Abstract 1982: Differentiating Patterns of Cardiac and Extra-cardiac Anomalies in Adults With Tetralogy of Fallot
Background Tetralogy of Fallot (TOF) is a complex Congenital Heart Disease (CHD) with clinical and genetic heterogeneity. The purpose of this study was to compare the clinical presentation of 3 TOF subgroups:
those with extra-cardiac phenotype suggestive of a genetic syndrome (Syndromic),
those without the extra-cardiac phenotype (Nonsyndromic),
those with a known genetic syndrome (22q11 deletion syndrome; 22q11DS).
Methods Adults (≥18 years) with TOF seen in our clinic and who had undergone prospective clinical genetic screening were included. Patients were categorized as “Syndromic” if they met at least two of the three criteria previously validated to select for 22q11DS: dysmorphic facies, learning difficulties and hypernasal voice, but without 22q11DS or another known syndrome. Retrospective chart review provided lifetime information on cardiac and extra-cardiac features. Clinical characteristics of the 3 groups were compared using student’s t-test, Chi square and Kruskal-Wallis tests.
Results One hundred and seventy-five adults with TOF (93 male, 82 female) were included: 58 Syndromic (mean age 37±10 years), 90 Nonsyndromic (mean age 39±11 years) and 27 with 22q11DS (mean age 30±7 years). Comparing Syndromic vs. Nonsyndromic subgroups, 88% vs. 24% had dysmorphic facies, 65% vs. 1% hypernasal voice, and 88% vs. 10% learning difficulties, respectively. Results are shown in the Table⇓ below.
Conclusion The results demonstrate that clinical genetic screening can identify a Syndromic group of TOF patients with a distinct pattern of cardiac, extra-cardiac and later-onset conditions which require treatment. An awareness of these phenotypes is important for the clinician because of the multisystem nature of this disorder. Genome-wide microarrays may delineate the underlying molecular anomalies.