{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T03:26:25Z","timestamp":1793849185326,"version":"4.6.1"},"reference-count":21,"publisher":"Cambridge University Press (CUP)","issue":"9","license":[{"start":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T00:00:00Z","timestamp":1790553600000},"content-version":"unspecified","delay-in-days":27,"URL":"https:\/\/www.cambridge.org\/core\/terms"},{"start":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T00:00:00Z","timestamp":1790553600000},"content-version":"tdm","delay-in-days":27,"URL":"https:\/\/www.cambridge.org\/tdm\/tdmrep-policy.json"}],"content-domain":{"domain":["cambridge.org"],"crossmark-restriction":true},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Carvajal syndrome is a rare familial cardio-cutaneous disorder characterised by the triad of woolly hair, palmoplantar keratoderma, and dilated cardiomyopathy. It results from mutations in the DSP gene, (p 24) a desmosomal protein crucial for cell adhesion. Defective desmoplakin disrupts myocardial and epidermal integrity, leading to electrical and contractile dysfunction of the heart. The resulting cardiomyopathy progresses to life-threatening congestive heart failure. We describe a 7-year-old boy from Delhi, India, who presented with features of decompensated heart failure along with woolly hair and palmoplantar keratoderma. Genetic sequencing confirmed a homozygous DSP gene mutation with a novel variant, establishing the diagnosis of Carvajal syndrome. This case emphasises the importance of recognising dermatological manifestations as early warning signs of severe underlying cardiac disease.<\/jats:p>","DOI":"10.1017\/s1047951126113353","type":"journal-article","created":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T12:45:51Z","timestamp":1790599551000},"page":"1964-1968","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":0,"title":["The heart\u2013skin connection: Carvajal syndrome in a child with a novel\n                    <i>DSP<\/i>\n                    gene variant\u2014a case report and literature review"],"prefix":"10.1017","volume":"36","author":[{"given":"Shalu","family":"Gupta","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03x8jdc94","id-type":"ROR","asserted-by":"publisher"}],"name":"Lady Hardinge Medical College & Associated Kalawati Saran Children\u2019s 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