Congenital heart defects in the Valencian Region 2007–2014: The population-based registry of congenital anomalies

Introduction: Congenital heart defects (CHDs) are the most prevalent and severe type of major congenital anomalies (CAs). The objective of this study was to determine the frequency and distribution of CHDs in the Valencian Region from 2007 to 2014, describing common characteristics of the patients and their mothers. Material and methods: We retrieved data on CHDs in live births, stillbirths and cases of termination of pregnancy for foetal anomaly between 2007 and 2014 (codes Q20–Q26 in the 10th Revision of the International Classification of Diseases-British Paediatric Association, ICD10-BPA) from the population-based registry of congenital anomalies of the Valencian Region. We calculated the prevalence per every 10 000 births of CHDs overall and by subtype, analysed temporal trends and the geographic distribution of cases, and documented the presence of associated noncardiac malformations. Results: We identified 3671 cases of CHD, corresponding to 38.6% of all CAs. The prevalence was 91.1/10 000 (IC 95%: 88.1–94.0) with a predominance of septal defects, chiefly atrial septal defect (48.5/10 000; IC 95%: 46.4–50.6) and ventricular septal defect (36.1/10 000; IC 95%: 34.3–38.0). We found the highest prevalence in the province of Castellon (137.8/10 000; IC 95%: 127.5–148.1). The sex distribution was 47.3% male and 44.3% female. Of all cases, 90.9% corresponded to live births and 65.6% were diagnosed at birth. The most frequent associated extracardiac malformations were musculoskeletal, and 19.2% of patients had syndromes. The most frequent maternal diseases were diabetes mellitus, hypothyroidism and urinary tract infections. Conclusions: The prevalence of CHD and atrial septal defects was higher compared to European data, while the prevalence of ventricular septal defects was similar. Musculoskeletal malformations were the noncardiac CAs most frequently associated with CHDs. Resumen: Introducción: Las anomalías congénitas cardíacas (ACC) son el tipo de anomalías congénitas (AC) mayores de más prevalencia y gravedad. El objetivo fue determinar la frecuencia y distribución de las ACC en la Comunitat Valenciana desde 2007 hasta 2014, describiendo las características comunes de los pacientes y sus madres. Material y métodos: Se seleccionaron del Registro poblacional de AC de la Comunitat Valenciana los pacientes con ACC nacidos vivos, nacidos muertos e interrupciones voluntarias del embarazo entre 2007-2014 (códigos Q20-Q26 de la Clasificación Internacional de