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Effect of Clinical Phenotype on Yield of Long QT Syndrome Genetic Testing

Divisions of Cardiovascular Diseases and Pediatric Cardiology and Departments of Internal Medicine, Pediatrics, and Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic College of Medicine, Rochester, Minnesota

View larger version (50K): [in a new window]   Figure 1 Summary of long QT syndrome genotypes among 541 consecutive unrelated patients.

View larger version (21K): [in a new window]   Figure 2 Age and gender distribution.

View larger version (32K): [in a new window]   Figure 3 Effect of age and gender on yield of long QT syndrome genetic test.

View larger version (24K): [in a new window]   Figure 4 Effect of corrected QT interval (QTc) (A) and diagnostic score (B) on yield of genetic test. (A) The yield ranged from 0% when the subject's QTc was <400 ms to 62% when the QTc was >480 ms (p < 0.0001). (B) The greatest yield (72%) was achieved among the subset with a cumulative diagnostic score of 4, indicating strong clinical probability for long QT syndrome.