Infantile pompe disease presenting with severe hypertrophic cardiomyopathy: A case report Ağır hipertrofik kardiyomiyopati ile kendini gösteren İnfantil pompe hastalığı: Olgu sunumu
Haseki Tip Bulteni, cilt.53, sa.3, ss.266-268, 2015 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 53 Sayı: 3
- Basım Tarihi: 2015
- Doi Numarası: 10.4274/haseki.2405
- Dergi Adı: Haseki Tip Bulteni
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.266-268
- Anahtar Kelimeler: Pompe disease, hypertrophic cardiomyopathy, respiratory failure
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Infantile Pompe disease (glycogen storage disease type 2) is a fatal disease with autosomal recessive inheritance, leading to hypertrophic cardiomyopathy, hypotonia and respiratory failure. It is a progressive condition due to accumulation of glycogen in the muscles. We aimed to present a case of infantile Pompe disease in a patient who had giant QRS complexes in electrocardiographic monitoring and hypertrophic cardiomyopathy involving the interventricular septum and the left ventricle on echocardiography.