Thoracic aortic aneurysms increase the risk of aortic dissection or rupture, and hereditary thoracic aortic aneurysms and dissections (TAADs) can be life-threatening in young adulthood, even if patients receive optimal medical care. There is currently no genotype-specific medical treatment due to the lack of comprehensive understanding of governing molecular mechanisms. Hereditary TAADs can be divided into two categories: syndromic (associated with abnormalities of other organ systems) and non-syndromic (with manifestations restricted to the aorta). Recent advances in DNA sequencing technology have identified several causative genes for hereditary TAADs, including Marfan syndrome, Loeys–Dietz syndrome, vascular Ehlers–Danlos syndrome, and familial non-syndromic TAADs. Syndromic TAADs are typically caused by pathogenic variants in the transforming growth factor-β signal and extracellular matrix-related genes, such as FBN1, TGFBR1, TGFBR2, SMAD3, TGFB2, COL3A1, while approximately 20% of the non-syndromic hereditary TAADs result from altered components of the contractile apparatus of vascular smooth muscle cells, encoded by ACTA2, MYH11, MYLK, and PRKG1 genes. The genotype–phenotype relationship of hereditary TAADs has been extensively investigated to improve the methods for risk stratification and personalized treatment strategies. In this review, we present the current understanding of genotype–phenotype relationship and molecular mechanisms responsible for aortopathies of hereditary TAADs.
Objective: We investigated the association between Controlling Nutritional Status (CONUT) scores and the outcomes of bypass surgery in patients with chronic limb-threatening ischemia (CLTI). Methods: We retrospectively calculated preoperative CONUT scores in 118 patients (127 limbs) with CLTI who underwent infrainguinal bypass surgery. Survival, graft patency, and limb salvage were compared between the high and low CONUT score groups based on the respective cutoff points. Results: The median and mean CONUT scores were 5 and 4.8, respectively. The postoperative survival rate was lower in the high CONUT score (3–12) group than in the low CONUT score (0–2) group (P=0.0043). The limb salvage rate after arterial reconstruction was also significantly lower in the high CONUT score (8–12) group than in the low CONUT score (0–7) group (P=0.0009). Conclusions: The CONUT score can predict infrainguinal bypass surgery outcomes in patients with CLTI.