Congenital Aortic Stenosis and Aneurysms

Due to improvements in pediatric cardio-thoracic surgery, anesthesia and diagnostics over the past decades, the number of adult patients with congenital heart disease (CHD) is growing. This causes an increasing demand in clinical practice for insight in long term outcome in both non-operated and operated adult CHD patients. Furthermore, knowledge about etiology and genetics of CHD is rapidly expanding. Every day new genes and syndromes are identified. In order to grasp the exact nature of the pathologies described in this thesis, the epidemiology of CHD and the functional anatomy of the left ventricular outflow tract and aorta will first be delineated. Thereafter, the congenital aortic disorders investigated in this thesis will be introduced individually. Finally, the aim and outline of this thesis will be presented

Psychological well-being in patients with aneurysms-osteoarthritis syndrome

Aneurysms-osteoarthritis syndrome (AOS) is characterized by arterial aneurysms and dissection in combination with early-onset osteoarthritis, which can impact quality of life. We describe the subjective quality of life and investigate anxiety and depression in 28 AOS patients aged 15–73 years. Three questionnaires were used: 36-Item Short Form Survey (SF-36), hospital anxiety and depression scale (HADS) and Rotterdam disease specific questionnaire. Results of the SF-36 and HADS were compared to a reference Dutch cohort and the SF-36 questionnaire also to patients with Marfan syndrome. Compared to the general population, AOS patients scored significantly lower on the following SF-36 domains: physical functioning, vitality, social functioning, bodily pain, and general health. Physical functioning was also lower than in Marfan patients. Patients with AOS scored higher on the HADS depression scale, while anxiety did not show a significant difference compared to the general population. No difference in SF-36 and HADS domain scores were found between patient with and without orthopaedic symptoms and patients with or without previous aortic surgery. Additionally, we found that patients' worries for their future and heredity o

Pulmonary stenosis: Update on diagnosis and therapeutic options

Pulmonary stenosis (PS) accounts for approximately 8% of all congenital heart defects.1 Valvular PS is usually an isolated defect, but it can be associated with other congenital heart defects, such as atrial septal defect (ASD), ventricular septal defect (VSD), and persistent ductus arteriosus. Combined valvular and infundibular PS can be part of tetralogy of Fallot (ToF). The clinical presentation of PS may vary from critical stenosis in the newborn, to asymptomatic mild stenosis without need for therapy throughout life. The need for treatment of critical PS in the newborn is obvious, but the optimal timing, type of treatment, and follow-up strategy for the asymptomatic patient is less well defined

Aneurysm-osteoarthritis syndrome with visceral and iliac artery aneurysms

Objective: Aneurysms-osteoarthritis syndrome (AOS), caused by SMAD3 mutations, is a recently described autosomal-dominant syndrome c

Temperature influence on embryonic development of Anopheles albitarsis and Anopheles aquasalis

Temperature influence on the embryonic development of Anopheles aquasalis and An. albitarsis was investigated. At 26ºC, 75% and 60% of respectively An. aquasalis and An. albitarsis eggs hatched, with one peak of eclosion, between the 2nd and 3rd day after oviposition. At 20 ± 2ºC, around 66-70% of An. aquasalis eggs hatched, with one eclosion peak, on the 5th day. On the other hand, An. albitarsis eclosion at 21 ± 2ºC decreased to 10-22%, with two eclosion peaks, on the 4th-5th day and on the 9th-12th day. These data indicate a stronger temperature influence over An.albitarsis than over An. aquasalis embryos