Fabry disease: An overlooked diagnosis in adult cardiac patients


KAYIKCIOGLU M., ŞİMŞEK E. , Ucar S. K. , BAYRAKTAROĞLU S. , ONAY H. , Sozmen E. , ...Daha Fazla

TURK KARDIYOLOJI DERNEGI ARSIVI-ARCHIVES OF THE TURKISH SOCIETY OF CARDIOLOGY, cilt.45, ss.549-555, 2017 (ESCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 45 Konu: 6
  • Basım Tarihi: 2017
  • Doi Numarası: 10.5543/tkda.2017.68709
  • Dergi Adı: TURK KARDIYOLOJI DERNEGI ARSIVI-ARCHIVES OF THE TURKISH SOCIETY OF CARDIOLOGY
  • Sayfa Sayıları: ss.549-555

Özet

Fabry disease is a rare, X-linked, lysosomal glycosphingolipid storage disorder. A deficiency of the enzyme alpha-galactosidase results in intracellular accumulation of globotriaosylceramide in multiple cell types, such as those of the nerves, kidneys, cardiac, and cutaneous tissues, leading to a multisystem disease. Male patients are more severely affected; however, heterozygous female patients may also be afflicted, though often the symptoms develop later. Cardiac involvement can include left ventricular hypertrophy, conduction abnormalities, arrhythmias, valvular abnormalities, and heart failure. A variant of the disease affects only cardiac tissue and mostly manifests as unexplained ventricular hypertrophy. Presently 2 cases of Fabry disease and the signs and symptoms of cardiac involvement, and the importance of early diagnosis to start enzyme replacement therapy before the development of irreversible tissue damage will be discussed.