Nager syndrome and Pierre Robin sequence.

Nager syndrome is considered a rare genetic syndrome characterized by craniofacial and radial anomalies. Pierre Robin sequence is a triad that includes micrognathia, cleft palate and glossoptosis. The present patient had typical findings of Nager syndrome and Pierre Robin sequence. He progressed to severe respiratory distress, requiring mechanical ventilation and tracheostomy. At 1 year and 11 months, he had episodes of cardiorespiratory arrest and died. In the literature review, we identified the clinical description of 44 patients with Nager syndrome. Among them, 93.1% had micrognathia, 38.6% cleft palate and 11.3% glossoptosis. Only one (2.3%) had all three features, as observed in the present patient. Therefore, despite the fact that the features of Pierre Robin sequence are common, there are few patients who have the complete triad. It is noteworthy, however, that they may be associated with respiratory distress, which may put the patient's life at risk.

Analysis of Conduction Intervals in Normal Electrophysiological Studies: Establishment of Reference Values the Brazilian Population

Abstract Background In the investigation of cardiac rhythm disorders, a normal electrophysiological (EPS) study is associated with a favorable prognosis. One of the normality criteria is established by conduction intervals within expected range. Objective To establish reference values in EPS for the intracavitary conduction intervals (PA, AH and HV) in a Brazilian population. Methods A retrospective cohort study of the first 1,500 patients submitted to EPS ablation was performed at Instituto de Cardiologia do Rio Grande do Sul, Brazil. The EPS was considered normal if the test was performed for diagnostic purpose; absence of induced arrhythmias; and conduction intervals within the expected range. The REDCap software was used for data collection and management, and the SPSS Statistics 22.0 used for data analysis. Continuous variables were compared with Student's t-test for independent samples and categorical variables with the chi-square test (X 2 ). Values of p ≤ 0.05 were considered significant. Results A total of 124 (8.3%) with EPS considered normal were included; mean age was 52 ± 21 years, and 63 were male. The mean values in milliseconds of PA, AH and HV were 23 ± 9, 88 ± 25 and 44 ± 7, respectively. The PA, AH, and HV percentile ranges were 13 - 25, 81-107 and 40 - 52, respectively. When the patients were divided into three age groups (1 to 18 years, 19 to 64 years and 65 or more), we observed that the group of older patients had significantly higher values of PA, AH and HV compared with younger patients. Conclusion This study showed that intracavitary conduction intervals in a sample of the Brazilian population were similar to previously published studies. Elderly patients tend to have higher values of intracavitary conduction intervals in EPS. Future studies including broader age ranges could enable the acquisition of more reliable and reproducible reference values. (Int J Cardiovasc Sci. 2020; [online].ahead print, PP.0-0)