ISSN 1016-5169 | E-ISSN 1308-4488
Archives of the Turkish Society of Cardiology
An Overlooked Family with a Rare Mutation for Fabry Disease [Turk Kardiyol Dern Ars]
Turk Kardiyol Dern Ars. Ahead of Print: TKDA-27488 | DOI: 10.5543/tkda.2024.27488

An Overlooked Family with a Rare Mutation for Fabry Disease

Gamze Babur Güler1, Arda Güler1, Abdullah Doğan1, Zümrüt Arslan Gülten2, Aysel Türkvatan Cansever3, Mehmet Karacan4
1Department of Cardiology, Istanbul University of Health Sciences, Mehmet Akif Ersoy Thoracic Cardiovascular Surgery Training and Research Hospital, Istanbul, Türkiye
2Department of Pediatric Metabolism, Sariyer Hamidiye Etfal Training and Research Hospital, Istanbul, Türkiye
3Department of Radiology, Istanbul University of Health Sciences, Mehmet Akif Ersoy Thoracic Cardiovascular Surgery Training and Research Hospital, Istanbul, Türkiye
4Department of Pediatric Cardiology, University of Health Sciences, Umraniye Education and Research Hospital, Istanbul, Türkiye

Fabry disease is a rare disease with multi-organ involvement caused by GLA gene mutations. Even though more than 1000 mutations have been identified in the GLA gene so far, the detection and reporting of new mutations enriches this data. We report on a patient examined at our clinic due to heart valve disease, with a history of kidney transplantation and hemodialysis. We diagnosed Fabry disease with high clinical suspicion and will describe its significant impact on the family. Thanks to effective family screening, we have identified family members who have not yet been affected, thus preventing or mitigating organ involvement that may develop in the future. Besides its clinical benefits, the mutation identified in this family has been rarely reported before and is still described as a variant of uncertain significance (VUS) in some sources. In this respect, we believe it will contribute to the genetic literature as well.

Keywords: Fabry disease, family screening, genetics, GLA gene

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Corresponding Author: Arda Güler
Manuscript Language: English


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