ISSN 1016-5169 | E-ISSN 1308-4488
pdf
Fabry disease: An overlooked diagnosis in adult cardiac patients [Turk Kardiyol Dern Ars]
Turk Kardiyol Dern Ars. 2017; 45(6): 549-555 | DOI: 10.5543/tkda.2017.68709

Fabry disease: An overlooked diagnosis in adult cardiac patients

Meral Kayıkçıoğlu1, Evrim Şimşek1, Sema Kalkan Uçar2, Selen Bayraktaroğlu3, Hüseyin Onay4, Eser Sözmen5, Mahmut Çoker2
1Department of Cardiology, Ege University Faculty of Medicine, Izmir, Turkey
2Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, Ege University Faculty of Medicine, İzmir, Turkey,
3Department of Radiology, Ege University Faculty of Medicine, Izmir, Turkey
4Department of Medical Genetics, Ege University Faculty of Medicine, İzmir, Turkey
5Department of Biochemistry, Ege University Faculty of Medicine, İzmir, Turkey

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 described are 2 cases of Fabry disease and the signs and symptoms of cardiac involvement, as well as the importance of early diagnosis to start enzyme replacement therapy before the development of irreversible tissue damage.

Keywords: Echocardiography, Fabry disease, lysosomal storage disorder, left ventricular hypertrophy.

Corresponding Author: Meral Kayıkçıoğlu, Türkiye
Manuscript Language: Turkish
×
APA
NLM
AMA
MLA
Chicago
Copied!
CITE


Journal Metrics

Journal Citation Indicator: 0.18
CiteScore: 1.1
Source Normalized Impact
per Paper:
0.22
SCImago Journal Rank: 0.348

Quick Search



Copyright © 2024 Archives of the Turkish Society of Cardiology



Kare Publishing is a subsidiary of Kare Media.