Tetralogy of Fallot (TOF) is a form of complex congenital heart disease (CHD) with clinical and genetic heterogeneity. Of the few known causes, 22q11.2 deletion syndrome is most common. We sought to define other clinical subgroups by focusing on congenital cardiac and extra-cardiac features, and cardiac outcome. Patients were prospectively categorized as “syndromic” if they had at least two of three features: dysmorphic facies, learning difficulties or voice abnormalities. We compared cardiac and extra-cardiac characteristics, and late cardiac outcomes between the syndromic group and a nonsyndromic control group. The syndromic group had a more complex cardiac disease, was at elevated risk for developing later onset conditions including neuropsychiatric disorders, endocrine disorders, and hearing deficits, and had a higher mortality rate compared to the nonsyndromic group. Increased awareness of this subgroup with a multisystem condition may be helpful for optimizing management and identifying individuals for referral to medical genetics.
| Identifer | oai:union.ndltd.org:LACETR/oai:collectionscanada.gc.ca:OTU.1807/25894 |
| Date | 13 January 2011 |
| Creators | Piran, Sara |
| Contributors | Silversides, Candice |
| Source Sets | Library and Archives Canada ETDs Repository / Centre d'archives des thèses électroniques de Bibliothèque et Archives Canada |
| Language | en_ca |
| Detected Language | English |
| Type | Thesis |
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