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CASE REPORT article

Front. Cardiovasc. Med.
Sec. Cardiovascular Genetics and Systems Medicine
Volume 11 - 2024 | doi: 10.3389/fcvm.2024.1391775

Patent ductus arteriosus with Tuberous sclerosis complex

Provisionally accepted
Tingrui Chen Tingrui Chen 1Xiaoxiao Wu Xiaoxiao Wu 2Wang Yiping Wang Yiping 1*
  • 1 University of Electronic Science and Technology of China, Chengdu, China
  • 2 Department of Neurology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan Province, China

The final, formatted version of the article will be published soon.

    “A 33-year-old patient presented with a chief complaint of patent ductus arteriosus (PDA) persisting for over 30 years. Physical examination revealed bilateral facial angiofibromas, multiple nail fibromas, intraoral fibromas, and a ‘shagreen patch’ on the left lumbar region.” Genetic testing was performed using a peripheral venous blood sample, which confirmed the diagnosis of Tuberous Sclerosis Type 2 (TSC2). Subsequently, the patient underwent cardiac color Doppler ultrasound and chest computed tomography angiography, which confirmed the presence of PDA. Tuberous sclerosis complex (TSC) is associated with cardiovascular diseases. The initial clinical manifestation of TSC is usually cardiac rhabdomyoma in children, and it is rarely reported in adults with PDA. In this case, the patient was diagnosed with PDA when he was young, and the genetic test showed heterozygous variation of TSC2 gene. The purpose of this article is to explore the correlation between TSC and PDA at the gene level through literature review. Key word:Patent ductus arteriosus, Tuberous sclerosis complex

    Keywords: patent ductus arteriosus, tuberous sclerosis comple, gene, ICU, TSC

    Received: 27 Feb 2024; Accepted: 10 Jul 2024.

    Copyright: © 2024 Chen, Wu and Yiping. 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: Wang Yiping, University of Electronic Science and Technology of China, Chengdu, China

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