Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation

• Published in: Revista brasileira de cirurgia cardiovascular Vol. 36; no. 5; pp. 700 - 702
• Main Authors: Li, Jinrong, Zhu, Tao, Yang, Sufei, Yang, Fan, Wu, Jinhui, Xiong, Fei
• Format: Journal Article
• Language: English
• Published: Sao Paulo Sociedade Brasileira de Cirurgia Cardiovascular 01.01.2021
• Subjects: Accuracy; Aging; Agreements; Autism; CARDIAC & CARDIOVASCULAR SYSTEMS; Cardiovascular disease; Congenital diseases; Diagnostic Errors; Educational Forum; Genotype & phenotype; Growth Disorders; Growth factors; Growth mental deficiency syndrome of Myhre; Heart; Heart surgery; Hypertension; Marfan Syndrome; Mutation; Patients; Pulmonary; Pulmonary arteries; Pulmonary hypertension; Signal transduction; SURGERY; China; Marfan Syndrome; Hypertension; Growth mental deficiency syndrome of Myhre; Growth Disorders; Diagnostic Errors; Pulmonary
• ISSN: 1678-9741; 0102-7638; 1678-9741
• DOI: 10.21470/1678-9741-2020-0592

What is Myhre syndrome and what is the role of SMAD4 mutation in this syndrome? B. What is the role of congenital heart disease in the differential diagnosis of Myhre syndrome? C. What is the role of gene sequencing in the diagnosis of this disease? In this case, the gene data were analyzed for the first time only focusing on cardiovascular disease-related genes, thus making a clinical diagnosis of suspected Marfan syndrome. Combined with the special facial features and bone and joint performance, we reinterpreted the results of gene exon sequencing, and finally detected the heterozygous variation of SMAD4 gene c.1498a > G (P.1500v) and corrected the clinical diagnosis (Question C). [ Table Omitted - see PDF ] Authors' roles & responsibilities JL Substantial contributions to the conception or design of the work; or the acquisition, analysis, or interpretation of data for the work; drafting the work or revising it critically for important intellectual content; agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved; final approval of the version to be published TZ Substantial contributions to the conception or design of the work; or the acquisition, analysis, or interpretation of data for the work; drafting the work or revising it critically for important intellectual content; agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved; final approval of the version to be published SY Substantial contributions to the conception or design of the work; or the acquisition, analysis, or interpretation of data for the work; drafting the work or revising it critically for important intellectual content; agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved; final approval of the version to be published FY Substantial contributions to the conception or design of the work; or the acquisition, analysis, or interpretation of data for the work; drafting the work or revising it critically for important intellectual content; agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved; final approval of the version to be published JW Substantial contributions to the conception or design of the work; or the acquisition, analysis, or interpretation of data for the work; drafting the work or revising it critically for important intellectual content; agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved; final approval of the version to be published FX Substantial contributions to the conception or design of the work; or the acquisition, analysis, or interpretation of data for the work; drafting the work or revising it critically for important intellectual content; agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved; final approval of the version to be published * This study was carried out at the West China Second University Hospital, Sichuan University, Chengdu, People’s Republic of China. * No financial support. 1 Caputo V, Bocchinfuso G, Castori M, Traversa A, Pizzuti A, Stella L, et al.