ArticleFrontiers in cardiovascular medicine2025
Case Report: The carney complex led to the tragic passing of a young girl in the prime of her life.
Article in Frontiers in cardiovascular medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objective: We identified a novel mutation in the protein kinase cAMP-dependent type I regulatory subunit α ( Case presentation: A 12-year-old girl was referred to the Department of Cardiac Surgery at our hospital due to multiple cardiac myxomas. She had previously undergone two surgical resections of cardiac myxoma, both of which recurred shortly after the procedures. Physical examination revealed a blood pressure of 118/76 mmHg, body weight of 43 kg, height of 158 cm, and body mass index of 17.2 kg/m². No obvious skin pigmentation or nevi were observed. Whole-exome sequencing revealed a mutation in Discussion: CNC is a rare autosomal dominant endocrine neoplasia syndrome, with approximately 53% of affected individuals having a history of cardiac myxoma. This condition should be suspected in patients initially diagnosed with multiple cardiac myxomas. Early diagnosis and treatment through multidisciplinary cooperation can improve prognosis.
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