Key result
Genetic diagnosis and genotype-phenotype correlations are increasingly informing personalized surgical management for heritable thoracic aortic disease, pending more robust data from larger cohorts.
Why the study?
How does genetic diagnosis inform the decision of when to operate on patients with heritable thoracic aortic disease?
How does genetic diagnosis inform the decision of when to operate on patients with heritable thoracic aortic disease?
Genetic factors are increasingly important in personalizing the surgical management of heritable thoracic aortic disease, though more robust data are needed.
Cautious use of genetic data may refine surgical decisions in heritable thoracic aortic disease; leaves open validation in larger cohorts before practice change.
Genetic discovery for heritable thoracic aortic disease (HTAD) has been progressing at a brisk pace. Surgical management of thoracic aortic aneurysms and dissections has become more personalized, with genetic factors increasingly informing the decision of when to operate on patients. An improved understanding of genotype-phenotype correlations in patients with HTAD will ultimately lead to gene- and mutation-specific recommendations for surgical repair. Until more robust data from larger cohorts can inform our decisions, patients with HTAD should be seen by an aortic specialist for a tailored approach to elective surgical repair.
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Ouzounian et al. (2018) conducted a review in Heritable thoracic aortic disease (HTAD). Genetic diagnosis was evaluated. Genetic diagnosis and genotype-phenotype correlations are increasingly informing personalized surgical management for heritable thoracic aortic disease, pending more robust data from larger cohorts.
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