Maternal health and pregnancy outcome in Marfan syndrome: A register-based study

Groth, Kristian A.; Nielsen, Birgitte Bruun; Sheyanth, Inger Norlyk; Gravholt, Claus Højbjerg; Andersen, Niels Holmark; Stochholm, Kirstine

doi:10.22541/au.158931049.97187427

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“…In 113 of these reports, the prognostic significance of the time of diagnosis was emphasized, however without direct evidence. Only 6 studies measured the time of diagnosis 6,11,[16][17][18][19] : One study used questionnaires to examine the time between the first symptoms and the final diagnosis in 430 patients 16 . Another retrospective study of 66 adults with MFS compared outcomes of 27 patients with a diagnosis before and 39 with a diagnosis after the onset of adulthood 17 .…”

Section: Scoping Reviewmentioning

confidence: 99%

“…In a study of administrative data from 389 patients with MFS, the delay in diagnosis was measured in days from the first symptoms to the final diagnosis 18 . Finally, three Danish studies with administrative data reported age at initial diagnosis 11 , time of diagnosis in relation to aortic events 6 , and pregnancy (Table S6) 19 . EURORDIS, not listed in Medline, measured diagnostic delays using questionnaire responses of 682 families with MFS 20 .…”

Section: Scoping Reviewmentioning

confidence: 99%

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Late diagnosis of Marfan syndrome is associated with unplanned aortic surgery and cardiovascular death

Claus,

Schoof,

Mir

et al. 2024

Preprint

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Background. Marfan syndrome (MFS) guidelines recommend optimal pharmacological therapy (OPT) and replacement of the ascending aorta (RAA) at 5.0cm diameters to prevent acute type A aortic dissection (ATAAD) and death. The effect of early MFS diagnosis and initiation of therapy on outcomes is not known. Objective. To evaluate the effect of age at MFS diagnosis and therapy initiation on delayed RAA and death. Methods. This retrospective observational cohort study with long-term follow-up included consecutive patients with MFS, pathogenic FBN1 variant, and regular visits to a European Reference Network Center. We considered MFS diagnosis at age ≥21 years late, and OPT initiation at age <21 years early. Outcomes were delayed RAA with aneurysm diameter >5.0cm or ATAAD, and death from all causes. We used landmark design starting at age 21 years to determine associations with outcomes. Results. The study group consisted of 288 patients (45.1% male), including 169 patients with late MFS diagnosis (58.7%) and 63 with early OPT (21.9%). During mean follow-up of 25±14.7 years, 78 patients had delayed RAA, with 42 operations for ATAAD and 36 for aneurysms 5.0cm. There were 33 deaths, including 11 deaths late after ATAAD. All deaths were cardiovascular. Late diagnosis, but not early OPT, showed univariate association with delayed RAA (P<0.001) and death (P=0.025). Multivariate Cox regression analysis confirmed late diagnosis as predictor of delayed RAA (hazard ratio (HR)=8.01; 95% confidence interval (95%CI) 2.52-25.45; P<0.001) and death (HR=4.68; 95%CI 1.17-18.80; P=0.029). Conclusions. Late diagnosis of Marfan syndrome is associated with delayed surgery and death.

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