AI Summary & Key Takeaways
AI InsightAn echocardiographic examination should be performed periodically even if the patient has no clinical signs of cardiac disease, and any cardiac involvement should be kept under control with medical treatment
📌 3 Key Takeaways
Abstract
Objective: The mucopolysaccharidoses (MPS) are an important group of lysosomal storage diseases. Commonly reported cardiac involvement includes mitral leaflet thickening and accompanying prolapsus, regurgitation, and rarely, stenosis. The aim of this study was to evaluate cardiac involvement in patients with MPS type VI.Methods: The study included a total of 13 children with MPS type VI who were admitted to a single pediatric department between 2016 and 2018. Cardiac status was evaluated prospectively with clinical findings, electrocardiography, and echocardiography. The age of the patients (8 boys, 5 girls) ranged between 2 and 14 years (median: 9 years).Results: No arrhythmia was observed in any patient. Thickening of the mitral valve with or without regurgitation and prolapsus was the most common lesion seen. Additional involvement of the aortic valve was detected in 12 (92.3%) patients, and additional involvement of the tricuspid valve in 4 (30.8%). Isolated septal hypertrophy was found in 2 patients, and congestive heart failure in another.Conclusion: Cardiac involvement is frequent in MPS. Mitral valve deformation is the most frequent finding. An echocardiographic examination should be performed periodically even if the patient has no clinical signs of cardiac disease, and any cardiac involvement should be kept under control with medical treatment
Özet
Amaç: Mukopolisakkaridozlar (MPS) önemli bir lizozomal depo hastalığı grubu olup, kardiyovasküler sistemde en sık kalp kapakçıkları ve koroner arterlerde tutulum ile kendilerini gösterirler. Bu çalışmada, MPS tip VI tanısıyla izlenençocuklarda kardiyak tutulumun değerlendirilmesi amaçlanmıştır.Yöntemler: Mukopolisakkaridoz tip VI tanısı ile 2016−2018 yılları arasında izlenen 13 olgunun fizik muayene, elektrokardiyografi ve standart transtorasik ekokardiyografi bulguları geriye dönük olarak değerlendirildi. Hastaların (8 erkek, 5 kız) yaş aralığı 2–17 yaş (medyan 9) idi.Bulgular: Hastaların EKG’lerinde ritim bozukluğu ve iskemibulgusu saptanmadı. Ekokardiyografide mitral kapakta yetersizliği en sık görülen bulgu idi. Olguların 12’sine (%92.3) aort kapak yetersizliği, dördüne (%30.8) triküspit kapakyetersizliği eşlik ediyordu. İzole septal hipertrofi iki olguda mevcut idi. Bir olguda kapak tutulumuna ek sol ventrikül sistolik fonksiyonlarında bozulma görüldü.Sonuç: Mukopolisakkaridozda kardiyak tutulum herhangi bir zamanda ortaya çıkabilir. Mitral kapak deformasyonu en sık görülen bulgudur. MPS’li olgularda belirgin yakınmave fizik muayene bulgusu olmasa dahi, ekokardiyografik incelemede kardiyak tutulum saptanmaktadır. Bu nedenle olguların kardiyovasküler değerlendirmeleri düzenli olarakyapılmalıdır.