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[The Ellis-Van Creveld syndrome. Apropos 2 clinical cases]
J M Santos1, J Pipa, L Antunes
1Internato Complementar de Cardiologia, Hospital Distrital de Viseu.
Insights
Ellis-Van Creveld Syndrome, a genetic disorder affecting skeletal, nail, and teeth development, often presents with cardiac issues. This review suggests longer lifespans in affected individuals may stem from less severe cardiac complications.
Area of Science:
- Genetics
- Pediatrics
- Cardiology
Background:
- Ellis-Van Creveld Syndrome is a rare, autosomal recessive congenital disorder.
- It primarily affects skeletal development, nails, and teeth.
- Cardiac abnormalities occur in 50-60% of affected individuals.
Observation:
- Common cardiac defects include single atrium and large atrial septal defects.
- Associated anomalies like aortic atresia can occur.
- Two adult cases (54-year-old male, 45-year-old female) with congestive heart failure and single atrium are presented.
Findings:
- The presented cases demonstrate unusual longevity for Ellis-Van Creveld Syndrome patients.
- Congestive heart failure and single atrium were observed in these long-lived individuals.
- The cardiac disease in these patients appears relatively benign.
Implications:
- The findings suggest a potential link between less severe cardiac disease and increased longevity in Ellis-Van Creveld Syndrome.
- This review highlights the importance of cardiac evaluation and management in patients with this syndrome.
- Further research is warranted to understand the specific cardiac factors contributing to prolonged survival.
Abstract:
The chondroectodermal dysplasia--Ellis-Van Creveld Syndrome--is an unusual form of congenital disease, genetically transmitted with a recessive autosomal pattern, which involves the skeletal system, nails and teeth. In about 50 to 60 percent of cases, the affected individuals show cardiac abnormalities, and the most common are single atrium, large atrial septal defect, ostium primum type. Other abnormalities may accompany these lesions, such as aortic atresia, hypoplasia of the ascending aorta or of the left ventricle. About half of the patients die in the childhood due to cardiorespiratory complications. Two cases are described with this syndrome, a male and a female, with 54 and 45 years old respectively; they were followed in our Departments and showed congestive heart failure and single atrium. These cases led us to review the subject; we believe that the unusual longevity of these patients can be related to their relatively benign cardiac disease.