Kadir BABAOĞLU, Köksal BİNNETOĞLU, Gamze ÖZSOY

Mukopolisakkaridozlarda kardiyak tutulum

Giriş: Mukopolisakkaridozlar (MPS), lizozomal depo hastalıklarının önemli bir grubudur. Literatürde yayınlanmış vaka serilerinde kardiyovasküler tutulumun MPS’ye sıklıkla eşlik ettiği belirtilmektedir. MPS’li hastalarda en sık görülen kardiyak bulgular, mitral kapakta kalınlaşma ve buna eşlik edebilen prolapsus, yetersizlik ve daha az sıklıkla darlıklardır. Bu çalışma ile MPS tanısı alan hastalarda mukopolisakkaridozlar ve kalp tutulumunun irdelenmesi amaçlanmıştır. Gereç ve Yöntem: Bu çalışmada 2005-2009 yılları arasında mukopolisakkaridoz tanısı nedeniyle kardiyak inceleme amacıyla bölümümüze gönderilen 11 hastanın (5 erkek, 6 kız) kardiyak bulguları geriye dönük olarak değerlendirildi. Kardiyak değerlendirme fizik muayene, elektrokardiyografi, telekardiyografi ve ekokardiyografik inceleme ile gerçekleştirildi. Bulgular: Hastaların başvuru yaşı 1,5 ile 14 yıl arasında değişiyordu ve yaş ortalaması 7,44±5,35 (ortanca 7) yıl idi. MPS tip II ve tip IV üçer hastada saptanmıştı. Tip I iki hastada tip VI ise bir hastada mevcuttu. İki hastanın tiplendirilmesi henüz sonuçlanmamıştı. Hastaların tamamında mitral kapak, 4’ünde (%36,3) mitral kapak tutulumuna ilaveten aort kapak tutulumu ve ikisinde ise ilaveten triküspit kapak tutulumu vardı. Bir hastada interventriküler septumda ve sol ventrikül arka duvarda hipertrofi mevcuttu. Pulmoner hipertansiyon ise sadece 1 hastada saptandı. Hastaların hiçbirinde herhangi bir ritm problemi bulunmadı. Sonuç: Mukopolisakkaridozlarda kardiyak tutulum sıktır. Mitral kapak anormallikleri en sık görülen bulgudur. MPS tanısıyla takip edilen hastaların ekokardiyografik incelemeleri, asemptomatik olsalar dahi rutin olarak yapılmalı ve aralıklarla tekrarlanmalıdır. (Güncel Pediatri 2010; 8: 48-51)

Cardiac ınvolvement in mucopolysaccharidoses

Introduction: Mucopolysaccharidoses (MPS) are an important group of lysosamal storage diseases. Commonly reported cardiac involvements are mitral leaflet thickening and accompanying prolapsus, regurgitation and rarely stenosis. In this study, it was aimed to evaluate cardiac in involvements in patients with MPS. Materials and Method: We studied a total of 11 children with MPS who were admitted to our department between 2005 and 2009. Cardiac status was evaluated retrospectively with telecardiography, electrocardiography and echocardiography.Results: The ages of the patients (6 girls and 5 boys) ranged between 1.5-14 years and the mean age was 7.44±5.35 (median 7) years. Each of Type II and IV were identified in three patients; type I in two and type VI in one. In two patients, MPS type has not been identified yet. Thickening of the mitral valve with or without regurgitaion and prolapsus was the most common lesion seen in all patients. Additional involvement of the aortic valve was detected in 4 (36.3%) and additional involvement of tricuspid valve in 2 patients. Septal hypertrophy was found in one patient and pulmonary hypertension in another. No arrhythmia was found in any patient. Conclusion: Cardiac involvement is frequent in MPS. Mitral valve deformation is the most frequent finding. Echocardiographic examination should be performed periodically even if the patient has no clinical signs of cardiac disease.(Journal of Current Pediatrics 2010; 8: 48-51)

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1. Krovetz LJ, Lorincz AE, Schiebler GL. Cardiovascular manifestations of the Hurler syndrome. Hemodinamic and angiocardiographic observations in 15 patients. Circulation 1965;31:132-41.
2. Nelson J, Shields MD, Mulholland HC. Cardiovascular studies in the mucopolysaccharidoses. J Med Genet 1990;27:94-100.
3. Gross DM, Williams JC, Caprioli C, Dominguez B, Howell RR. Cardiovascular changes in MPS Echocardiographic abnormalities in the mucopolysaccharide storage diseases. Am J Cardiol 1988;61:170-6.
4. Renteria VG, Ferrans VJ, Roberts WC. The heart in the Hurler syndrome. Gross, histological and ultrastructural observations in five necropsy cases. Am J Cardiol 1976;38:487-501.
5. Dangel JH. Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders--clinical and echocardiographic findings in 64 patients. Eur J Pediatr 1998;157:534-8.
6. Rigante D, Segni G. Cardiac structural involvement in mucopolysaccharidoses. Cardiology 2002;98:18-20.
7. Johnson GL, Vine DL, Cottrill CM, Noonan JA. Echocardiographic mitral valve deformity in the mucopolysaccharidoses. Pediatrics 1981;67:401-6.
8. Mohan UR, Hay AA, Cleary MA, Wraith JE, Patel RG. Cardiovascular changes in children with mucopolysaccharide disorders. Acta Pediatr 2002;91:799-804.
9. Wippermann CF, Beck M, Schranz D, Huth R, Michel-Behnke I, Jüngst BK. Mitral and aortic regurgitation in 84 patients with mucopolysaccaridoses. Eur J Pediatr 1995;154:98-101.
10. Braunlin EA, Berry JM, Whitley CB. Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I. Am J Cardiol 2006;98:416-8.
11. Temizhan M, Ezgü FS, Tümer L, Gündüz M, Hasanoğlu A. Mukopolisakkaridoz Tip 1’li hastada Laronidase tedavisi: 7 aylık sonuçlar. Türkiye Klinikleri J Pediatr Sci 2005;1:9-11.
12. Fesslová V, Corti P, Sersale G, Rovelli A, Russo P, Mannarino S et al. The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses. Cardiol Young 2009;19:170-8.