Running title: Echocardiographic manifestations of eoMFS
Lihong Pu1,2, Yu Wang1,2, Hanmin Liu2,3, Xiaohui Dai1,2, Dan Liu1,2, Ting Wu1,2, Qi Zhu1,2, Jiao Chen1,2
1Department of Ultrasonic Medicine, West China Second Hospital of Sichuan University, Chengdu, Sichuan 610041, China
2Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan 610041, China
3Department of Pediatrics, West China Second Hospital of Sichuan University, Chengdu, Sichuan 610041, China
Correspondence: Jiao Chen, E-mail:chenjiao@scu.edu.cn
Conflict of interest The authors declare that they have no competing interests.
Acknowledgments This study was supported by the National Key R&D Program of China (2017YFC0211705, 2017YFC0113905), the Key R&D Program of Science and Technology Department of Sichuan Province (2019YFS0403, 2019YFS0037), and the Popularization and Application Project of the Sichuan Health and Family Planning Commission (17PJ41). The authors are very grateful to the patient’s parents, who contributed the images in this article.
Abstract: Early-onset Marfan syndrome (eoMFS) is a rare subset of Marfan syndrome with varying phenotypic expression that occurs in the neonatal and infantile periods. eoMFS has a poor prognosis associated with high rates of mortality. Most newborn eoMFS patients present early onset heart failure that is resistant to treatment. This study presents a case of eoMFS.
Keywords: Marfan syndrome, Early-onset, Echocardiography, Gene