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

Serial RV wall stress measurements: association with right ventricular function in repaired Tetralogy of Fallot patients

Background: Optimal timing of pulmonary valve replacement (PVR) in Tetralogy of Fallot (TOF) patients remains challenging. Ventricular wall stress is considered to be an early marker of right ventricular (RV) dysfunction.Objectives: To investigate the association of RV wall stresses and their change over time with functional parameters in TOF patients.Methods: Ten TOF patients after surgical repair with moderate/severe pulmonary regurgitation were included. At two timepoints (median follow-up time 7.2 years), patient-specific computational biventricular models for wall stress assessment were created using CMR short-axis cine images and echocardiography-based RV pressures. RV ejection fraction (RVEF), NT-proBNP and cardiopulmonary exercise tests were used as outcome measures reflecting RV function. Associations between regional RV diastolic wall stress and RV function were investigated using linear mixed models.Results: Increased wall stress correlated with lower RV mass (rrm = −0.70, p = 0.017) and lower RV mass-to-volume (rrm = −0.80, p = 0.003) using repeated measures. Wall stress decreased significantly over time, especially in patients with a stable RVEF (p < 0.001). Higher wall stress was independently associated with lower RVEF, adjusted for left ventricular ejection fraction, RV end-diastolic volume and time since initial surgery (decrease of 1.27% RVEF per kPa increase in wall stress, p = 0.029) using repeated measurements. No association was found between wall stress, NT-proBNP, and exercise capacity.Conclusions: Using a computational method to calculate wall stress locally in geometrically complex ventricles, we demonstrated that lower wall stress might be important to maintain ventricular function. RV wall stress assessment can be used in serial follow-up, and is potentially an early marker of impending RV dysfunction.Medical Instruments & Bio-Inspired Technolog