Fabry disease: An overlooked diagnosis in adult cardiac patients
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 mu...
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2017-09-01
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doaj-0882dd81b3584bdc972483a0f471cee62021-01-19T07:34:47ZengKARE PublishingTürk Kardiyoloji Derneği Arşivi1016-51692017-09-0145654955510.5543/tkda.2017.68709TKDA-68709Fabry disease: An overlooked diagnosis in adult cardiac patientsMeral Kayıkçıoğlu0Evrim Şimşek1Sema Kalkan Uçar2Selen Bayraktaroğlu3Hüseyin Onay4Eser Sözmen5Mahmut Çoker6Department of Cardiology, Ege University Faculty of Medicine, Izmir, TurkeyDepartment of Cardiology, Ege University Faculty of Medicine, Izmir, TurkeyDivision of Pediatric Metabolism and Nutrition, Department of Pediatrics, Ege University Faculty of Medicine, İzmir, Turkey,Department of Radiology, Ege University Faculty of Medicine, Izmir, TurkeyDepartment of Medical Genetics, Ege University Faculty of Medicine, İzmir, TurkeyDepartment of Biochemistry, Ege University Faculty of Medicine, İzmir, TurkeyDivision of Pediatric Metabolism and Nutrition, Department of Pediatrics, 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.https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tkd&un=TKDA-68709echocardiographyfabry diseaselysosomal storage disorderleft ventricular hypertrophy. |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Meral Kayıkçıoğlu Evrim Şimşek Sema Kalkan Uçar Selen Bayraktaroğlu Hüseyin Onay Eser Sözmen Mahmut Çoker |
spellingShingle |
Meral Kayıkçıoğlu Evrim Şimşek Sema Kalkan Uçar Selen Bayraktaroğlu Hüseyin Onay Eser Sözmen Mahmut Çoker Fabry disease: An overlooked diagnosis in adult cardiac patients Türk Kardiyoloji Derneği Arşivi echocardiography fabry disease lysosomal storage disorder left ventricular hypertrophy. |
author_facet |
Meral Kayıkçıoğlu Evrim Şimşek Sema Kalkan Uçar Selen Bayraktaroğlu Hüseyin Onay Eser Sözmen Mahmut Çoker |
author_sort |
Meral Kayıkçıoğlu |
title |
Fabry disease: An overlooked diagnosis in adult cardiac patients |
title_short |
Fabry disease: An overlooked diagnosis in adult cardiac patients |
title_full |
Fabry disease: An overlooked diagnosis in adult cardiac patients |
title_fullStr |
Fabry disease: An overlooked diagnosis in adult cardiac patients |
title_full_unstemmed |
Fabry disease: An overlooked diagnosis in adult cardiac patients |
title_sort |
fabry disease: an overlooked diagnosis in adult cardiac patients |
publisher |
KARE Publishing |
series |
Türk Kardiyoloji Derneği Arşivi |
issn |
1016-5169 |
publishDate |
2017-09-01 |
description |
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. |
topic |
echocardiography fabry disease lysosomal storage disorder left ventricular hypertrophy. |
url |
https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tkd&un=TKDA-68709 |
work_keys_str_mv |
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