Cargando…

High Prevalence of Late-Onset Fabry Cardiomyopathy in a Cohort of 499 Non-Selective Patients with Left Ventricular Hypertrophy: The Asian Fabry Cardiomyopathy High-Risk Screening Study (ASIAN-FAME)

Left ventricular hypertrophy (LVH) caused by cardiac variant Fabry disease (FD) is typically late-onset and may mimic LVH caused by abnormal loading conditions. We aimed to determine the prevalence of FD in a non-selective patient population of everyday practice presenting with LVH, including those...

Descripción completa

Detalles Bibliográficos
Autores principales: Fan, Yiting, Chan, Tsz-Ngai, Chow, Josie T. Y., Kam, Kevin K. H., Chi, Wai-Kin, Chan, Joseph Y. S., Fung, Erik, Tong, Mabel M. P., Wong, Jeffery K. T., Choi, Paul C. L., Chan, David K. H., Sheng, Bun, Lee, Alex Pui-Wai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8157141/
https://www.ncbi.nlm.nih.gov/pubmed/34067605
http://dx.doi.org/10.3390/jcm10102160
_version_ 1783699614656888832
author Fan, Yiting
Chan, Tsz-Ngai
Chow, Josie T. Y.
Kam, Kevin K. H.
Chi, Wai-Kin
Chan, Joseph Y. S.
Fung, Erik
Tong, Mabel M. P.
Wong, Jeffery K. T.
Choi, Paul C. L.
Chan, David K. H.
Sheng, Bun
Lee, Alex Pui-Wai
author_facet Fan, Yiting
Chan, Tsz-Ngai
Chow, Josie T. Y.
Kam, Kevin K. H.
Chi, Wai-Kin
Chan, Joseph Y. S.
Fung, Erik
Tong, Mabel M. P.
Wong, Jeffery K. T.
Choi, Paul C. L.
Chan, David K. H.
Sheng, Bun
Lee, Alex Pui-Wai
author_sort Fan, Yiting
collection PubMed
description Left ventricular hypertrophy (LVH) caused by cardiac variant Fabry disease (FD) is typically late-onset and may mimic LVH caused by abnormal loading conditions. We aimed to determine the prevalence of FD in a non-selective patient population of everyday practice presenting with LVH, including those with hypertension and valve disease. We measured plasma alpha-galactosidase A activity using dried blood spot tests in 499 (age = 66 ± 13 years; 336 men) Hong Kong Chinese patients with LVH defined as maximal LV septal/posterior wall thickness ≥13 mm on echocardiography. Patients with low enzyme activity underwent mutation analysis of the GLA gene. Eight (age = 53−74 years; all men) unrelated patients (1.6%) had low plasma alpha-galactosidase A activity (0.57 ± 0.27 μmol/L wb/hr) and all were confirmed to have the GLA IVS4 + 919G > A mutation. FD patients presented with heart failure (n = 5), heart block (n = 2), ventricular tachycardia (n = 1), chest pain (n = 3), and/or murmur (n = 1). Uncontrolled hypertension (n = 4) and/or severe mitral/aortic valve pathology (n = 2) were frequent. Ethnic subgroups included Teochew (n = 5), Canton (n = 2), and Wenzhou (n = 1). Endomyocardial biopsy (n = 6) revealed hypertrophic myocytes with vacuolization and dense lamellar bodies. Late-onset IVS4 + 919G > A FD is prevalent among Chinese LVH patients, and should be considered as a cause of LVH in adult patients even when hypertension and/or valve pathology are present.
format Online
Article
Text
id pubmed-8157141
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-81571412021-05-28 High Prevalence of Late-Onset Fabry Cardiomyopathy in a Cohort of 499 Non-Selective Patients with Left Ventricular Hypertrophy: The Asian Fabry Cardiomyopathy High-Risk Screening Study (ASIAN-FAME) Fan, Yiting Chan, Tsz-Ngai Chow, Josie T. Y. Kam, Kevin K. H. Chi, Wai-Kin Chan, Joseph Y. S. Fung, Erik Tong, Mabel M. P. Wong, Jeffery K. T. Choi, Paul C. L. Chan, David K. H. Sheng, Bun Lee, Alex Pui-Wai J Clin Med Article Left ventricular hypertrophy (LVH) caused by cardiac variant Fabry disease (FD) is typically late-onset and may mimic LVH caused by abnormal loading conditions. We aimed to determine the prevalence of FD in a non-selective patient population of everyday practice presenting with LVH, including those with hypertension and valve disease. We measured plasma alpha-galactosidase A activity using dried blood spot tests in 499 (age = 66 ± 13 years; 336 men) Hong Kong Chinese patients with LVH defined as maximal LV septal/posterior wall thickness ≥13 mm on echocardiography. Patients with low enzyme activity underwent mutation analysis of the GLA gene. Eight (age = 53−74 years; all men) unrelated patients (1.6%) had low plasma alpha-galactosidase A activity (0.57 ± 0.27 μmol/L wb/hr) and all were confirmed to have the GLA IVS4 + 919G > A mutation. FD patients presented with heart failure (n = 5), heart block (n = 2), ventricular tachycardia (n = 1), chest pain (n = 3), and/or murmur (n = 1). Uncontrolled hypertension (n = 4) and/or severe mitral/aortic valve pathology (n = 2) were frequent. Ethnic subgroups included Teochew (n = 5), Canton (n = 2), and Wenzhou (n = 1). Endomyocardial biopsy (n = 6) revealed hypertrophic myocytes with vacuolization and dense lamellar bodies. Late-onset IVS4 + 919G > A FD is prevalent among Chinese LVH patients, and should be considered as a cause of LVH in adult patients even when hypertension and/or valve pathology are present. MDPI 2021-05-17 /pmc/articles/PMC8157141/ /pubmed/34067605 http://dx.doi.org/10.3390/jcm10102160 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Fan, Yiting
Chan, Tsz-Ngai
Chow, Josie T. Y.
Kam, Kevin K. H.
Chi, Wai-Kin
Chan, Joseph Y. S.
Fung, Erik
Tong, Mabel M. P.
Wong, Jeffery K. T.
Choi, Paul C. L.
Chan, David K. H.
Sheng, Bun
Lee, Alex Pui-Wai
High Prevalence of Late-Onset Fabry Cardiomyopathy in a Cohort of 499 Non-Selective Patients with Left Ventricular Hypertrophy: The Asian Fabry Cardiomyopathy High-Risk Screening Study (ASIAN-FAME)
title High Prevalence of Late-Onset Fabry Cardiomyopathy in a Cohort of 499 Non-Selective Patients with Left Ventricular Hypertrophy: The Asian Fabry Cardiomyopathy High-Risk Screening Study (ASIAN-FAME)
title_full High Prevalence of Late-Onset Fabry Cardiomyopathy in a Cohort of 499 Non-Selective Patients with Left Ventricular Hypertrophy: The Asian Fabry Cardiomyopathy High-Risk Screening Study (ASIAN-FAME)
title_fullStr High Prevalence of Late-Onset Fabry Cardiomyopathy in a Cohort of 499 Non-Selective Patients with Left Ventricular Hypertrophy: The Asian Fabry Cardiomyopathy High-Risk Screening Study (ASIAN-FAME)
title_full_unstemmed High Prevalence of Late-Onset Fabry Cardiomyopathy in a Cohort of 499 Non-Selective Patients with Left Ventricular Hypertrophy: The Asian Fabry Cardiomyopathy High-Risk Screening Study (ASIAN-FAME)
title_short High Prevalence of Late-Onset Fabry Cardiomyopathy in a Cohort of 499 Non-Selective Patients with Left Ventricular Hypertrophy: The Asian Fabry Cardiomyopathy High-Risk Screening Study (ASIAN-FAME)
title_sort high prevalence of late-onset fabry cardiomyopathy in a cohort of 499 non-selective patients with left ventricular hypertrophy: the asian fabry cardiomyopathy high-risk screening study (asian-fame)
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8157141/
https://www.ncbi.nlm.nih.gov/pubmed/34067605
http://dx.doi.org/10.3390/jcm10102160
work_keys_str_mv AT fanyiting highprevalenceoflateonsetfabrycardiomyopathyinacohortof499nonselectivepatientswithleftventricularhypertrophytheasianfabrycardiomyopathyhighriskscreeningstudyasianfame
AT chantszngai highprevalenceoflateonsetfabrycardiomyopathyinacohortof499nonselectivepatientswithleftventricularhypertrophytheasianfabrycardiomyopathyhighriskscreeningstudyasianfame
AT chowjosiety highprevalenceoflateonsetfabrycardiomyopathyinacohortof499nonselectivepatientswithleftventricularhypertrophytheasianfabrycardiomyopathyhighriskscreeningstudyasianfame
AT kamkevinkh highprevalenceoflateonsetfabrycardiomyopathyinacohortof499nonselectivepatientswithleftventricularhypertrophytheasianfabrycardiomyopathyhighriskscreeningstudyasianfame
AT chiwaikin highprevalenceoflateonsetfabrycardiomyopathyinacohortof499nonselectivepatientswithleftventricularhypertrophytheasianfabrycardiomyopathyhighriskscreeningstudyasianfame
AT chanjosephys highprevalenceoflateonsetfabrycardiomyopathyinacohortof499nonselectivepatientswithleftventricularhypertrophytheasianfabrycardiomyopathyhighriskscreeningstudyasianfame
AT fungerik highprevalenceoflateonsetfabrycardiomyopathyinacohortof499nonselectivepatientswithleftventricularhypertrophytheasianfabrycardiomyopathyhighriskscreeningstudyasianfame
AT tongmabelmp highprevalenceoflateonsetfabrycardiomyopathyinacohortof499nonselectivepatientswithleftventricularhypertrophytheasianfabrycardiomyopathyhighriskscreeningstudyasianfame
AT wongjefferykt highprevalenceoflateonsetfabrycardiomyopathyinacohortof499nonselectivepatientswithleftventricularhypertrophytheasianfabrycardiomyopathyhighriskscreeningstudyasianfame
AT choipaulcl highprevalenceoflateonsetfabrycardiomyopathyinacohortof499nonselectivepatientswithleftventricularhypertrophytheasianfabrycardiomyopathyhighriskscreeningstudyasianfame
AT chandavidkh highprevalenceoflateonsetfabrycardiomyopathyinacohortof499nonselectivepatientswithleftventricularhypertrophytheasianfabrycardiomyopathyhighriskscreeningstudyasianfame
AT shengbun highprevalenceoflateonsetfabrycardiomyopathyinacohortof499nonselectivepatientswithleftventricularhypertrophytheasianfabrycardiomyopathyhighriskscreeningstudyasianfame
AT leealexpuiwai highprevalenceoflateonsetfabrycardiomyopathyinacohortof499nonselectivepatientswithleftventricularhypertrophytheasianfabrycardiomyopathyhighriskscreeningstudyasianfame