Ahmet İRDEM, Osman BAŞPINAR, Mehmet Nuri ÖZBEK, Yılmaz KÖR, Metin KILINÇ, Mehmet KERVANCIOĞLU

Ağır hipertrofik kardiyomiyopati ile kendini gösteren infantil pompe hastalığı: Üç olgu sunumu

İnfantil Pompe hastalığı (glikojen depo hastalığı tip 2) alfa-glukozidaz eksikliğinin sebep olduğu ölümcül bir hastalıktır. Hastalığın patogenezinde hücreler içinde yıkılamayan aşırı glikojen birikimi rol oynar. Glikojenin aşırı birikim birçok hücrede olmasına rağmen klinik bulgular başlıca iskelet ve kalp kası tutulumuna sınırlıdır. Bu nedenle yaygın miyopati, kardiyomiyopati ve solunum kaslarının güçsüzlüğü nedeniyle erken süt çocukluğu döneminde ölüme yol açabilen ilerleyici bir hastalıktır. Biz de, solunum kasları tutulumu ile birlikte, EKG'de kısa PR aralığı, uzun QRS, biventriküler hipertrofi bulguları ve ekokardiyografide belirgin hipertrofik kardiyomiyopatisi olan üç olguyu sunmayı amaçladık.

Anahtar Kelimeler:

Çocuk; hipertrofik kardiyomiyopati; pompe hastalığı.

Infantile pompe disease presenting itself with severe hypertrophic cardiomyopathy: Three case reports

Infantile Pompe disease (glycogen storage disease type II) is a fatal disease that results from α glycosidase enzyme deficiency. Excessive undegradable intracellular glycogen deposition plays a role in the pathogenesis of the disease. Although excessive glycogen deposition involves many cells, clinical signs are limited mainly to the skeletal and cardiac muscle involvement. Therefore, it is a progressive disease that can cause death in early childhood due to extensive cardiomyopathy and weakness of respiratory muscles. We as well, aimed to present three cases, which had short P-R interval, large QRS complex and the signs of biventricular hypertrophy on ECG and prominent hypertrophic cardiomyopathy on transthoracic echocardiography in addition to respiratory muscle involvement.

Keywords:

Children; hypertrophic cardiomyopathy; pompe disease.,

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