• Feihong Li, Wenyang Wang, Yazhou Li, Xiwang Liu, Zhirui Zhu, Jian Tang, and Yaoqin Hu.
• Department of Anesthesiology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
• Medicine (Baltimore). 2024 Feb 9; 103 (6): e36034e36034.

RationaleOgden syndrome is an exceptionally rare X-linked disease caused by mutations in the NAA10 gene. Reported cases of this syndrome are approximately 20 children and are associated with facial dysmorphism, growth delay, developmental disorders, congenital heart disease, and arrhythmia.Patient ConcernsWe present the clinical profile of a 3-year-old girl with Ogden syndrome carrying a de novo NAA10 variant [NM_003491:c.247C>T, p.(Arg83Cys)]. During infancy, she exhibited features such as left ventricular hypertrophy, protruding eyeballs, and facial deformities.DiagnosisClinical diagnosis included Ogden syndrome, congenital heart disease (obstructive hypertrophic cardiomyopathy, left ventricular outflow tract obstruction, mitral valve disease, tricuspid valve regurgitation), tonsillar and adenoidal hypertrophy, and speech and language delay.InterventionsThe girl was considered to have hypertrophic cardiomyopathy (HCM) and received oral metoprolol as a treatment for HCM at our hospital. The drug treatment effect was not ideal, and her hypertrophy myocardial symptoms were aggravated and she had to be hospitalized for surgery.OutcomesThe girl underwent a modified Morrow procedure under cardiopulmonary bypass and experienced a favorable postoperative recovery. No pulmonary infections or significant complications were observed during this period. The patient's family expressed satisfaction with the treatment process.LessonsThe case emphasizes the HCM of Odgen syndrome, and early surgery should be performed if drug treatment is ineffective.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

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