CASE REPORT article
Front. Cardiovasc. Med.
Sec. Cardio-Oncology
Volume 12 - 2025 | doi: 10.3389/fcvm.2025.1603557
This article is part of the Research TopicCase Reports in Cardio-Oncology: 2025View all 4 articles
The Carney complex led to the tragic passing of a young girl in the prime of her life
Provisionally accepted
- 1The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, China
- 2Hohhot Mongolian Hospital of Traditional Chinese Medicine, Hohhot, Inner Mongolia Autonomous Region, China
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Objective: We identified a novel mutation in the protein kinase cAMP-dependent type I regulatory subunit α (PRKAR1A) gene in a Chinese patient presenting with multiple recurrent cardiac myxomas, confirming a diagnosis of Carney complex (CNC). By reviewing the relevant literature, we aimed to enhance our understanding of this condition. 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 PRKAR1A (c.329dupC: p. A110fs), and the patient was diagnosed with CNC. During follow-up, the child succumbed to heart failure. 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.
Keywords: Carney Complex, cardiac myxoma, Recurrence, PRKAR1A, endocrine
Received: 31 Mar 2025; Accepted: 11 Aug 2025.
Copyright: © 2025 Yun, Liu, Zhang, Wang, Duan, Liu, Wu and Shi. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Yilu Shi, The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, China
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