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. 2018 Nov;6(6):1114-1123.
doi: 10.1002/mgg3.489. Epub 2018 Nov 4.

Survival, causes of death, and cardiovascular events in patients with Marfan syndrome

Thy Thy Vanem  1   2 , Odd Ragnar Geiran  1   2 , Kirsten Krohg-Sørensen  1   2 , Cecilie Røe  1   3 , Benedicte Paus  1   4 , Svend Rand-Hendriksen  5
Affiliations

Survival, causes of death, and cardiovascular events in patients with Marfan syndrome

Thy Thy Vanem et al. Mol Genet Genomic Med. 2018 Nov.

Abstract

Background: To explore survival, causes of death, and the prevalence of cardiovascular events in a Norwegian Marfan syndrome (MFS) cohort. MFS is a heritable connective tissue disorder associated with reduced life expectancy-primarily due to aortic pathology.

Methods: A follow-up study of 84 MFS adults, initially investigated in 2003-2004. In 2014-2015, 16 were deceased, 47 of 68 survivors consented to new clinical investigations. Analyses of events were performed for 47 survivors and 16 deceased at follow-up. Standardized mortality ratios (SMR), using the mortality rate of the Norwegian population as reference, were calculated for all 84 and calculated for men and women separately. Causes of death and information on cardiovascular events were retrieved from death certificates and medical records.

Results: Standardized mortality ratios (95% confidence interval): for the whole cohort: 5.24 (3.00-8.51); for men: 8.20 (3.54-16.16); for women: 3.85 (1.66-7.58). Cardiovascular causes were found in 11 of 16 deceased, eight of these related to aortic pathology. Cancer was the cause of death in three patients. At follow-up, 51% had new cardiovascular events; 59% had undergone aortic surgery. Men experienced aortic events at younger age than women. 32% of the survivors were not followed-up as recommended.

Conclusion: Life expectancy is reduced in this MFS cohort compared to the Norwegian population. Cardiovascular complications develop throughout life, particularly aortic pathology, the major cause of death in MFS. Death and aortic pathology seem to occur earlier in men. There is a need to improve follow-up according to guidelines.

Keywords: Marfan syndrome; aortic surgery; cardiovascular events; causes of death; survival.

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Figures

Figure 1
Figure 1
A flow chart of the study population. †Due to new knowledge about disease‐causing genes, the MFS cohort from 2003–2004 has been reclassified from 87 MFS patients to 84 patients at follow‐up
Figure 2
Figure 2
Age distribution of 84 MFS patients at 10–12‐year follow‐up: the x‐axis showing age groups of 10‐year intervals and the y‐axis showing the number of patients
Figure 3
Figure 3
Cumulative probability of survival in 84 MFS patients compared to the general Norwegian population. Median estimate male: 63 years (95% CI: 51.3–74.7). Median estimate female: 73 years (95% CI: 70.8–75.2)
Figure 4
Figure 4
Aortic event‐free survival, 63 MFS patients
Figure 5
Figure 5
(a) Age at first occurrence of Stanford type A dissection, N = 63. (b) Age at first occurrence of Stanford type B dissection, N = 63. (c) Age at first time aortic surgery, N = 63
See this image and copyright information in PMC

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