{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,11,8]],"date-time":"2024-11-08T05:24:09Z","timestamp":1731043449117,"version":"3.28.0"},"reference-count":12,"publisher":"Texas Heart Institute Journal","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:p>Fabry disease is an X-linked lysosomal storage disorder. Female carriers were long thought to be asymptomatic; however, research has revealed the opposite. Cardiac conditions are the chief causes of death in women with Fabry disease. Although ventricular tachycardia has been reported in male patients with Fabry disease, it is not thought to be a frequent finding in females. We describe the case of a 50-year-old woman in whom we used 14-day continuous electrocardiographic monitoring to identify nonsustained ventricular tachycardia, after electrocardiograms and 24-hour Holter monitoring failed to detect the arrhythmia. A permanent implantable cardioverter-defibrillator relieved the patient's symptoms. We discuss why this case supports the need for more extensive electrophysiologic evaluation in women who have Fabry disease.<\/jats:p>","DOI":"10.14503\/thij-15-5572","type":"journal-article","created":{"date-parts":[[2016,12,16]],"date-time":"2016-12-16T23:13:42Z","timestamp":1481930022000},"page":"531-533","source":"Crossref","is-referenced-by-count":2,"title":["Ventricular Tachycardia in Fabry Disease Detected in a 50-Year-Old Woman during 14-Day Continuous Cardiac Monitoring"],"prefix":"10.14503","volume":"43","author":[{"given":"Jaime","family":"Silva-Gburek","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Rochford","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Hopkin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John L.","family":"Jefferies","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"5628","reference":[{"key":"i1526-6702-43-6-531-b1","series-title":"Fabry disease: perspectives from 5 years of FOS","article-title":"History of lysosomal storage diseases: an overview","year":"2006","unstructured":"Mehta\n              A\n            , BeckM, LinhartA, Sunder-Plassmann, WidmerU.\n          History of lysosomal storage diseases: an overview. In: MehtaA, BeckM, Sunder-PlassmannG, editors. Fabry disease: perspectives from 5 years of FOS. Oxford (UK): Oxford PharmaGenesis; 2006. Available from: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK11615\/."},{"key":"i1526-6702-43-6-531-b2","series-title":"Fabry disease: perspectives from 5 years of FOS","article-title":"Fabry disease in females: clinical characteristics and effects of enzyme replacement therapy","year":"2006","unstructured":"Deegan\n              PB\n            , B\u00e4hnerF, BarbaM, HughesDA, BeckM.\n          Fabry disease in females: clinical characteristics and effects of enzyme replacement therapy. In: MehtaA, BeckM, Sunder-PlassmannG, editors. Fabry disease: perspectives from 5 years of FOS. Oxford (UK): Oxford PharmaGenesis; 2006. Available from: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK11591\/."},{"issue":"12","key":"i1526-6702-43-6-531-b3","series-title":"Clin Cardiol","first-page":"738","article-title":"Arrhythmias in Fabry cardiomyopathy","volume":"35","year":"2012","unstructured":"Acharya\n              D\n            , RobertsonP, KayGN, JacksonL, WarnockDG, PlumbVJ, TallajJA.\n          Arrhythmias in Fabry cardiomyopathy. Clin Cardiol2012;35(12):738\u201340."},{"issue":"10","key":"i1526-6702-43-6-531-b4","series-title":"Pacing Clin Electrophysiol","first-page":"1142","article-title":"Ventricular tachycardias and dilated cardiomyopathy caused by Fabry disease","volume":"28","year":"2005","unstructured":"Igawa\n              O\n            , MiakeJ, HisatomeI.\n          Ventricular tachycardias and dilated cardiomyopathy caused by Fabry disease. Pacing Clin Electrophysiol2005;28(10):1142\u20133."},{"issue":"2","key":"i1526-6702-43-6-531-b5","series-title":"Card Electrophysiol Clin","first-page":"283","article-title":"Arrhythmias in Fabry cardiomyopathy","volume":"7","year":"2015","unstructured":"Acharya\n              D\n            , DoppalapudiH, TallajJA.\n          Arrhythmias in Fabry cardiomyopathy. Card Electrophysiol Clin2015;7(2):283\u201391."},{"issue":"3","key":"i1526-6702-43-6-531-b6","series-title":"Eur J Clin Invest","first-page":"236","article-title":"Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey","volume":"34","year":"2004","unstructured":"Mehta\n              A\n            , RicciR, WidmerU, DehoutF, Garcia de LorenzoA, KampmannC, \n          et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest2004;34(3):236\u201342."},{"issue":"12","key":"i1526-6702-43-6-531-b7","series-title":"Intern Med J","first-page":"575","article-title":"Clinical features of Fabry's disease in Australian patients","volume":"32","year":"2002","unstructured":"Galanos\n              J\n            , NichollsK, GriggL, KiersL, CrawfordA, BeckerG.\n          Clinical features of Fabry's disease in Australian patients. Intern Med J2002;32(12):575\u201384."},{"issue":"1","key":"i1526-6702-43-6-531-b8","series-title":"Cardiovasc Pathol","first-page":"8","article-title":"The heart in Fabry's disease","volume":"20","year":"2011","unstructured":"Sheppard\n              MN.\n            \n          \n          The heart in Fabry's disease. Cardiovasc Pathol2011;20(1):8\u201314."},{"issue":"11","key":"i1526-6702-43-6-531-b9","series-title":"J Med Genet","first-page":"769","article-title":"Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females","volume":"38","year":"2001","unstructured":"MacDermot\n              KD\n            , HolmesA, MinersAH.\n          Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet2001;38(11):769\u201375."},{"issue":"6","key":"i1526-6702-43-6-531-b10","series-title":"Am J Cardiol","first-page":"842","article-title":"Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease","volume":"96","year":"2005","unstructured":"Shah\n              JS\n            , HughesDA, SachdeyB, TomeM, WardD, LeeP, \n          et al. Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease. Am J Cardiol2005;96(6):842\u20136."},{"key":"i1526-6702-43-6-531-b11","series-title":"Fabry disease: perspectives from 5 years of FOS","article-title":"The heart in Fabry disease","year":"2006","unstructured":"Linhart\n              A.\n            \n          \n          The heart in Fabry disease. In: MehtaA, BeckM, Sunder-PlassmannG, editors. Fabry disease: perspectives from 5 years of FOS. Oxford (UK): Oxford PharmaGenesis; 2006. Available from: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK11576\/."},{"issue":"1","key":"i1526-6702-43-6-531-b12","series-title":"Genet Med","first-page":"34","article-title":"Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life","volume":"9","year":"2007","unstructured":"Wang\n              RY\n            , LelisA, MirochaJ, WilcoxWR.\n          Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Med2007;9(1):34\u201345."}],"container-title":["Texas Heart Institute Journal"],"original-title":[],"link":[{"URL":"https:\/\/thij.kglmeridian.com\/view\/journals\/thij\/43\/6\/article-p531.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/meridian.allenpress.com\/thij\/article-pdf\/43\/6\/531\/1878879\/thij-15-5572.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thij.kglmeridian.com\/downloadpdf\/journals\/thij\/43\/6\/article-p531.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thij.kglmeridian.com\/downloadpdf\/journals\/thij\/43\/6\/article-p531.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,7]],"date-time":"2024-11-07T15:33:34Z","timestamp":1730993614000},"score":1,"resource":{"primary":{"URL":"https:\/\/thij.kglmeridian.com\/view\/journals\/thij\/43\/6\/article-p531.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,12]]},"references-count":12,"journal-issue":{"issue":"6"},"URL":"https:\/\/doi.org\/10.14503\/thij-15-5572","relation":{},"ISSN":["0730-2347","1526-6702"],"issn-type":[{"type":"print","value":"0730-2347"},{"type":"electronic","value":"1526-6702"}],"subject":[],"published":{"date-parts":[[2016,12]]}}}