Stark Veronika C, Doering Katrin, von Kodolitsch Yskert, Kozlik-Feldmann Rainer, Mueller Götz C, Olfe Jakob, Rybczynski Meike, Schueler Helke, Mir Thomas S
Pediatric Cardiology, University Heart Center, Hamburg, Germany.
Cardiology, University Heart Center, Hamburg, Germany.
Cardiovasc Diagn Ther. 2018 Dec;8(6):698-704. doi: 10.21037/cdt.2018.09.13.
Care for patients with Marfan syndrome (MFS) has improved substantially in recent decades. Increasing clinical knowledge and genetic analysis allow early diagnosis of the disease in childhood. Because of the earlier initiation to preventive and medical treatment, patients' life expectancy has risen. To ensure optimal care, pediatric patients require a safe follow-up regime, multidisciplinary care, and a safe transition to adult care.
We collected a sample of 149 pediatric Marfan patients, of whom 34 patients had already been transferred to adult care or who were currently transitioning. First, we evaluated clinical aspects of patients that manifest in childhood and are present in the transition process. Second, we analyzed the transition process itself.
We found age-dependent manifestation of organ pathologies. Dilatation of the sinus of Valsalva showed a particularly high prevalence during the transition process and 62% of patients required medical treatment. Mean onset of aortic root dilatation was 9.9±5.8 years. Concerning systemic manifestation in MFS skin striae, wrist and thumb sign, and reduced elbow extension occurred significantly more often in patients who were transitioning than in younger children with MFS. All other clinical Marfan features showed an increased prevalence in patients who were transitioning compared with younger patients. In our cohort, transition was successful in 20 patients (58.9%), 12 patients (35.3%) are still in the transition process and 2 patients (5.9%) were lost to follow up.
Marfan patients in the transition process are already under a chronic disease condition with a high onset of especially cardiovascular pathologies. Although early medical treatment in childhood is effective, the pathologies of the connective tissue require lifelong attention and influence life in many ways. The big challenge during transition is the double change of responsibility from the parents and pediatric doctor to the patient and adult doctor. Consequently, patients in transition process require special attention and close contact with the doctor and the family. A reevaluation by the supervising pediatric Marfan specialist of the successful transition to adult care is indispensable before the pediatric care of Marfan patients is completed.
近几十年来，对马凡综合征（MFS）患者的护理有了显著改善。临床知识的增加和基因分析使得该病在儿童期就能得到早期诊断。由于预防和医疗治疗的早期介入，患者的预期寿命有所提高。为确保最佳护理，儿科患者需要一个安全的随访方案、多学科护理以及向成人护理的安全过渡。
我们收集了149例儿科马凡综合征患者的样本，其中34例患者已经转入成人护理或正在过渡中。首先，我们评估了患者在儿童期出现且在过渡过程中存在的临床方面。其次，我们分析了过渡过程本身。
我们发现器官病变存在年龄依赖性表现。在过渡过程中，主动脉瓣窦扩张的患病率特别高，62%的患者需要治疗。主动脉根部扩张的平均发病年龄为9.9±5.8岁。关于马凡综合征的全身表现，皮肤条纹、手腕和拇指征以及肘部伸展受限在正在过渡的患者中比在较年轻的马凡综合征患儿中出现得更为频繁。与较年轻患者相比，所有其他临床马凡特征在正在过渡的患者中的患病率均有所增加。在我们的队列中，20例患者（58.9%）过渡成功，12例患者（35.3%）仍在过渡过程中，2例患者（5.9%）失访。
处于过渡过程中的马凡综合征患者已经处于慢性疾病状态，尤其是心血管病变的发病率很高。虽然儿童期的早期医疗治疗是有效的，但结缔组织病变需要终身关注，并在许多方面影响生活。过渡期间的一大挑战是责任从父母和儿科医生向患者和成人医生的双重转变。因此，处于过渡过程中的患者需要特别关注，并与医生和家庭保持密切联系。在完成马凡综合征患者的儿科护理之前，由负责监督的儿科马凡综合征专家对向成人护理的成功过渡进行重新评估是必不可少的。
