Related Experiment Videos
Pattern of cardiac malformation in oculoauriculovertebral spectrum
A Kumar1, J M Friedman, G P Taylor
1Division of Cardiology, British Columbia Children's Hospital, Vancouver, Canada.
Insights
Congenital heart defects (CHD) occur in 19% of patients with oculoauriculovertebral spectrum (OAVS). Cardiac anomalies in OAVS are more complex and varied than previously understood.
Area of Science:
- Genetics
- Cardiology
- Developmental Biology
Background:
- Oculoauriculovertebral spectrum (OAVS) is associated with congenital heart defects (CHD), but prevalence estimates vary widely (5-58%).
- Previous reports suggest Tetralogy of Fallot (TOF) and Ventricular Septal Defect (VSD) are the most common cardiac anomalies in OAVS.
- Variability in prevalence is attributed to differing diagnostic criteria and ascertainment bias from specialty databases.
Purpose of the Study:
- To determine the frequency and spectrum of CHD in a cohort of patients with OAVS.
- To characterize associated pulmonary and renal abnormalities in OAVS patients with CHD.
Main Methods:
- Retrospective analysis of 32 patients with OAVS identified through genetic or autopsy databases.
- Detailed cardiac phenotyping and review of associated anomalies.
Main Results:
- A CHD frequency of 19% was observed in the studied OAVS cohort.
- Cardiac lesions were diverse and complex, including asplenia syndrome, ventricular inversion with double outlet right ventricle, pulmonary atresia with VSD, and infradiaphragmatic total anomalous pulmonary venous connection.
- Pulmonary and renal abnormalities were more prevalent in OAVS patients with CHD compared to those without.
Conclusions:
- CHD is a significant finding in OAVS, with a frequency of 19% in this cohort.
- The spectrum of cardiac anomalies in OAVS is broader and more complex than previously recognized.
- Associated pulmonary and renal issues warrant consideration in the comprehensive management of OAVS patients with CHD.
Abstract:
The reported prevalence of congenital heart defects (CHD) in the oculoauriculovertebral "spectrum" (OAVS) is 5-58%. This variability is mainly due to differences in the diagnostic criteria used, and to ascertainment bias introduced by selection of patients from different specialty databases. Two-thirds of the cardiac anomalies reported are either tetralogy of Fallot (TOF) or ventricular septal defect (VSD). We found a CHD frequency of 19% in a series of 32 patients identified either through a genetic or autopsy database. The cardiac lesions were much more varied and complex than previously reported and included asplenia syndrome, ventricular inversion associated with double outlet right ventricle, pulmonary atresia with VSD, double outlet right ventricle, and infradiaphragmatic total anomalous pulmonary venous connection. Pulmonary and renal abnormalities were more common in OAVS patients with CHD than in those where the heart was normal.