Pregnancy with treacher collins syndrome in mechanical heart valve: a case report and discussion treacher collins syndrome and MHV.

Treacher Collins syndrome is a congenital genetic disorder, also known as mandibulofacial dysostosis with deafness syndrome. In addition to distinct facial abnormalities, patients typically present with deafness and other associated manifestations, such as cleft palate, dental malocclusion, airway stenosis, and developmental delay. This report describes a pregnant woman with Treacher Collins syndrome complicated by rheumatic heart disease who had undergone mechanical valve replacement in 2012 and successfully delivered via cesarean section at 35 weeks and 5 days of gestation. Whole-exome gene testing of the pregnant woman revealed a pathogenic mutation in the TCOF1 gene on the long arm of chromosome 5, leading to the clinical diagnosis of “Treacher Collins syndrome”. Due to her valvular rheumatic heart disease, she had undergone “mechanical mitral and aortic valve replacement” and was maintained on long-term oral warfarin anticoagulation postoperatively. She also had a history of multiple adverse pregnancy and birth outcomes. Through multidisciplinary collaboration, a healthy male infant was delivered by cesarean section, and the patient achieved a favorable recovery.