Cargando…

The Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkey

BACKGROUND: The present study aimed to identify the frequency of Fabry disease in patients with cardiac hypertrophy of unknown etiology and to evaluate demographic and clinical characteristics, enzyme activity levels, and genetic mutations at the time of diagnosis. METHODS: This national, multicente...

Descripción completa

Detalles Bibliográficos
Autores principales: Özpelit, Ebru, Çavuşoğlu, Yüksel, Yorgun, Hikmet, Okçün, Emir Özgür Barış, Eker Akıllı, Rabia, Çelik, Ahmet, Ermiş, Necip, Menekşe Gerede Uludağ, Demet, Kahveci, Gökhan, Uslu Çil, Şefika, Erfidan, Erkan, Tüfekçioğlu, Omaç
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Turkish Society of Cardiology 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10098383/
https://www.ncbi.nlm.nih.gov/pubmed/36995061
http://dx.doi.org/10.14744/AnatolJCardiol.2022.2503
_version_ 1785024797042802688
author Özpelit, Ebru
Çavuşoğlu, Yüksel
Yorgun, Hikmet
Okçün, Emir Özgür Barış
Eker Akıllı, Rabia
Çelik, Ahmet
Ermiş, Necip
Menekşe Gerede Uludağ, Demet
Kahveci, Gökhan
Uslu Çil, Şefika
Erfidan, Erkan
Tüfekçioğlu, Omaç
author_facet Özpelit, Ebru
Çavuşoğlu, Yüksel
Yorgun, Hikmet
Okçün, Emir Özgür Barış
Eker Akıllı, Rabia
Çelik, Ahmet
Ermiş, Necip
Menekşe Gerede Uludağ, Demet
Kahveci, Gökhan
Uslu Çil, Şefika
Erfidan, Erkan
Tüfekçioğlu, Omaç
author_sort Özpelit, Ebru
collection PubMed
description BACKGROUND: The present study aimed to identify the frequency of Fabry disease in patients with cardiac hypertrophy of unknown etiology and to evaluate demographic and clinical characteristics, enzyme activity levels, and genetic mutations at the time of diagnosis. METHODS: This national, multicenter, cross-sectional, single-arm, observational registry study was conducted in adult patients with a clinical echocardiographic diagnosis of left ventricular hypertrophy and/or the presence of prominent papillary muscle. In both ­genders, genetic analysis was performed by DNA Sanger sequence analysis. RESULTS: A total of 406 patients with left ventricular hypertrophy of unknown origin were included. Of the patients, 19.5% had decreased enzyme activity (≤2.5 nmol/mL/h). Although genetic analysis revealed GLA (galactosidase alpha) gene mutation in only 2 patients (0.5%), these patients were considered to have probable but not “definite Fabry disease” due to normal lyso Gb3 levels and gene mutations categorized as variants of unknown significance. CONCLUSION: The prevalence of Fabry disease varies according to the characteristics of the population screened and the definition of the disease used in these trials. From cardiology perspective, left ventricular hypertrophy is the major reason to consider screening for Fabry disease. Enzyme testing, genetic analysis, substrate analysis, histopathological examination, and family screening should be performed, when necessary, for a definite diagnosis of Fabry disease. The results of this study underline the importance of the comprehensive use of these diagnostic tools to reach a definite diagnosis. The diagnosis and management of Fabry disease should not be based solely on the results of the screening tests.
format Online
Article
Text
id pubmed-10098383
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher Turkish Society of Cardiology
record_format MEDLINE/PubMed
spelling pubmed-100983832023-04-14 The Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkey Özpelit, Ebru Çavuşoğlu, Yüksel Yorgun, Hikmet Okçün, Emir Özgür Barış Eker Akıllı, Rabia Çelik, Ahmet Ermiş, Necip Menekşe Gerede Uludağ, Demet Kahveci, Gökhan Uslu Çil, Şefika Erfidan, Erkan Tüfekçioğlu, Omaç Anatol J Cardiol Original Investigation BACKGROUND: The present study aimed to identify the frequency of Fabry disease in patients with cardiac hypertrophy of unknown etiology and to evaluate demographic and clinical characteristics, enzyme activity levels, and genetic mutations at the time of diagnosis. METHODS: This national, multicenter, cross-sectional, single-arm, observational registry study was conducted in adult patients with a clinical echocardiographic diagnosis of left ventricular hypertrophy and/or the presence of prominent papillary muscle. In both ­genders, genetic analysis was performed by DNA Sanger sequence analysis. RESULTS: A total of 406 patients with left ventricular hypertrophy of unknown origin were included. Of the patients, 19.5% had decreased enzyme activity (≤2.5 nmol/mL/h). Although genetic analysis revealed GLA (galactosidase alpha) gene mutation in only 2 patients (0.5%), these patients were considered to have probable but not “definite Fabry disease” due to normal lyso Gb3 levels and gene mutations categorized as variants of unknown significance. CONCLUSION: The prevalence of Fabry disease varies according to the characteristics of the population screened and the definition of the disease used in these trials. From cardiology perspective, left ventricular hypertrophy is the major reason to consider screening for Fabry disease. Enzyme testing, genetic analysis, substrate analysis, histopathological examination, and family screening should be performed, when necessary, for a definite diagnosis of Fabry disease. The results of this study underline the importance of the comprehensive use of these diagnostic tools to reach a definite diagnosis. The diagnosis and management of Fabry disease should not be based solely on the results of the screening tests. Turkish Society of Cardiology 2023-04-01 /pmc/articles/PMC10098383/ /pubmed/36995061 http://dx.doi.org/10.14744/AnatolJCardiol.2022.2503 Text en 2023 authors https://creativecommons.org/licenses/by-nc/4.0/ Content of this journal is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. (https://creativecommons.org/licenses/by-nc/4.0/)
spellingShingle Original Investigation
Özpelit, Ebru
Çavuşoğlu, Yüksel
Yorgun, Hikmet
Okçün, Emir Özgür Barış
Eker Akıllı, Rabia
Çelik, Ahmet
Ermiş, Necip
Menekşe Gerede Uludağ, Demet
Kahveci, Gökhan
Uslu Çil, Şefika
Erfidan, Erkan
Tüfekçioğlu, Omaç
The Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkey
title The Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkey
title_full The Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkey
title_fullStr The Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkey
title_full_unstemmed The Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkey
title_short The Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkey
title_sort frequency of fabry disease in patients with cardiac hypertrophy of various phenotypes including prominent papillary muscle: the tucarfab study in turkey
topic Original Investigation
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10098383/
https://www.ncbi.nlm.nih.gov/pubmed/36995061
http://dx.doi.org/10.14744/AnatolJCardiol.2022.2503
work_keys_str_mv AT ozpelitebru thefrequencyoffabrydiseaseinpatientswithcardiachypertrophyofvariousphenotypesincludingprominentpapillarymusclethetucarfabstudyinturkey
AT cavusogluyuksel thefrequencyoffabrydiseaseinpatientswithcardiachypertrophyofvariousphenotypesincludingprominentpapillarymusclethetucarfabstudyinturkey
AT yorgunhikmet thefrequencyoffabrydiseaseinpatientswithcardiachypertrophyofvariousphenotypesincludingprominentpapillarymusclethetucarfabstudyinturkey
AT okcunemirozgurbarıs thefrequencyoffabrydiseaseinpatientswithcardiachypertrophyofvariousphenotypesincludingprominentpapillarymusclethetucarfabstudyinturkey
AT ekerakıllırabia thefrequencyoffabrydiseaseinpatientswithcardiachypertrophyofvariousphenotypesincludingprominentpapillarymusclethetucarfabstudyinturkey
AT celikahmet thefrequencyoffabrydiseaseinpatientswithcardiachypertrophyofvariousphenotypesincludingprominentpapillarymusclethetucarfabstudyinturkey
AT ermisnecip thefrequencyoffabrydiseaseinpatientswithcardiachypertrophyofvariousphenotypesincludingprominentpapillarymusclethetucarfabstudyinturkey
AT meneksegeredeuludagdemet thefrequencyoffabrydiseaseinpatientswithcardiachypertrophyofvariousphenotypesincludingprominentpapillarymusclethetucarfabstudyinturkey
AT kahvecigokhan thefrequencyoffabrydiseaseinpatientswithcardiachypertrophyofvariousphenotypesincludingprominentpapillarymusclethetucarfabstudyinturkey
AT uslucilsefika thefrequencyoffabrydiseaseinpatientswithcardiachypertrophyofvariousphenotypesincludingprominentpapillarymusclethetucarfabstudyinturkey
AT erfidanerkan thefrequencyoffabrydiseaseinpatientswithcardiachypertrophyofvariousphenotypesincludingprominentpapillarymusclethetucarfabstudyinturkey
AT tufekciogluomac thefrequencyoffabrydiseaseinpatientswithcardiachypertrophyofvariousphenotypesincludingprominentpapillarymusclethetucarfabstudyinturkey
AT ozpelitebru frequencyoffabrydiseaseinpatientswithcardiachypertrophyofvariousphenotypesincludingprominentpapillarymusclethetucarfabstudyinturkey
AT cavusogluyuksel frequencyoffabrydiseaseinpatientswithcardiachypertrophyofvariousphenotypesincludingprominentpapillarymusclethetucarfabstudyinturkey
AT yorgunhikmet frequencyoffabrydiseaseinpatientswithcardiachypertrophyofvariousphenotypesincludingprominentpapillarymusclethetucarfabstudyinturkey
AT okcunemirozgurbarıs frequencyoffabrydiseaseinpatientswithcardiachypertrophyofvariousphenotypesincludingprominentpapillarymusclethetucarfabstudyinturkey
AT ekerakıllırabia frequencyoffabrydiseaseinpatientswithcardiachypertrophyofvariousphenotypesincludingprominentpapillarymusclethetucarfabstudyinturkey
AT celikahmet frequencyoffabrydiseaseinpatientswithcardiachypertrophyofvariousphenotypesincludingprominentpapillarymusclethetucarfabstudyinturkey
AT ermisnecip frequencyoffabrydiseaseinpatientswithcardiachypertrophyofvariousphenotypesincludingprominentpapillarymusclethetucarfabstudyinturkey
AT meneksegeredeuludagdemet frequencyoffabrydiseaseinpatientswithcardiachypertrophyofvariousphenotypesincludingprominentpapillarymusclethetucarfabstudyinturkey
AT kahvecigokhan frequencyoffabrydiseaseinpatientswithcardiachypertrophyofvariousphenotypesincludingprominentpapillarymusclethetucarfabstudyinturkey
AT uslucilsefika frequencyoffabrydiseaseinpatientswithcardiachypertrophyofvariousphenotypesincludingprominentpapillarymusclethetucarfabstudyinturkey
AT erfidanerkan frequencyoffabrydiseaseinpatientswithcardiachypertrophyofvariousphenotypesincludingprominentpapillarymusclethetucarfabstudyinturkey
AT tufekciogluomac frequencyoffabrydiseaseinpatientswithcardiachypertrophyofvariousphenotypesincludingprominentpapillarymusclethetucarfabstudyinturkey