Summary
Genetic testing is recommended for individuals with suspected heritable thoracic aortic disease (HTAD), as results can guide management, determine whether additional surveillance for extra cardiac features is indicated, and identify at- risk relatives. To further demonstrate the value of genetic testing for these patients, we reviewed results from more than 2,300 individuals with suspected HTAD who received the Blueprint Genetics’ next-generation sequencing “Aorta” panel. Key findings included the following
- An informative result was identified in 12% of individuals in the cohort; FBN1 was the most implicated gene
- Copy number variants (CNVs) accounted for 6% of all informative results
- The yield was highest in individuals who were deceased at the time of testing
- Most positive results involved genes associated with extra cardiac features
These findings highlight the importance of comprehensive genetic testing, which includes high-resolution CNV analysis for patients with suspected HTAD to guide additional surveillance, identify at- risk relatives, and inform their own management.
Authors:
Julie Hathaway, Johanna Huusko, Saija Ahonen, Johanna Tommiska, Andrea Lewis, Kimberly Gall, Victoria Howell, Khalida Liaquat, Allison Sluyters, Alicia Scocchia, Janica Djupsjöbacka, Mikko Muona, Inka Saarinen, Eija Seppälä, Tiia Kangas-Kontio, Lotta Koskinen, Pertteli Salmenperä, Samuel Myllykangas, Juha Koskenvuo
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