Chapter
Chapter 1 - Genetics of Aneurysms-Osteoarthritis Syndrome
3 - The TGF-β pathway: the canonical signaling
3.2 - Receptor Recruitment and Phosphorylation
3.3 - SMAD Phosphorylation and co-SMAD Binding
4 - The role of the TGF-β pathway in aneurysm formation
Chapter 2 - Cardiovascular Phenotype of Aneurysms-Osteoarthritis Syndrome
3 - Arterial aneurysms throughout the body
5 - Dissections and cardiovascular mortality
6 - Congenital heart defects
7 - Mitral valve anomalies and atrial fibrillation
8 - Left ventricular function and hypertrophy
9 - NT-proBNP as a biomarker
Chapter 3 - Systemic Features of Aneurysms-Osteoarthritis Syndrome
3 - Craniofacial abnormalities
4 - Neurological features
5 - Immunological features
7 - Classification of Aneurysms-Osteoarthritis syndrome
Chapter 4 - Differential Diagnosis in Heritable Thoracic Aortic Diseases
Chapter 4a - Marfan Syndrome
1 - Definitions and diagnosis
2 - Clinical genetic aspects of Marfan syndrome
3 - Clinical manifestations
3.1 - Cardiovascular Manifestations
3.1.1 - Aorta and Pulmonary Artery
3.1.2 - Mitral Valve Prolapse
3.1.3 - Cardiomyopathy and Arrhythmias
3.2 - Skeletal Manifestations
3.3 - Ocular Manifestations
3.4 - Pulmonary Involvement in Marfan Syndrome
4 - Etiology and pathophysiology
5 - Management and treatment of Marfan syndrome
6 - Pregnancy with Marfan syndrome
Chapter 4b - Loeys-Dietz Syndrome
2.1 - Craniofacial Manifestations
2.2 - Skeletal Manifestations
2.3 - Cardiovascular Manifestations
2.4 - Cutaneous Manifestations
2.5 - Other Recurrent Findings
4 - Expanding genetic basis
Chapter 4c - Ehlers-Danlos Syndrome
2 - Clinical presentation
3 - Subtypes of Ehlers-Danlos syndrome
3.1 - Classic Type of Ehlers-Danlos Syndrome (COL5A1/COL5A2)
3.2 - TNX-Deficient Ehlers-Danlos Syndrome (TNXB)
3.3 - Hypermobile Type of Ehlers-Danlos Syndrome
3.4 - Vascular Type of Ehlers-Danlos Syndrome (COL3A1)
3.5 - Ehlers-Danlos Syndrome with Periventricular Nodular Heterotopia (FLNA)
3.6 - Kyphoscoliotic Form of Ehlers-Danlos Syndrome (PLOD1)
3.7 - Arthrochalasia Type of Ehlers-Danlos Syndrome (COL1A1, COL1A2)
3.8 - Ehlers-Danlos/Osteogenesis Imperfecta Overlap Syndrome (COL1A1/COL1A2)
3.9 - Dermatosparaxis Type of Ehlers-Danlos Syndrome (ADAMTS2)
3.10 - Cardiac-Valvular Type of Ehlers-Danlos Syndrome (COL1A2)
3.11 - Vascular-Like Type of Ehlers-Danlos Syndrome (COL1A1)
3.12 - Progeroid Type of Ehlers-Danlos Syndrome (B4GALT7)
3.13 - B3GALT6-Deficient Type Ehlers-Danlos Syndrome (B3GALT6)
3.14 - Musculocontractural Type of Ehlers-Danlos Syndrome/Adducted Thumb-Clubfoot Syndrome (CHST14, DSE)
3.15 - FKPB14-Deficient Ehlers-Danlos Syndrome (FKBP14)
3.16 - Spondylocheirodysplastic type of Ehlers-Danlos Syndrome (SLC39A13)
3.17 - Periodontitis Type of Ehlers-Danlos Syndrome
Chapter 4d - Bicuspid Aortic Valve
3 - Embryology of the aortic valve and proximal aorta
4 - Genes involved in the malformation of the conotruncus
5 - The relationship between aortic dilatation and bicuspid aortic valve
6 - Clinical presentation of patients with a bicuspid aortic valve
7 - Evaluation of patients with bicuspid aortic valve
7.2 - Physical Examination
7.3.1 - Electrocardiography
7.3.2 - Laboratory Testing
7.3.4 - Cardiac-MRI and Cardiac-CT
7.3.5 - Cardiopulmonary Exercise Testing
8.2 - Surgical Intervention
8.4 - Family Screening and Exercise
8.6 - Management During Pregnancy
Chapter 4e - Turner Syndrome
3 - Cardiovascular disease
3.2 - Congenital Abnormalities
3.2.1 - Bicuspid Aortic Valve
3.2.2 - Coarctation of the Aorta
3.2.3 - Congenital Aortic Arch Abnormalities
3.2.3.1.1 - Aberrant right subclavian artery
3.2.4.1 - Partial Abnormal Pulmonary Venous Return
3.2.4.2 - Persistent Left-Sided Superior Vena Cava
3.2.4.3 - Interrupted Inferior Vena Cava with Azygous Continuation
3.3 - Acquired Heart Disease
3.3.1 - Aortic Dissection
3.3.2 - Aortic Dilatation
Chapter 5 - Cardiovascular Imaging in Aneurysm-Osteoarthritis Syndrome
2.2 - Computed Tomography
2.3 - Magnetic Resonance Imaging
3 - Imaging of aortic aneurysms
4 - Imaging of small and medium-size vessels
5 - Imaging of aortic dissections
6 - Imaging after aortic surgery
Chapter 6 - Treatment Options
Chapter 6a - Optimal Cardiovascular Medical Treatment
1 - Beta-blockers: standard of care?
2 - From symptomatic to causal treatment
3 - Angiotensin receptor blockers: an alternative treatment strategy?
4 - Future treatment options
Chapter 6b - Cardiothoracic Surgical Experience
2 - Indications for elective aortic root surgery
3 - Surgical technique for valve-sparing aortic root replacement
4 - Elective valve-sparing aortic root replacement experience
5 - Recommendations for elective aortic root surgery
Chapter 6c - Vascular Interventions and Surgical Experience
2 - Involvement of the visceral and iliac arteries in Aneurysms-Osteoarthritis syndrome
3 - Visceral and iliac artery aneurysm growth
4 - Open vascular interventions
5 - Endovascular interventions
6 - Recommendations for open and endovascular interventions
Chapter 6d - Orthopedic Evaluation and Treatment Options
2 - Etiology and pathogenesis
3 - Musculoskeletal evaluation and phenotypic presentation
5 - Osteochondritis dissecans
Chapter 6e - Genetic Counseling
2.1 - Genetic Testing of Patients
2.2 - Genetic Testing of Family Members
3 - Genetic testing in minors
Chapter 6f - Approach to Clinical Management
3 - Monitoring and referral
5 - Psychosocial adjustment
6 - A multidisciplinary team approach