Background: Cardiovascular malformation is an uncommon extra-craniofacial presentation in a patient with Treacher
Collins syndrome [TCS], however, a systematic review of this manifestation is lacking.
Objective: To systematically review of prevalence and type of cardiovascular malformations in patients with TCS.
Materials and Methods: A systematic literature search was conducted through PubMed, Google Scholar, Cochrane central
data bases, and OMIM using the medical subject heading “Treacher Collins syndrome” for articles published between 1996
and March 2018.
Results: Of the 15 studies included, there were 159 patients who had a clinical diagnosis of TCS and 144 (91%) of these
patients had documented gene mutations [i.e., TCOF1 (114 patients), POLR1C (3 patients), or POLR1D (27 patients)]. Of
the 144 patients who had been documented gene mutations, eight (6%) patients had cardiovascular malformations. All 8
patients with cardiovascular malformations had only the TCOF1 gene mutations. The type of cardiovascular malformations
were atrial septal defect [ASD] (5 cases), patent ductus arteriosus [PDA] (2 cases) and ASD + PDA (1 case).
Conclusion: The prevalence of cardiovascular malformation significantly increases in patients with TCS compared with the
general population. Cardiovascular malformation found in a patient with TCS is likely to present as a simple lesion.

Keywords: Treacher Collins syndrome, Treacher Collins-Franceschetti syndrome, Cardiovascular malformations, Congenital heart diseases, Prevalence, Type, TCOF1, POLR1C, POLR1D, Gene