{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,3,29]],"date-time":"2022-03-29T07:59:30Z","timestamp":1648540770586},"reference-count":22,"publisher":"International Heart Journal (Japanese Heart Journal)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int. Heart J."],"published-print":{"date-parts":[[2017]]},"DOI":"10.1536\/ihj.17-142","type":"journal-article","created":{"date-parts":[[2017,5,22]],"date-time":"2017-05-22T22:13:31Z","timestamp":1495491211000},"page":"305-306","source":"Crossref","is-referenced-by-count":1,"title":["Fabry Disease and\/or Hypertrophic Cardiomyopathy"],"prefix":"10.1536","volume":"58","author":[{"given":"Ryuichiro","family":"Anan","sequence":"first","affiliation":[{"name":"Clinical Research Unit, National Miyakonojo Medical Center"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"437","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Burke MA, Cook SA, Seidman JG, Seidman CE. Clinical and mechanistic insights into the genetics of cardiomyopathy. J Am Coll Cardiol 2016; 68: 2871-86. (Review)","DOI":"10.1016\/j.jacc.2016.08.079"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Arbustini E, Narula N, Dec GW, <i>et al<\/i>. The MOGE(S) classification for a phenotype-genotype nomenclature of cardiomyopathy: endorsed by the World Heart Federation. J Am Coll Cardiol 2013; 62: 2046-72.","DOI":"10.1016\/j.jacc.2013.08.1644"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Arbustini E, Narula N, Tavazzi L, <i>et al<\/i>. The MOGE(S) classification of cardiomyopathy for clinicians. J Am Coll Cardiol 2014; 64: 304-18.","DOI":"10.1016\/j.jacc.2014.05.027"},{"key":"4","unstructured":"4. Mehta A, Hughes DA. Fabry Disease: Synonyms: Anderson-Fabry disease, alpha galactosidase A deficiency. In: Pagon RA, Adam MP, Ardinger HH, <i>et al<\/i>. eds. <i>GeneReviews<\/i><sup>\u00ae<\/sup> <i>[Internet]<\/i>. Seattle, WA: University of Washington, Seattle; 1993-2017. 2002 Aug 5. Available at: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1292\/"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Nakao S, Takenaka T, Maeda M, <i>et al<\/i>. An atypical variant of Fabry\u2019s disease in men with left ventricular hypertrophy. N Engl J Med 1995; 333: 288-93.","DOI":"10.1056\/NEJM199508033330504"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Takenaka T, Teraguchi H, Yoshida A, <i>et al<\/i>. Terminal stage cardiac findings in patients with cardiac Fabry disease: an electrocardiographic, echocardiographic, and autopsy study. J Cardiol 2008; 51: 50-9.","DOI":"10.1016\/j.jjcc.2007.12.001"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Seydelmann N, Wanner C, St\u00f6rk S, Ertl G, Weidemann F. Fabry disease and the heart. Best Pract Res Clin Endocrinol Metab 2015; 29: 195-204.","DOI":"10.1016\/j.beem.2014.10.003"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Gersh BJ, Maron BJ, Bonow RO, <i>et al<\/i>. 2011 ACCF\/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation\/American Heart Association Task Force on Practice Guidelines. Circulation 2011; 124: e783-831.","DOI":"10.1161\/CIR.0b013e318223e2bd"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Elliott PM, Anastasakis A, Borger MA, <i>et al<\/i>. 2014 ESC guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J 2014; 35: 2733-79.","DOI":"10.1093\/eurheartj\/ehu284"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Ho CY, Charron P, Richard P, Girolami F, Van Spaendonck-Zwarts KY, Pinto Y. Genetic advances in sarcomeric cardiomyopathies: state of the art. Cardiovasc Res 2015; 105: 397-408. (Review)","DOI":"10.1093\/cvr\/cvv025"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Kimura A. Molecular genetics and pathogenesis of cardiomyopathy. J Hum Genet 2016; 61: 41-50. (Review)","DOI":"10.1038\/jhg.2015.83"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Cs\u00e1nyi B, Hategan L, Nagy V, <i>et al<\/i>. Identification of a novel GLA gene mutation, p.Ile239Met, in Fabry disease with a predominant cardiac phenotype. Int Heart J 2017; 58: 454-8.","DOI":"10.1536\/ihj.16-361"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Kotanko P, Kramar R, Devrnja D, <i>et al<\/i>. Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol 2004; 15: 1323-9.","DOI":"10.1097\/01.ASN.0000124671.61963.1E"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Smid BE, van der Tol L, Cecchi F, <i>et al<\/i>. Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance. Int J Cardiol 2014; 177: 400-8. (Review)","DOI":"10.1016\/j.ijcard.2014.09.001"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Richards S, Aziz N, Bale S, <i>et al<\/i>. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17: 405-24.","DOI":"10.1038\/gim.2015.30"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Klues HG, Schiffers A, Maron BJ. Phenotypic spectrum and patterns of left ventricular hypertrophy in hypertrophic cardiomyopathy: morphologic observations and significance as assessed by two-dimensional echocardiography in 600 patients. J Am Coll Cardiol 1995; 26: 1699-708.","DOI":"10.1016\/0735-1097(95)00390-8"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Anan R, Shono H, Kisanuki A, Arima S, Nakao S, Tanaka H. Patients with familial hypertrophic cardiomyopathy caused by a Phe110Ile missense mutation in the cardiac troponin T gene have variable cardiac morphologies and a favorable prognosis. Circulation 1998; 98: 391-7.","DOI":"10.1161\/01.CIR.98.5.391"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Maron MS, Maron BJ, Harrigan C, <i>et al<\/i>. Hypertrophic cardiomyopathy phenotype revisited after 50 years with cardiovascular magnetic resonance. J Am Coll Cardiol 2009; 54: 220-8.","DOI":"10.1016\/j.jacc.2009.05.006"},{"key":"19","unstructured":"19. Bargman JM, Skorecki K. Chronic kidney disease. In: Kasper DL, Hauser SL, Jameson JL, Fauci AS, Longo DL, Loscalzo J, eds. <i>Harrison\u2019s principles of internal medicine.<\/i> 19th ed. New York, NY: McGraw-Hill Education; 2015: 1811-21."},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Oikawa M, Sakamoto N, Kobayashi A, <i>et al<\/i>. Familial hypertrophic obstructive cardiomyopathy with the GLA E66Q mutation and zebra body. BMC Cardiovasc Disord 2016; 16: 83.","DOI":"10.1186\/s12872-016-0262-y"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Hastings R, de Villiers CP, Hooper C, <i>et al<\/i>. Combination of whole genome sequencing, linkage, and functional studies implicates a missense mutation in titin as a cause of autosomal dominant cardiomyopathy with features of left ventricular noncompaction. Circ Cardiovasc Genet 2016; 9: 426-35.","DOI":"10.1161\/CIRCGENETICS.116.001431"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Seidelmann SB, Smith E, Subrahmanyan L, <i>et al<\/i>. Application of whole exome sequencing in the clinical diagnosis and management of inherited cardiovascular diseases in adults. Circ Cardiovasc Genet 2017; 10: e001573.","DOI":"10.1161\/CIRCGENETICS.116.001573"}],"container-title":["International Heart Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/ihj\/58\/3\/58_17-142\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,9,24]],"date-time":"2019-09-24T23:04:19Z","timestamp":1569366259000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/ihj\/58\/3\/58_17-142\/_article"}},"subtitle":["Only One Mutation in a Family?"],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":22,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017]]}},"URL":"https:\/\/doi.org\/10.1536\/ihj.17-142","relation":{},"ISSN":["1349-2365","1349-3299"],"issn-type":[{"value":"1349-2365","type":"print"},{"value":"1349-3299","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017]]}}}