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

Ventricular‐Vascular Coupling in Marfan and Non‐Marfan Aortopathies

Background: Marfan syndrome (MFS) and familial non–syndromal thoracic aortic aneurysm and dissection (ns‐TAAD) are genetic aortopathies causing aortic dilatation with increased aortic stiffness. Left ventricular (LV) contractility and ventricular‐vascular coupling index (VVI) were compared between MFS and ns‐TAAD and determinants of VVI were investigated. Methods and Results: Patients with MFS (M 57, F 47) and ns‐TAAD (M 72, F 39) were studied by echocardiography and compared with controls (M 77, F 71). Aortic geometry, hemodynamics, LV work, LV contractility (end‐systolic elastance [Ees]), and VVI were documented. Aortic sinuses were equally dilated in MFS (19.7±2.4) and ns‐TAAD (19.8±1.8) compared to controls (16.2±1.4 mm·m−2, P<0.001). Aortic stiffness index was increased in MFS (9.7±5.1) and ns‐TAAD (10.8±4.7) versus controls (5.4±2.0, P<0.01); LV stroke work was unchanged in MFS (436±74) compared to controls (435±60) but increased in ns‐TAAD (492±109 mJ·m−2 P<0.01). The LV Ees was reduced in MFS (1.32±0.19) compared to controls (1.65±0.29 mm Hg·mL−1, P<0.01) but increased in ns‐TAAD (1.83±0.30, P<0.01) and VVI was abnormal in MFS (0.71±0.11) compared to controls (0.62±0.07, P<0.01) and ns‐TAAD (0.62±0.09). Treatment with β‐blockers was associated with partial normalization of VVI in MFS. A VVI ≥0.8 was associated with increased risk of death and heart failure in MFS. Conclusions: Left ventricular contractility and ventricular‐vascular coupling are abnormal in MFS but preserved in ns‐TAAD, and are independent of aortic stiffness, consistent with intrinsic impairment of myocardial contractility in MFS

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

Aneurysms-osteoarthritis syndrome : SMAD3 gene mutations /

"[This book] is a first-of-its-kind compilation of the genetic discovery, research, and care associated with AOS. With the field of genetically triggered aortopathies growing, this important reference will compile the newest discoveries in this field, allowing cardiologists, cardio-thoracic surgeons, clinical geneticists, vascular surgeons, orthopedic surgeons, and researchers to gain the knowledge they need without having to gather the data from various sources.Coverage includes genotype and phenotype correlations, the functional role of SMAD3, and insights into the role of TGFbeta signaling in aortic disease. The book will increase knowledge about AOS, providing awareness and better patient care for this aggressive disease." -- from website publisherIncludes bibliographical references and index.Online resource, title from PDF title page (EBSCO, viewed October 23, 2016)."[This book] is a first-of-its-kind compilation of the genetic discovery, research, and care associated with AOS. With the field of genetically triggered aortopathies growing, this important reference will compile the newest discoveries in this field, allowing cardiologists, cardio-thoracic surgeons, clinical geneticists, vascular surgeons, orthopedic surgeons, and researchers to gain the knowledge they need without having to gather the data from various sources.Coverage includes genotype and phenotype correlations, the functional role of SMAD3, and insights into the role of TGFbeta signaling in aortic disease. The book will increase knowledge about AOS, providing awareness and better patient care for this aggressive disease." -- from website publisherChapter 1 - Genetics of Aneurysms-Osteoarthritis Syndrome -- Chapter 2 - Cardiovascular Phenotype of Aneurysms-Osteoarthritis Syndrome -- Chapter 3 - Systemic Features of Aneurysms-Osteoarthritis Syndrome -- Chapter 4 - Differential Diagnosis in Heritable Thoracic Aortic Diseases -- Chapter 4a - Marfan Syndrome -- Chapter 4b - Loeys-Dietz Syndrome -- Chapter 4c - Ehlers-Danlos Syndrome -- Chapter 4d - Bicuspid Aortic Valve -- Chapter 4e - Turner Syndrome -- Chapter 5 - Cardiovascular Imaging in Aneurysm-Osteoarthritis Syndrome -- Chapter 6 - Treatment Options -- Chapter 6a - Optimal Cardiovascular Medical Treatment -- Chapter 6b - Cardiothoracic Surgical Experience -- Chapter 6c - Vascular Interventions and Surgical Experience -- Chapter 6d - Orthopedic Evaluation and Treatment Options -- Chapter 6e - Genetic Counseling -- Chapter 6f - Approach to Clinical ManagementElsevie

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