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Please use this identifier to cite or link to this item: http://hdl.handle.net/1807/31423

Title: Familial Inheritance in Congenital Heart Disease: A Focus on Tetralogy of Fallot
Authors: Swaby, Jodi-Ann
Advisor: Silversides, Candice
Bassett, Anne
Department: Medical Science
Keywords: tetralogy of fallot
22q11 deletion syndrome
congenital heart disease
cyanotic heart disease
Issue Date: 20-Dec-2011
Abstract: Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease (CHD). The understanding of the genetics and inheritance of TOF is limited. Although about 15% of cases are associated with a 22q11.2 deletion, the majority have no known aetiology. Even in 22q11.2 Deletion Syndrome (22q11DS), factors that increase the likelihood of CHD expression are poorly understood. We aimed to determine the prevalence and phenotypes of CHD in relatives of adults with TOF. We also investigated the prevalence of CHD in relatives without a 22q11.2 deletion of individuals with 22q11DS. Offspring of patients with TOF had the greatest prevalence of CHD. Diverse cardiac phenotypes, including left heart obstructive lesions, were found in families. We also found that unaffected relatives of individuals with 22q11DS had a greater prevalence of complex CHD over population expectations, suggesting that modifier genetic factors may be involved in expression of CHD in 22q11DS.
URI: http://hdl.handle.net/1807/31423
Appears in Collections:Master

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