Telomere length in patients with Marfan Syndrome.

Patients with Marfan syndrome had significantly shorter telomere length compared to age- and sex-matched healthy controls.

• Relative average leukocyte telomere length was 0.99 ± 0.19 in MFS patients vs. 1.07 ± 0.21 in healthy controls (p = 0.033)
• Study included 59 adults with molecularly confirmed MFS (median age 38 years, 29 females) and 59 age- and sex-matched healthy controls
• Telomere length was determined by a singleplex qPCR assay
• Participants were matched by age and sex to control for these known confounders of telomere length

Major adverse cardiovascular events were associated with shorter telomere length in univariate analysis.

• Major adverse cardiovascular events were defined as aortic dissection, arrhythmia, or heart failure
• In univariate analysis, major adverse cardiovascular events were associated with shorter telomere length (β = -0.168, 95% CI -0.291; -0.013, p = 0.008)
• This association was identified within the MFS patient cohort

No other clinical or genetic variables showed significant associations with telomere length in either raw or adjusted analyses.

• Analyses included both raw and age- and sex-adjusted telomere length analyses
• No significant associations were found for other clinical or genetic variables beyond major adverse cardiovascular events
• This suggests the cardiovascular event association is relatively specific among the variables examined

Chronic inflammation and oxidative stress are recognized as pathophysiological features of Marfan syndrome and are known drivers of telomere shortening.

• Marfan syndrome is characterized by progressive aortic dilatation and life-threatening cardiovascular complications
• Chronic inflammation and oxidative stress are described as 'increasingly recognized in its pathophysiology'
• Telomere shortening is described as 'a hallmark of biological aging'
• The authors hypothesized these mechanisms would result in shorter telomere length in MFS adults compared to healthy controls