{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T11:53:05Z","timestamp":1785498785745,"version":"3.56.0"},"reference-count":42,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,4,25]],"date-time":"2022-04-25T00:00:00Z","timestamp":1650844800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Cardiovasc. Med."],"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>Aim of this study was to evaluate, in a metropolitan area not already explored, the prevalence of Anderson\u2013Fabry disease, by genetic screening, in patients with echocardiographic evidence of left ventricular hypertrophy (LVH) of unknown origin and \u201cclinical red flags\u201d.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>From August 2016 to October 2017, all consecutive patients referring to our echo-lab for daily hospital practices with echocardiographic evidence of LVH of unknown origin in association with history of at least one of the classical signs and symptoms related to Fabry disease (FD) (neuropathic pain, anhidrosis\/hypohidrosis, angiokeratomas, gastrointestinal problems, chronic kidney disease, or cerebrovascular complications) were considered eligible for the FD genetic screening program. Through dried blood spot testing, \u03b1-Galactosidase A (\u03b1-Gal A) activity and analysis of the <jats:italic>GLA<\/jats:italic> gene were performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among 3,360 patients who underwent transthoracic echocardiography in our echo-lab during the study period, 30 patients (0.89%; 19 men, mean age 58 \u00b1 18.2 years) were selected. FD was diagnosed in 3 (10%) unrelated patients. Three different <jats:italic>GLA<\/jats:italic> gene mutations were detected, one of them [mutation c.388A &amp;gt; G (p.Lys130Glu) in exon 3] never described before. Moreover, probands' familiar genetic screening allowed the identification of 5 other subjects affected by FD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In a metropolitan area not previously investigated, among patients with LVH of unknown origin associated with other \u201cred flags,\u201d undergoing genetic screening, the prevalence of FD was very high (10%). Our results highlight the importance of an echocardiographic- and clinical-oriented genetic screening for FD in patients with uncommon cause of LVH.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fcvm.2022.838200","type":"journal-article","created":{"date-parts":[[2022,4,25]],"date-time":"2022-04-25T06:37:33Z","timestamp":1650868653000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":7,"title":["Importance of Echocardiography and Clinical \u201cRed Flags\u201d in Guiding Genetic Screening for Fabry 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