri arasında Çocuk Kardiyolojisi bölümüne başvuran ve Ghent kriterlerine göre MS tanısı konan 17 hasta çalışmaya alındı. Hastalar kardiovasküler sistem muayenelerinin yanı sıra göz ve genetik bakımından da değerlendirildi. Hastaların fizik inceleme bulguları, ekokardiyografik ve radyolojik incelemeleri geriye dönük olarak irdelendi. Bulgular: Çalışmaya alınan 17 olgunun 9'u kız, 8'i erkek olup, yaşları 1 ay-17 yıl (ort. 9.7 yıl) arasında değişmekte idi. Hastaların 5'inde anne ve baba arasında 2. derecede akrabalık vardı. Hastaların başvuru yakınmaları arasında en fazla solunum sıkıntısı, bayılma, göğüs ağrısı ve çarpıntı görüldü. Hastaların 13'ünde iskelet sistemine ait bulgular görülürken, 4 hastada lens subluksasyonu saptandı. İki hastada aile anamnezi pozitifti. Kardiyovasküler bulgular incelendiğinde, hastaların 8'inde aort kökü dilatasyonu ile birlikte mitral valv prolapsusu ve/veya triküspit valv prolapsusu, 3'ünde mitral valv prolapsusu, 3'ünde sadece aort kökü dilatasyonu, 3'ünde mitral valv prolapsusu ve triküspit valv prolapsusu vardı. İzlem süresi ort. 2.6 yıl olup bu süre içinde aorta anevrizması ve rüptürü gözlenmedi. Sonuç: Marfan sendromlu hastalarda önemli yapısal kalp hastalıklarının görülmesi nedeniyle kardiyolojik olarak değerlendirilmesi ve düzenli izlemleri yapılmalıdır.

Anahtar Kelimeler

• Marfan sendromu, aort kökü genişlemesi, mitral kapak prolapsusu

Kaynakça

1. Dean JC. Marfan syndrome: clinical diagnosis and manage- ment. Eur J Hum Genet 2007;15(7):724-33.
2. Ha HI, Seo JB, Lee SH al. Imaging of Marfan syndrome: mul- tisystemic manifestations. Radiograhics 2007;27(4):989- 1004.
3. De Backer J. Cardiovascular characteristics in Marfan syn- drome and their relation to the genotype. Verh K Acad Ge- neeskd Belg 2009;71(6):335-71.
4. Chan KL, Callahan WA, Seward JB, et al. Marfan Syndrome diagnosed in patients 32 years of age or older. Mayo Clin Proc 1987:62(7);589-94.
5. Marfan AB. Un cas de formation congenitale des quatre: membres plus prononcé aux extrémités charactériseé par l’allongement des os avec uncertain degré d’amincissement. Bull Mém Soc Méd Hôp Paris 1896;13(4):220-6.
6. Harry CD, Carry C, Reed EP, et al.Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991;352(6333):337-9.
7. Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet 2007;81(3):454-66.
8. De Paepe, Deverux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996;62(4):417-26.

9. Cañadas V, Vilacosta I, Bruna I, Fuster V. Marfan syndrome. Part 1: pathophysiology and diagnosis. Nat Rev Cardiol 2010;7(5):256-65.
10. Levy D, Savage D. Prevalence and clinical features of mitral valve prolapse. Am Heart J 1987;113(5):1281-90.
11. Ozdemir O, Olgunrturk R, Kula S, Tunaoglu FS. Echocardio- graphic findings in children with Marfan syndrom. Cardiovasc J Afr 2011;22(5):245-8.
12. Ergin MA, Spielvogel D, Apaydin A, et al. Surgical treatment of the dilated ascending aorta: When and how? Ann Thorac Surg 1999;67(6):1834-9.
13. Mart CR, Khan SA, Smith FC, Kavey RE. A new on-line meth- od for predicting aortic root dilatation during two-dimensional echocardiography in pediatric patients with Marfan syn- drome using the sinus of Valsalva to annulus ratio. Pediatr Cardiol 2003;24(2):118-21.
14. Erentug V, Polat A, Kırali K, Akıncı E, Yakut C. Marfan send- romunda kardiyovasküler tutulum ve tedavi. Anadolu Kardi- yol Derg 2005;5(1):46-52.
15. Hirata K, Triposkiadis F, Sparks E, Bowen J, Boudou- las H, Wooley CF. The Marfan syndrome: Cardiovascular physical findings and diagnostic correlates. Japan Heart J 1992;1223(3)904-22.
16. Shores J, Berger KR, Murphy EA, Pyeritz RE. Progres- sion of aortic dilatation and the benefit of long-term beta- adrenergic blockade in Marfan’s syndrome. N Engl J Med 1994;330(19):1335-41.
17. Dean JCS. Management of Marfan Syndrome. Heart 2002;88(1):97-103.
18. Marsatese DL, Moodie DS, Vacante M, et al. Marfan’s syn- drome: natural history and long-term follow-up of cardiovas- cular involvement. J Am Coll Cardiol 1989;14(2):422-8.