From Neonates to Adults in Marfan Syndrome: Diagnosis, Progress and Transition to Adult Care

Objectives: Today medical care for chronic diseases like Marfan syndrome (MFS) is a big challenge. Thereby long-term outcome and quality of life (QoL) are essential and highest aim for patients. Early diagnosis, due to improvement of genetics and clinical judgment, allows insights of development of disease and possible preventive strategies in childhood. In consequence, all patients require lifelong follow-up examinations and need an effective transition to adult medicine. We hereby present more than 10 years of follow up with a distinguish insight of all aspects of diagnosis and prophylaxis in MFS.

Methods: Since 2008 we investigated 424 patients in our specialized pediatric Marfan clinic. We diagnosed MFS in 149 patients (9.5 ± 5.8 y; m: 62%) according Ghent Criteria (GC) and attended 978.5 patient years. We analyzed criterions of GC in detail, requirement of prophylaxis and QoL in children and adults and evaluated condition and effectiveness of transition to adult care.

Results: Analysis of GC showed age dependent increase of prevalence (Tab1). Medical prophylaxis was initialized in 80 patients (< 18 y 52%; >18 y 62%; 10.2 ± 5.1 y). Significant z-score reduction could be achieved with sartan and/or beta-blockers (BB) equally. Seven patients required aortic root replacement (11.5 ± 5.6 y) in childhood. There was no dissection or mortality. Compared with adult patients QoL did not show significant impairment in children. From 34 adults 20 (59%) were accompanied to adult care, 14 are still in pre-transition section, 2 (5%) patients are lost in follow-up ([Table 1]).

Table 1 Pathologies of MFS in children and young

Pathology	Prevalence (<18 y)	Prevalence (>18 y)	p (Prevalence)
Sinus Valsalvae	73/115 (63%)	24/34 (70.6%)	ns
MVP	59/115 (51%)	19/34 (55.9%)	ns
Systemic manifestation	54/115 (46%)	18/34 (52.9%)	ns
Ectopia lentis	21/115 (18%)	8/34 (23.5%)	ns
Dura ectasia	37/ 69 (53%)	19/31 (61.2%)	ns

Conclusion: Age dependent onset of symptoms remains a challenge in MFS. Especially onset of cardiovascular abnormalities in young adults is very dynamic. To prevent complications early medical prophylaxis is effective and essential in childhood with BB and/or Sartan. Lifelong follow-up examinations of patients need to be standardized and a safe cooperation of pediatric cardiologists and adult cardiology is important. Patients in transition progress require special attention, assistance and a close contact to the patient and family. Finally, success of transition needs to be reevaluated before pediatric patient care ends.

No conflict of interest has been declared by the author(s).