Orofacial clefts associated with cardiac anomalies
27 years of experience of a multidisciplinary group in a tertiary hospital in Portugal
AIMS: Orofacial clefts (OFC) are a heterogeneous group of birth defects arising in about 1.7/1000 newborns. They can occur with other congenital anomalies, including heart defects. We aim to describe a population with orofacial clefts and associated cardiac anomalies.
METHODS: Retrospective study of patients attended in the Cleft Lip and Palate Multidisciplinary Group outpatient clinic at Hospital Universitario São João, Porto-Portugal. Medical records from January 1992 through December 2018 were reviewed. Patients were divided into four groups according to the Spina classification: cleft lip (CL), cleft lip and palate (CLP), isolated cleft palate (CP) and atypical cleft (AC). Further categorization included gender, affected relatives, associated congenital anomalies and syndromes.
RESULTS: From the 588 patients included, 77 (13%) presented cardiac anomalies. Of those with orofacial cleft and cardiac anomalies, 53% were males and 17% had known affected relatives. CP was the most common cleft among patients with cardiac anomaly (~56%). Additional congenital anomalies were found in 89.7% of patients, namely facial defects, central nervous system, renal and skeletal malformations. A recognizable syndrome was identified in 61.5%, being Pierre-Robin the most common (n=22), followed by 22q11.2 microdeletion (n=9). Both additional congenital anomalies and recognizable syndromes were significantly more prevalent in patients with heart disease (p<0.05). The main groups of cardiac anomalies were left-to-right shunt (n=47) and right ventricular outflow tract obstruction (n=14). From these, 26 had a ventricular septal defect, 15 atrial septal defect and seven patients had tetralogy of Fallot. Five patients had dysrhythmias.
CONCLUSIONS: Due to the high prevalence of cardiac anomalies in the cleft population, a routine cardiac evaluation should be performed in all these patients.
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