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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.
American Journal of Medical Genetics
|June 1, 1993
Summary
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.