{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T06:16:22Z","timestamp":1774505782570,"version":"3.50.1"},"reference-count":5,"publisher":"BMJ","issue":"18","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Heart"],"accepted":{"date-parts":[[2016,4,16]]},"published-print":{"date-parts":[[2016,9,15]]},"abstract":"<jats:sec id=\"s1\">\n                  <jats:title>Clinical introduction<\/jats:title>\n                  <jats:p>A previously healthy 12-year-old boy presented with chest pain and dyspnoea. ECG (figure\u00a01), echocardiogram (figure\u00a02) and myocardial MRI (figure\u00a03) were performed.<\/jats:p>\n                  <jats:p>Electromyography revealed mild proximal weakness. Blood tests showed creatine kinase 997\u2005UI\/L, aspartate transaminase 398\u2005UI\/L, alanine transaminase 293\u2005UI\/L and lactate deshidrogenase 1730\u2005UI\/L. Ophthalmology test showed diffuse loss of pigment in the retinal pigment epithelium. Myocardial biopsy was performed (figure\u00a04). A cardiomyopathy was suspected. LAMP2 gene was sequenced, and a stop mutation was identified.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"s2\">\n                  <jats:title>Question<\/jats:title>\n                  <jats:p>What is the most likely diagnosis suggested based on the patient\u2019s tests and history?\n<jats:list list-type=\"alpha-upper\">\n                        <jats:list-item>\n                           <jats:p>Danon\u2019s disease.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                           <jats:p>Fabry\u2019s disease.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                           <jats:p>Hypertrophic cardiomyopathy.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                           <jats:p>Noonan\u2019s syndrome.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                           <jats:p>Pompe\u2019s disease.<\/jats:p>\n                        <\/jats:list-item>\n                     <\/jats:list>\n                  <\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/heartjnl-2016-309394","type":"journal-article","created":{"date-parts":[[2016,5,5]],"date-time":"2016-05-05T00:39:16Z","timestamp":1462408756000},"page":"1485-1485","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["A 12-year-old boy with chest pain and dyspnoea"],"prefix":"10.1136","volume":"102","author":[{"given":"Libertad","family":"Latorre Navarro","sequence":"first","affiliation":[{"name":"Department of Pediatric Cardiology, Hospital Universitario La Paz, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis","family":"Garc\u00eda-Guereta Silva","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, Hospital Universitario La Paz, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Ru\u00edz Bravo-Burguillos","sequence":"additional","affiliation":[{"name":"Anatom\u00eda Patol\u00f3gica, Hospital Universitario La Paz, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2016,5,4]]},"reference":[{"key":"2025092006124576000_102.18.1485.1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCHEARTFAILURE.114.001105"},{"key":"2025092006124576000_102.18.1485.2","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2012.72"},{"key":"2025092006124576000_102.18.1485.3","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2009.371"},{"key":"2025092006124576000_102.18.1485.4","doi-asserted-by":"publisher","DOI":"10.1111\/j.1540-8159.2009.02381.x"},{"key":"2025092006124576000_102.18.1485.5","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.104.530303"}],"container-title":["Heart"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/heartjnl-2016-309394","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T13:12:54Z","timestamp":1758373974000},"score":1,"resource":{"primary":{"URL":"https:\/\/heart.bmj.com\/lookup\/doi\/10.1136\/heartjnl-2016-309394"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,5,4]]},"references-count":5,"journal-issue":{"issue":"18","published-online":{"date-parts":[[2016,8,24]]},"published-print":{"date-parts":[[2016,9,15]]}},"alternative-id":["10.1136\/heartjnl-2016-309394"],"URL":"https:\/\/doi.org\/10.1136\/heartjnl-2016-309394","relation":{},"ISSN":["1355-6037","1468-201X"],"issn-type":[{"value":"1355-6037","type":"print"},{"value":"1468-201X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,5,4]]}}}