Telomere length in patients with Marfan Syndrome.

BACKGROUND

Marfan syndrome (MFS) is a multisystemic heritable thoracic aortic disease entity characterized by progressive aortic dilatation and life-threatening cardiovascular complications. Chronic inflammation and oxidative stress are increasingly recognized in its pathophysiology, and are important drivers of telomere shortening, a hallmark of biological aging. We hypothesized that adults with MFS have shorter telomere length (TL) compared to healthy controls.

METHODS

Relative average leukocyte TL was measured in 59 adults with molecularly confirmed MFS (median age 38 years, 29 females) and 59 age- and sex-matched healthy controls. TL was determined by a singleplex qPCR assay.

RESULTS

Patients with MFS had shorter TL compared to healthy controls (0.99 ± 0.19 vs. 1.07 ± 0.21, p = 0.033). In univariate analysis, we found that major adverse cardiovascular events (defined as aortic dissection, arrhythmia or heart failure) were associated with shorter TL (β = -0.168, 95%CI -0.291; -0.013, p = 0.008). No other clinical or genetic variables showed significant associations in either the raw or age- and sex-adjusted TL analyses.

CONCLUSION

Adults with MFS have shorter leukocyte TL, and an association was found between shorter TL and severe cardiovascular events. These findings suggest a role for accelerated aging mechanisms in the pathophysiology of the disease.