Mukopolisakkaridozlarda Kardiyak Tutulum

Year 2010, Volume: 8 Issue: 3, 48 - 51, 01.12.2010

Kadir Babaoğlu , Gamze Özsoy Köksal Binnetoğlu

Abstract

Giriş: Mukopolisakkaridozlar MPS , lizozomal depo hastalıklarının önemli birgrubudur. Literatürde yayınlanmış vaka serilerinde kardiyovasküler tutulumunMPS’ye sıklıkla eşlik ettiği belirtilmektedir. MPS’li hastalarda en sık görülen kardiyakbulgular, mitral kapakta kalınlaşma ve buna eşlik edebilen prolapsus, yetersizlik vedaha az sıklıkla darlıklardır. Bu çalışma ile MPS tanısı alan hastalarda mukopolisakkaridozlar ve kalp tutulumununirdelenmesi amaçlanmıştır.Gereç ve Yöntem: Bu çalışmada 2005-2009 yılları arasında mukopolisakkaridoz tanısınedeniyle kardiyak inceleme amacıyla bölümümüze gönderilen 11 hastanın 5 erkek,6 kız kardiyak bulguları geriye dönük olarak değerlendirildi. Kardiyak değerlendirmefizik muayene, elektrokardiyografi, telekardiyografi ve ekokardiyografik inceleme ilegerçekleştirildi.Bulgular: Hastaların başvuru yaşı 1,5 ile 14 yıl arasında değişiyordu ve yaş ortalaması7,44±5,35 ortanca 7 yıl idi. MPS tip II ve tip IV üçer hastada saptanmıştı. Tip I iki hastadatip VI ise bir hastada mevcuttu. İki hastanın tiplendirilmesi henüz sonuçlanmamıştı.Hastaların tamamında mitral kapak, 4’ünde %36,3 mitral kapak tutulumuna ilaveten aortkapak tutulumu ve ikisinde ise ilaveten triküspit kapak tutulumu vardı. Bir hastada interventriküler septumda ve sol ventrikül arka duvarda hipertrofi mevcuttu. Pulmonerhipertansiyon ise sadece 1 hastada saptandı. Hastaların hiçbirinde herhangi bir ritm problemi bulunmadı.Sonuç: Mukopolisakkaridozlarda kardiyak tutulum sıktır. Mitral kapak anormalliklerien sık görülen bulgudur. MPS tanısıyla takip edilen hastaların ekokardiyografikincelemeleri, asemptomatik olsalar dahi rutin olarak yapılmalı ve aralıklarla tekrarlanmalıdır

Keywords

Mukopolisakkaridozlar, çocuklar, ekokardiyografi, kalp hastalıkları

Cardiac Involvement in Mucopolysaccharidoses

Abstract

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 evaluatedretrospectively with telecardiography, electrocardiography and echocardiography. Results: The ages of the patients 6 girls and 5 boys ranged between 1.5-14 years andthe mean age was 7.44±5.35 median 7 years. Each of Type II and IV were identifiedin three patients; type I in two and type VI in one. In two patients, MPS type has notbeen identified yet. Thickening of the mitral valve with or without regurgitaion andprolapsus was the most common lesion seen in all patients. Additional involvement ofthe aortic valve was detected in 4 36.3% and additional involvement of tricuspidvalve 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 themost frequent finding. Echocardiographic examination should be performed periodically even if the patient has no clinical signs of cardiac disease

Keywords

Mucopolysaccharidoses, children, echocardiography, cardiac diseases

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