{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T23:17:09Z","timestamp":1790637429650,"version":"4.1.0"},"reference-count":10,"publisher":"Cambridge University Press (CUP)","issue":"5","license":[{"start":{"date-parts":[[2024,3,4]],"date-time":"2024-03-04T00:00:00Z","timestamp":1709510400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":["cambridge.org"],"crossmark-restriction":true},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec id=\"S1047951124000222_as1\"><jats:title>Objectives:<\/jats:title><jats:p>Carvajal syndrome is a very rare autosomal recessive cardiocutaneous disorder caused by a desmosomal mutation in exon 24 of the desmoplakin gene. It manifests with woolly hair, epidermolytic palmoplantar keratoderma, and arrhythmogenic right ventricular cardiomyopathy. We herein present a patient with heart failure and dilated cardiomyopathy who was diagnosed with Carvajal syndrome because of dermatologic manifestations.<\/jats:p><\/jats:sec><jats:sec id=\"S1047951124000222_as2\"><jats:title>Case Presentation:<\/jats:title><jats:p>A seven-year-old girl was referred to our clinic due to decompensated heart failure and clinical deterioration. The patient had severe weakness, tachycardia, and tachypnea. She had a complaint of getting tired quickly for three weeks, and she had shortness of breath and abdominal pain for the last two days. She had hepatomegaly and woolly hair. Mild keratoderma was present on the soles of her feet. Echocardiography demonstrated biventricular dilatation, significantly impaired left ventricular systolic function (ejection fraction 22%), and moderate to severe mitral and tricuspid regurgitation. Molecular genetic evaluation was performed because of cutaneous and cardiac findings, which demonstrated a desmoplakin gene mutation. Homozygous mutation c.4297C &gt; T (p.Gln1433*) was identified in desmoplakin gene, and the diagnosis of Carvajal syndrome was confirmed.<\/jats:p><\/jats:sec><jats:sec id=\"S1047951124000222_as3\"><jats:title>Conclusions:<\/jats:title><jats:p>Syndromic types of arrhythmogenic right ventricular cardiomyopathy such as Carvajal syndrome are rare diseases. Awareness about cutaneous manifestations and genetic evaluation would help diagnosis and prevention of sudden death. Genetic counselling is needed in familial cases.<\/jats:p><\/jats:sec>","DOI":"10.1017\/s1047951124000222","type":"journal-article","created":{"date-parts":[[2024,3,4]],"date-time":"2024-03-04T07:26:57Z","timestamp":1709537217000},"page":"1131-1133","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":3,"title":["A case of Carvajal syndrome presenting with dilated cardiomyopathy"],"prefix":"10.1017","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0532-6782","authenticated-orcid":false,"given":"Sule","family":"Ar\u0131c\u0131","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Figen","family":"Akal\u0131n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bilgen Bilge","family":"Geckinli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2024,3,4]]},"reference":[{"key":"S1047951124000222_ref1","doi-asserted-by":"crossref","first-page":"2761","DOI":"10.1093\/hmg\/9.18.2761","article-title":"Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma","volume":"9","author":"Norgett","year":"2000","journal-title":"Hum Mol Genet"},{"key":"S1047951124000222_ref3","doi-asserted-by":"crossref","first-page":"1770","DOI":"10.1093\/europace\/euv042","article-title":"Traditional vs. genetic pathogenesis of arrhythmogenic right ventricular cardiomyopathy","volume":"17","author":"Que","year":"2015","journal-title":"Europace"},{"key":"S1047951124000222_ref5","doi-asserted-by":"crossref","first-page":"1744","DOI":"10.1136\/hrt.2011.227967","article-title":"Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study","volume":"97","author":"Garcia-Pavia","year":"2011","journal-title":"Heart"},{"key":"S1047951124000222_ref2","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/S1054-8807(03)00107-8","article-title":"Structural and molecular pathology of the heart in Carvajal syndrome","volume":"13","author":"Kaplan","year":"2004","journal-title":"Cardiovasc Pathol"},{"key":"S1047951124000222_ref9","doi-asserted-by":"crossref","first-page":"1485","DOI":"10.1016\/j.jacc.2011.06.043","article-title":"Incidence and predictors of implantable cardioverter-defibrillator therapy in patients with arrhythmogenic right ventricular dysplasia\/cardiomyopathy undergoing implantable cardioverter-defibrillator implantation for primary prevention","volume":"58","author":"Bhonsale","year":"2011","journal-title":"J Am Coll Cardiol"},{"key":"S1047951124000222_ref4","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ymgmr.2016.05.005","article-title":"Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe)","volume":"8","author":"Finsterer","year":"2016","journal-title":"Mol Genet Metab Rep"},{"key":"S1047951124000222_ref10","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1111\/ped.13683","article-title":"Arrhythmogenic right ventricular dysplasia, cutaneous manifestations and desmoplakin mutation: Carvajal syndrome","volume":"60","author":"Erolu","year":"2018","journal-title":"Pediatr Int"},{"key":"S1047951124000222_ref6","first-page":"e370","article-title":"A nine-year-old girl with left ventricle non-compaction and skin lesions (Carvajal syndrome)","volume":"25","author":"Mohammadpour","year":"2015","journal-title":"Iran J Pediatr"},{"key":"S1047951124000222_ref8","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1007\/s00441-012-1351-6","article-title":"Evidence for genetic heterogeneity in Carvajal syndrome","volume":"348","author":"Nehme","year":"2012","journal-title":"Cell Tissue Res"},{"key":"S1047951124000222_ref7","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1007\/s00392-011-0345-9","article-title":"Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma","volume":"100","author":"Williams","year":"2011","journal-title":"Clini Res Cardiol"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1047951124000222","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,21]],"date-time":"2025-03-21T11:09:43Z","timestamp":1742555383000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1047951124000222\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,4]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,5]]}},"alternative-id":["S1047951124000222"],"URL":"https:\/\/doi.org\/10.1017\/s1047951124000222","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"value":"1047-9511","type":"print"},{"value":"1467-1107","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,4]]},"assertion":[{"value":"\u00a9 The Author(s), 2024. Published by Cambridge University Press","name":"copyright","label":"Copyright","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}}]}}