Key result
Targeted next-generation sequencing achieves ~56% diagnostic yield in syndromic aortopathies but few isolated cases.
Why the study?
Thoracic aortic diseases result from complex genetic and hemodynamic interactions, are often clinically silent, and can lead to lethal complications like aortic dissection or rupture.
Does targeted next-generation sequencing identify pathogenic genetic variants in patients with thoracic aortic diseases?
Cohort (n=79)
No
Does targeted next-generation sequencing identify pathogenic genetic variants in patients with thoracic aortic diseases?
Targeted next-generation sequencing in a Brazilian cohort with thoracic aortic diseases identified pathogenic variants in 7.1% of isolated and 55.5% of syndromic cases, highlighting the utility of genetic screening for early diagnosis.
Supports targeted NGS screening in syndromic aortopathies; leaves open routine use in isolated cases pending prospective validation.
Thoracic aortic diseases (or aortopathies) result from complex interactions between genetic and hemodynamic factors. Often clinically silent, these diseases can lead to lethal complications like aortic dissection or rupture. This study focused on a Brazilian cohort of 79 individuals with thoracic aortic diseases, exploring genetic factors through targeted next-generation sequencing (tNGS) of 15 priority genes. The majority of individuals had non-syndromic aortopathy, with eight diagnosed with Marfan syndrome (MFS). Pathogenic or likely pathogenic variants (PV/LPV) were found in five genes, including FBN1, ACTA2, TGFBR2, MYLK, and SMAD3. Notably, novel variants in FBN1 were identified, contributing to Marfan-like phenotypes. The diagnostic yield for isolated aortopathies was 7.1%, rising to 55.5% for syndromic cases. Variants of uncertain significance (VUS) were identified, emphasizing the need for further research and familial investigations to refine variant classifications. This study provides valuable insights into the genetic landscape of aortopathies in Brazil, aiding early diagnosis and personalized management.
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Ferreira et al. (2023) conducted a cohort in Thoracic aortic diseases (aortopathies) (n=79). Targeted next-generation sequencing (tNGS) was evaluated on Diagnostic yield of pathogenic or likely pathogenic variants. Targeted next-generation sequencing in a Brazilian cohort of 79 individuals with aortopathies achieved a diagnostic yield of 7.1% for isolated cases and 55.5% for syndromic cases.
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