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The neural crest as a possible pathogenetic factor in coarctation of the aorta and bicuspid aortic valve
A P Kappetein1, A C Gittenberger-de Groot, A H Zwinderman
1Department of Thoracic Surgery, University Hospital, Leiden, The Netherlands.
Insights
Coarctation of the aorta is frequently linked with bicuspid aortic valves and noncardiac anomalies, particularly in head and neck structures. These conditions may stem from neural crest development issues.
Area of Science:
- Cardiology
- Developmental Biology
- Genetics
Background:
- Coarctation of the aorta is a congenital heart defect requiring surgical intervention.
- Associated cardiac and noncardiac anomalies are common in patients with coarctation of the aorta.
- The neural crest is crucial for developing cardiac and noncardiac structures.
Purpose of the Study:
- To analyze associated cardiac and noncardiac anomalies in patients operated on for coarctation of the aorta.
- To investigate the prevalence of cardiac anomalies in relatives of these patients.
- To explore the potential role of neural crest maldevelopment in these conditions.
Main Methods:
- Retrospective analysis of 109 patients with coarctation of the aorta.
- Assessment of associated cardiac anomalies, including bicuspid aortic valve.
- Evaluation of noncardiac anomalies, with a focus on head/neck structures.
- Family history analysis for congenital cardiac malformations.
Main Results:
- 52% of patients had a bicuspid aortic valve.
- 39% had one or more noncardiac anomalies; 27% involved head/neck structures.
- Noncardiac anomalies were significantly more common in patients with coarctation and bicuspid aortic valve (44%) compared to those with a normal aortic valve (8%).
- 18% of patients had relatives with congenital cardiac malformations.
- Bicuspid aortic valve was more prevalent in patients with an affected relative (75%) than without (47%).
Conclusions:
- Coarctation of the aorta, bicuspid aortic valve, and noncardiac anomalies often co-occur.
- These findings support the theory that neural crest cell maldevelopment underlies a spectrum of aortic arch and head/neck anomalies.
- Coarctation of the aorta may represent a cardiovascular manifestation of a broader neurocristopathy.
Abstract:
Patients (n = 109) operated on for coarctation of the aorta were analyzed for occurrence of associated cardiac and noncardiac anomalies. Attention was also paid to the prevalence of cardiac anomalies in the relatives of these patients. Of the patients with coarctation of the aorta, 57 (52%) had a bicuspid aortic valve. Forty-three (39%) of the 109 patients had one or more noncardiac anomalies. In 29 (27%) patients the noncardiac anomaly involved the head/neck structures. Noncardiac anomalies were much more prevalent in patients with coarctation and bicuspid aortic valve, especially anomalies involving the head/neck structures: 44% compared to 8% of patients with a normal aortic valve. Congenital cardiac malformations were present in relatives in the first or second degree of 18% of the patients. Bicuspid aortic valve was more prevalent in patients with an affected relative (75%) than in patients with unaffected relatives (47%). Recent studies showed that the neural crest plays an important role in the development of cardiac and a variety of noncardiac structures. The cardiac structures derived from the neural crest involve the outflow tract of the heart and the aortic arch system. Maldevelopment of neural crest cells could therefore be responsible for the combined occurrence of outflow tract (e.g., bicuspid aortic valve), aortic arch (e.g., coarctation), and noncardiac anomalies. This study supports the concept that some anomalies of the aortic arch system, including aortic coarctation, are cardiovascular manifestations of a spectrum of anomalies involving the head and neck region that may be due to a genetic-environmental disorder of the neural crest.