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The pattern of cardiovascular malformation in the CHARGE association
Insights
Congenital heart disease is common in CHARGE association, affecting 64% of patients. Cardiovascular malformations, including conotruncal and aortic arch anomalies, are frequently observed.
Area of Science:
- Genetics
- Pediatrics
- Cardiology
Background:
- CHARGE association is a rare genetic disorder characterized by multiple congenital anomalies.
- Congenital heart disease (CHD) is a significant feature of CHARGE association, impacting patient prognosis.
- Previous studies have indicated a high prevalence of CHD in CHARGE syndrome.
Purpose of the Study:
- To determine the prevalence and specific types of congenital heart disease in patients with CHARGE association.
- To compare the cardiovascular malformation patterns in CHARGE association with other genetic syndromes.
Main Methods:
- Retrospective analysis of 67 previously described patients and 16 new patients diagnosed with CHARGE association.
- Detailed review of cardiac diagnoses and classification of malformations.
Main Results:
- Congenital heart disease was present in 64% of patients with CHARGE association (55% in prior cases, 100% in new cases).
- Among those with CHD, conotruncal anomalies (e.g., tetralogy of Fallot) occurred in 42%, and aortic arch anomalies (e.g., vascular ring) in 36%.
- The observed pattern of cardiovascular malformations closely resembles that seen in DiGeorge sequence.
Conclusions:
- Congenital heart disease is a near-universal finding in CHARGE association.
- Specific patterns of conotruncal and aortic arch anomalies are characteristic of CHARGE association.
- The cardiovascular findings suggest a potential shared developmental pathway with DiGeorge sequence.
Abstract:
Congenital heart disease occurred in 64% of patients with the CHARGE (coloboma, heart disease, choanal atresia, retardation of postnatal growth and mental development, genitalia hypoplasia, and ear anomalies) association (55% of 67 previously described patients and 100% of 16 new patients). Of those with congenital heart disease, 42% had conotruncal anomalies (tetralogy of Fallot, double-outlet right ventricle, truncus arteriosus), and 36% had aortic arch anomalies (vascular ring, aberrant subclavian artery, interrupted aortic arch). This striking pattern of cardiovascular malformations is similar to that found in the DiGeorge sequence.