Key result
Knowledge of the genetic basis of heritable thoracic aortic disease has direct implications for patient management, suggesting that treatment and operative indications should be gene-specific.
Understanding the genetic basis of thoracic aortic disease is crucial as it dictates gene-specific patient management, operative indications, and extent of surgery.
Feature Editor Note—Great strides have been made in understanding the genetic basis of thoracic aortic disease. While many cases do not have a clear heritable pattern, for those that do, knowledge of the genetic basis may have direct implications for management of both the patient and their relatives. Numerous causative genes have been identified for both syndromic and nonsyndromic heritable thoracic aortic disease, and it is expected that many more have yet to be discovered. The patterns of aortic disease associated with each mutation are being investigated, and from this, we are learning that patient management should be gene-specific.
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Norton et al. (2021) conducted an editorial in thoracic aortic disease. Genetic testing was evaluated. Knowledge of the genetic basis of heritable thoracic aortic disease has direct implications for patient management, suggesting that treatment and operative indications should be gene-specific.
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