{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T08:16:10Z","timestamp":1773821770005,"version":"3.50.1"},"reference-count":14,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2006,10,28]],"date-time":"2006-10-28T00:00:00Z","timestamp":1161993600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2006,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Mutations in PRKAG2, the gene for the \u03b32 regulatory subunit of AMP-activated protein kinase, cause cardiac hypertrophy and electrophysiological abnormalities. We identified a novel mutation in PRKAG2 causing familial ventricular pre-excitation and severe cardiac hypertrophy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results<\/jats:title>\n                    <jats:p>We studied 30 members of one family and 120 healthy controls. Molecular analysis of PRKAG2 gene revealed one missense mutation in exon 14 which was confirmed by restriction enzyme digestion. We identified a G to A transition, resulting in a Glu506Lys substitution in the PRKAG2 gene in 8 of the family members, who all had cardiac hypertrophy and ventricular pre-excitation. High incidence of right ventricular hypertrophy and left ventricular outflow tract obstruction are other prominent features of this novel PRKAG2 mutation. Family members without mutation had no cardiac disease. The 120 unrelated healthy individuals did not show this mutation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Coexistence of unexplained ventricular hypertrophy and pre-excitation should prompt the diagnosis of PRKAG2 mutations and these patients should be referred for genetic analysis. The possible alteration of AMP-activated protein kinase activity due to genetic defects in PRKAG2 may serve as a template for developing more specific therapies in the treatment of patients with this mutation.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1016\/j.ejheart.2006.03.006","type":"journal-article","created":{"date-parts":[[2006,5,23]],"date-time":"2006-05-23T16:51:21Z","timestamp":1148403081000},"page":"712-715","source":"Crossref","is-referenced-by-count":30,"title":["Ventricular Pre-Excitation and Cardiac Hypertrophy Mimicking Hypertrophic Cardiomyopathy in a Turkish Family with a Novel PRKAG2 Mutation"],"prefix":"10.1093","volume":"8","author":[{"given":"Fatih","family":"Bayrak","sequence":"first","affiliation":[{"name":"Department of Cardiology, Kosuyolu Heart and Research Hospital , Istanbul ,","place":["Turkey"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evrim","family":"Komurcu-Bayrak","sequence":"additional","affiliation":[{"name":"Institute for Experimental Medical Research, Department of Genetics, Istanbul University , Istanbul ,","place":["Turkey"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bulent","family":"Mutlu","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Kosuyolu Heart and Research Hospital , Istanbul ,","place":["Turkey"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gokhan","family":"Kahveci","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Kosuyolu Heart and Research Hospital , Istanbul ,","place":["Turkey"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yelda","family":"Basaran","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Kosuyolu Heart and Research Hospital , Istanbul ,","place":["Turkey"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nihan","family":"Erginel-Unaltuna","sequence":"additional","affiliation":[{"name":"Institute for Experimental Medical Research, Department of Genetics, Istanbul University , Istanbul ,","place":["Turkey"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2006,10,28]]},"reference":[{"key":"2026020203533398500_ejhf2006-03-006-bib-0001","doi-asserted-by":"crossref","first-page":"1687","DOI":"10.1016\/S0735-1097(03)00941-0","article-title":"ACC\/ESC clinical expert document on hypertophic cardiomypathy: a report of American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and European Society of Cardiology Committee for Practice Guidelines","volume":"42","author":"Maron","year":"2003","journal-title":"J Am Coll Cardiol"},{"key":"2026020203533398500_ejhf2006-03-006-bib-0002","doi-asserted-by":"crossref","first-page":"1308","DOI":"10.1001\/jama.287.10.1308","article-title":"Hypertrophic cardiomyopathy: a systematic review","volume":"287","author":"Maron","year":"2002","journal-title":"JAMA"},{"key":"2026020203533398500_ejhf2006-03-006-bib-0003","doi-asserted-by":"crossref","first-page":"1699","DOI":"10.1016\/0735-1097(95)00390-8","article-title":"Phenotypic spectrum and patterns of left ventricular hypertrophy in hypertrophic cardiomyopathy: morphologic observations and significance as assessed by two dimensional echocardiography in 600 patients","volume":"26","author":"Klues","year":"1995","journal-title":"J Am Coll Cardiol"},{"key":"2026020203533398500_ejhf2006-03-006-bib-0004","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1056\/NEJM198704023161405","article-title":"Hypertrophic cardiomyopathy. 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