Cover

Title page

Copyright page

Contents

List of Contributors

Preface

Chapter 1 - Genetics of Aneurysms-Osteoarthritis Syndrome

1 - Genetics

2 - Pathophysiology

3 - The TGF-β pathway: the canonical signaling

3.1 - Ligand Binding

3.2 - Receptor Recruitment and Phosphorylation

3.3 - SMAD Phosphorylation and co-SMAD Binding

3.4 - Transcription

4 - The role of the TGF-β pathway in aneurysm formation

References

Chapter 2 - Cardiovascular Phenotype of Aneurysms-Osteoarthritis Syndrome

1 - Introduction

2 - Aortic aneurysms

3 - Arterial aneurysms throughout the body

4 - Arterial tortuosity

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

10 - Arterial stiffness

11 - Pregnancy

12 - Conclusions

References

Chapter 3 - Systemic Features of Aneurysms-Osteoarthritis Syndrome

1 - Joint anomalies

2 - Skeletal anomalies

3 - Craniofacial abnormalities

4 - Neurological features

5 - Immunological features

6 - Additional features

7 - Classification of Aneurysms-Osteoarthritis syndrome

References

Chapter 4 - Differential Diagnosis in Heritable Thoracic Aortic Diseases

1 - Introduction

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

References

Chapter 4b - Loeys-Dietz Syndrome

1 - Initial description

2 - Clinical features

2.1 - Craniofacial Manifestations

2.2 - Skeletal Manifestations

2.3 - Cardiovascular Manifestations

2.4 - Cutaneous Manifestations

2.5 - Other Recurrent Findings

3 - Diagnostic criteria

4 - Expanding genetic basis

5 - Pathophysiology

References

Chapter 4c - Ehlers-Danlos Syndrome

1 - Introduction

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

References

Chapter 4d - Bicuspid Aortic Valve

1 - Introduction

2 - Definition

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

7.1 - History

7.2 - Physical Examination

7.3 - Additional Testing

7.3.1 - Electrocardiography

7.3.2 - Laboratory Testing

7.3.3 - Echocardiography

7.3.4 - Cardiac-MRI and Cardiac-CT

7.3.5 - Cardiopulmonary Exercise Testing

8 - Treatment

8.1 - Follow-Up

8.2 - Surgical Intervention

8.3 - Medical Therapy

8.4 - Family Screening and Exercise

8.5 - Prognosis

8.6 - Management During Pregnancy

References

Chapter 4e - Turner Syndrome

1 - Introduction

2 - Genetics

3 - Cardiovascular disease

3.1 - Etiology

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 - Aortic Arch

3.2.3.1.1 - Aberrant right subclavian artery

3.2.3.1.2 - Bovine arch

3.2.4 - Venous Anomalies

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

3.3.3 - Hypertension

3.4 - Pregnancy

References

Chapter 5 - Cardiovascular Imaging in Aneurysm-Osteoarthritis Syndrome

1 - Aortic anatomy

2 - Imaging techniques

2.1 - Echocardiography

2.2 - Computed Tomography

2.3 - Magnetic Resonance Imaging

3 - Imaging of aortic aneurysms

4 - Imaging of small and medium-size vessels

4.1 - Visceral Arteries

4.2 - Cerebral Arteries

5 - Imaging of aortic dissections

6 - Imaging after aortic surgery

References

Chapter 6 - Treatment Options

1 - Introduction

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

References

Chapter 6b - Cardiothoracic Surgical Experience

1 - Introduction

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

6 - Conclusions

References

Chapter 6c - Vascular Interventions and Surgical Experience

1 - Introduction

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

7 - Conclusions

References

Chapter 6d - Orthopedic Evaluation and Treatment Options

1 - Introduction

2 - Etiology and pathogenesis

3 - Musculoskeletal evaluation and phenotypic presentation

4 - Osteoarthritis

5 - Osteochondritis dissecans

6 - Spinal disorders

7 - Conclusions

References

Chapter 6e - Genetic Counseling

1 - Introduction

2 - Counseling procedure

2.1 - Genetic Testing of Patients

2.2 - Genetic Testing of Family Members

3 - Genetic testing in minors

4 - Reproductive options

References

Chapter 6f - Approach to Clinical Management

1 - Introduction

2 - Initial screening

3 - Monitoring and referral

4 - Children

5 - Psychosocial adjustment

6 - A multidisciplinary team approach

7 - Conclusions

References

Index

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