Vascular Malformations

Preface
Contents
About the Editors
1: Vascular Malformations: Historical Perspective
	1.1	 Simple Vascular Malformations
	1.2	 Low-Flow Vascular Malformations
	1.3	 Lymphatic Malformations
	1.4	 High Flow Vascular Malformations
	1.5	 Combined Vascular Malformations
	1.6	 Vascular Malformations of Major Named Vessels
	1.7	 Vascular Malformations Associated with Other Anomalies
	1.8	 Syndromes Associated with Low Flow Vascular Malformations
		1.8.1	 Klippel–Trenaunay Syndrome
		1.8.2	 CLOVES Syndrome
		1.8.3	 Blue Rubber Bleb Nevus Syndrome
		1.8.4	 Maffucci Syndrome
		1.8.5	 Generalized Lymphatic Anomaly and Gorham–Stout Disease
	1.9	 Syndromes Associated with High Flow and Mixed Vascular Malformations
		1.9.1	 Parkes–Weber Syndrome
		1.9.2	 PTEN Hamartoma Syndrome
	1.10	 Unclassified Vascular Anomalies
	1.11	 Imaging of Vascular Anomalies
	1.12	 Treatment
	1.13	 Conclusion
	References
2: Epidemiology of Vascular Malformations
	2.1	 Classification of Vascular Anomalies
	2.2	 Epidemiology of Vascular Malformations
	2.3	 Capillary Malformation
	2.4	 Venous Malformation
	2.5	 Lymphatic Malformation
	2.6	 Arteriovenous Malformation
	2.7	 Genetic Syndromes Associated with Vascular Malformations
		2.7.1	 Sturge–Weber Syndrome
	2.8	 Conclusion
	References
3: Embryology of Vascular Malformation
	3.1	 Introduction
	3.2	 Development of the Blood Vascular System
	3.3	 Development of the Arterial System
	3.4	 Anomalous Development of Pharyngeal Arch Arteries
	3.5	 Development of the Venous System
	3.6	 Anamolies of the Venous System
	3.7	 Development of the Lymphatic System
	3.8	 Anomalous Development of the Lymphatic System
	References
4: Classification: General Overview
	4.1	 Hamburg Classification [17–20] (Table 4.1)
	4.2	 ISSVA Classification [21–24] (Tables 4.2 and 4.3)
	References
5: Approach to a Case of Vascular Malformation
	5.1	 Introduction
		5.1.1	 Molecular Basis of Vascular Anomalies
		5.1.2	 Clinical Presentation
		5.1.3	 An Overview of Major Vascular Anomalies
			5.1.3.1	 Vascular Tumors (Hemangiomas)
			5.1.3.2	 Congenital Vascular Malformations
			5.1.3.3	 Arteriovenous Malformations and Arteriovenous Fistulas
			5.1.3.4	 Venous Malformations
			5.1.3.5	 Capillary Malformations
			5.1.3.6	 Lymphatic Malformations
		5.1.4	 Imaging in Vascular Malformations
			5.1.4.1	 Conventional Radiology
			5.1.4.2	 Duplex Ultrasonography
			5.1.4.3	 Computed Tomography and CT Angiography
			5.1.4.4	 Magnetic Resonance Imaging (MRI) and MR Angiography (MRA)
			5.1.4.5	 Invasive Imaging
		5.1.5	 Conclusion
	References
6: Arterial Malformations
	6.1	 Introduction
	6.2	 Congenital Course and Origin Anomalies
		6.2.1	 Cranial Vessels
			6.2.1.1	 Intracranial Vessels
			6.2.1.2	 Extracranial Vessels
		6.2.2	 Aorta and its Branches
			6.2.2.1	 Aortic Arch Anomalies
			6.2.2.2	 Visceral Arteries
		6.2.3	 Peripheral Arteries
			6.2.3.1	 Variations in Lower Limb
			6.2.3.2	 Variations in Upper Limb Arteries
	6.3	 Congenital Arterial Aneurysms
		6.3.1	 Aneurysms of Cranial Vessels
			6.3.1.1	 Congenital Intracranial Aneurysms
			6.3.1.2	 Congenital Extracranial Aneurysms
		6.3.2	 Aortic Aneurysms
		6.3.3	 Aneurysms of Major Branch Vessels and Peripheral Arteries [Non-Aortic Aneurysms]
	6.4	 Congenital Stenosis, Hypoplasia, and Aplasia
		6.4.1	 Intracranial and Extracranial Vessels
			6.4.1.1	 Intracranial Vessels
			6.4.1.2	 Extracranial Vessels
		6.4.2	 Aorta
			6.4.2.1	 Interruption of Aortic Arch (IAA)
			6.4.2.2	 Hypoplastic Aortic Arch
			6.4.2.3	 Aortic Coarctation
		6.4.3	 Non-Aortic
			6.4.3.1	 Pulmonary Artery Anomalies
			6.4.3.2	 Visceral Artery Anomalies
			6.4.3.3	 Lower Limb
	References
7: Venous Malformations
	7.1	 Introduction
	7.2	 History
	7.3	 Etiology
	7.4	 Pathophysiology
	7.5	 Clinical Presentations
		7.5.1	 Indications
		7.5.2	 Relevant Anatomy
		7.5.3	 Contraindications
		7.5.4	 Laboratory Studies
		7.5.5	 Imaging Studies
		7.5.6	 Diagnostic Procedures
		7.5.7	 Histologic Findings
	7.6	 Management
		7.6.1	 Medical Therapy
		7.6.2	 Surgical Therapy
		7.6.3	 Follow-Up
		7.6.4	 Complications
		7.6.5	 Outcome and Prognosis
		7.6.6	 Future and Controversies
	7.7	 Conclusion
	References
8: Capillary Malformation
	8.1	 Introduction
	8.2	 Classification
	8.3	 Pathophysiology
	8.4	 Genetic Mutations and Syndromes
	8.5	 Sturge–Weber Syndrome (SWS)
	8.6	 Macrocephaly Capillary Malformation (M-CM)
	8.7	 Capillary Malformation-Arteriovenous Malformation (CM-AVM)
	8.8	 Klippel–Trenaunay Syndrome (KTS)
	8.9	 Cutis Marmorata Elangiectatica Congenital (CMTC)
	8.10	 Clinical Features
	8.11	 Natural Course
	8.12	 Imaging Studies
	8.13	 Medical Management
		8.13.1	 Imiquimod
		8.13.2	 Rapamycin
	8.14	 Surgical Management
	8.15	 Flashlamp-Pumped Pulsed-Dye Laser (PDL)
	8.16	 Photodynamic Therapy
	8.17	 Neodymium:Yttrium-Aluminum-Garnet Laser (Nd:YAG)
	8.18	 Combined PDL and Nd:YAG Laser Systems
	8.19	 Alexandrite Laser
	References
9: Cystic and Non-Cystic Lymphatic Malformations
	9.1	 Introduction
	9.2	 Contemporary Problems
	9.3	 Clinical Cases
		9.3.1	 A Clinical Case of Cystic Malformation in Hypogastrium with Normal Lymphatic Drainage of the Limb
		9.3.2	 The Most Common Types of Clinical Cases of Limb Lymphatic Non-Cystic Interstitial Malformations-Diagnosis and Therapy Recommendations
			9.3.2.1	 Inborn Lymphedema of Leg Without Drainage by Collecting Lymphatics
			9.3.2.2	 Inborn Lymphedema of Leg with Drainage by Collecting Lymphatics
			9.3.2.3	 Inborn Left Hand Edema with Lack of Picture of Forearm and Arm Collectors but Proximal Lymph Drainage
			9.3.2.4	 Inborn Foot Edema with Lack of Picture of Foot Collectors but Normal Calf Lymphatics
			9.3.2.5	 There are cases with foot edema and fast accumulation of the isotop in lymphoscintigraphy or the ICG dye in the urine
	9.4	 Methods for Diagnosis of Lymphatic Changes in Inborn Edema of Limbs
	9.5	 Recommended Methods of Therapy
		9.5.1	 Conservative Therapy
		9.5.2	 Surgical Therapy
	References
10: Combined Vascular Malformation
	10.1	 Combined Vascular Malformation
		10.1.1	 Malformations of Major Named Vessels
		10.1.2	 Vascular Malformations Associated with Other Anomalies
	10.2	 Slow Flow Malformation
		10.2.1	 Capillary-Lymphatico-Venous Malformation (Klippel–Trenaunay Syndrome)
		10.2.2	 Etiology and Genetics
		10.2.3	 Clinical Features
		10.2.4	 Diagnosis
		10.2.5	 Management
	10.3	 Maffucci Syndrome
	10.4	 Fast Flow Malformation
		10.4.1	 Capillary-Arteriovenous Malformation and Capillary Arteriovenous Fistulas (Parkes–Weber Syndrome)
	10.5	 Capillary Malformation-Arteriovenous Malformation
	10.6	 Bannayan–Riley–Ruvalcaba Syndrome (PTEN Hamartoma Syndrome)
	10.7	 Cloves Syndrome
	References
11: Investigations in Vascular Malformations
	11.1	 Non-Invasive Diagnostic Tools
		11.1.1 Duplex Ultrasound (DUS)
	11.2	 Duplex Ultrasound (DUS) Examination Procedure
		11.2.1 Define the Lesion: Diagnosis, Dimension, and Definite Classification
			11.2.1.1	 Doppler Mode (Color Doppler and Spectral Analysis)
			11.2.1.2	 Diagnosis and Definite Classification
			11.2.1.3	 Dimension
		11.2.2 Localization and Relationship with Regional Structures
		11.2.3 Location: Complete Pre-Operative Mapping
		11.2.4 Long Term Outcome (Follow-Up Studies): Complications/Success/Failure
			11.2.4.1	 Success/Failure of Endovascular Interventions
	11.3	 Venous Malformation (VM): Key Points
	11.4	 Lymphatic Malformations (LM): Key Points
	11.5	 Arterio-Venous Malformations (AVM): Key Points
	11.6	 Arterial Malformations: Key Points
	11.7	 Magnetic Resonance Imaging (MRI)
		11.7.1 Extratruncular Venous Malformations (VM)
		11.7.2 Extratruncular Lymphatic Malformations (LM)
		11.7.3 Arteriovenous Malformations (AVM)
		11.7.4 Follow-Up Studies
	11.8	 Computed Tomography (CT)
		11.8.1 Radiography
	11.9	 Invasive Diagnostic Evaluation
	11.10	 Nuclear Medicine Evaluation
		11.10.1 Whole Body Blood Pool Scintigraphy (WBBPS)
		11.10.2 Transarterial Lung Perfusion Scintigraphy (TLPS)
		11.10.3 Radionuclide Lymphoscintigraphy (LSG)
	11.11	 Laboratory Tests
		11.11.1 Histology
		11.11.2 Endoscopic Evaluation
		11.11.3 Genetic Testing and Family Screening
		11.11.4 Follow
	References
12: Medical Management of Vascular Malformations
	12.1	 Introduction
	12.2	 Medical Treatment
	12.3	 Topical
		12.3.1	 Timolol
		12.3.2	 Imiquimod 5% Cream
	12.4	 Systemic
		12.4.1	 Propanolol
		12.4.2	 Prednisolone
		12.4.3	 Vincristine
		12.4.4	 Interferon Alpha 2 Alpha
		12.4.5	 Doxycycline
		12.4.6	 Thalidomide
		12.4.7	 Sildenafil
		12.4.8	 Sirolimus
		12.4.9	 Angiogenesis Inhibitors
	12.5	 Intralesional Sclerosants
		12.5.1	 Sodium Tetra Decyl Sulfate (STS)
		12.5.2	 Absolute Alcohol (99% Ethanol)
		12.5.3	 Polidocanol
		12.5.4	 Bleomycin
	12.6	 Conclusion
	References
13: Surgical Treatment in Vascular Malformations
	13.1	 Introduction
	13.2	 Indications for Surgery
		13.2.1	 Arteriovenous Malformation (AVM)
		13.2.2	 Venous Malformation (VM)
		13.2.3	 Lymphatic Malformation (LM)
	13.3	 Tips for Surgery
		13.3.1	 Arteriovenous Malformation (AVM)
		13.3.2	 Venous Malformation (VM)
		13.3.3	 Lymphatic Malformation (LM)
	13.4	 Complications Related with Surgery
	13.5	 Cases of Surgery
	References
14: Lasers in Vascular Anomalies
	14.1	 Basic Laser Concepts
	14.2	 Capillary Malformation (Port-Wine Stain)
	14.3	 Infantile Hemangioma
	14.4	 Venous Malformation
	14.5	 Lymphatic Malformation
	14.6	 Conclusion
	References
15: Endovascular Management of Vascular Malformations
	15.1	 Introduction
	15.2	 Classification
	15.3	 Diagnosis and Investigation
		15.3.1 History and Clinical Examination
		15.3.2 Investigations
	15.4	 Vascular Tumours
		15.4.1 Hemangiomas
			15.4.1.1	 Introduction
		15.4.2 Classification
			15.4.2.1	 Infantile Hemangioma
			15.4.2.2	 Congenital Hemangioma
		15.4.3 Clinical Features
		15.4.4 Diagnosis
		15.4.5 Complications
		15.4.6 Management
		15.4.7 Tongue/Floor of Mouth Hemangiomas
	15.5	 Vascular Malformations
		15.5.1 Introduction
		15.5.2 Classification
		15.5.3 Low Flow Vascular Malformation
			15.5.3.1	 Capillary Malformation (Previously Called Port-Wine Stain/Capillary Hemangioma)
			15.5.3.2	 Venous Malformation
		15.5.4 Clinical Features
		15.5.5 Investigations
		15.5.6 Management
		15.5.7 Considerations during Sclerotherapy
		15.5.8 Sclerosants
		15.5.9 Surgical Excision
		15.5.10 Specific Locations
			15.5.10.1	 Lymphatic Malformation
		15.5.11 Clinical Features
		15.5.12 Diagnosis
		15.5.13 Treatment
		15.5.14 High Flow Vascular Malformations
			15.5.14.1	 Arteriovenous Malformations
		15.5.15 Investigations
		15.5.16 Treatment
	15.6	 Conclusion
	References
16: Radiological Interventions in Vascular Malformations
	16.1	 Introduction
	16.2	 Venous Malformation
	16.3	 Pre-Intervention Evaluation
	16.4	 Treatment
	16.5	 Minimally Invasive Intervention Approach
		16.5.1	 Sclerotherapy
	16.6	 Additional Venous Outflow Occlusion
	16.7	 Endovenous Ablation Techniques
	16.8	 Post-Intervention Care
	16.9	 Capillary Malformation
	16.10	 Treatment
	16.11	 Lymphatic Malformation (LM)
	16.12	 Conservative Management
	16.13	 Medical Therapy
	16.14	 Post-Procedural Care
	16.15	 Surgical Resection
	16.16	 Arteriovenous Malformations
	16.17	 Diagnosis
	16.18	 Treatment
	16.19	 Conservative Therapy
	16.20	 Embolotherapy
	16.21	 Post-Procedure Care
	16.22	 Conclusion
	References
17: Low-Flow Venous and Lymphatic Malformations: Permanent Ablations with Ethanol Sclerotherapy
	17.1	 Terminology of Hemangiomas and Vascular Malformations
		17.1.1	 Endovascular Occlusive Agents
		17.1.2	 Venous and Lymphatic Malformations
	17.2	 Summary
	References
18: Emergencies in Vascular Malformations
	18.1	 Introduction
	18.2	 Capillary Malformations
	18.3	 Lymphatic Malformations
	18.4	 Venous Malformations
	18.5	 AV Malformations
	18.6	 Treatment Principles of AV Malformations
	18.7	 Conclusion
	References
19: Quality of Life in Vascular Malformations
	19.1	 Introduction
	19.2	 Factors Affecting Quality of Life in Vascular Malformations Patients
	19.3	 Impact of Treatment on Quality of Life in Vascular Malformation
	19.4	 Impact of Treatment Failure on Quality of Life
	19.5	 Quality of Life
	19.6	 Scales Used for Assessment
	19.7	 Various Parameters of Quality of Life to Be Assessed
	19.8	 Conclusion
	References
20: Genetics of Vascular Malformations
	20.1	 Definition and Introduction
	20.2	 The Structure of Blood Vessels
	20.3	 Embryonic Development of Blood Vessels
	20.4	 Vascular Malformations Are Errors of Angiogenesis
	20.5	 The Genetics of Vascular Malformations
	20.6	 Classification of Vascular Anomalies
	20.7	 Vascular Tumors (Hemangiomas)
		20.7.1 Von Hippel–Lindau Syndrome
		20.7.2 Maffucci Syndrome
	20.8	 Capillary Malformations
		20.8.1 Sturge–Weber Syndrome
	20.9	 Venous Malformations
		20.9.1 Blue Rubber Bleb Nevus Syndrome
	20.10	 Arteriovenous Malformations
	20.11	 Lymphatic Malformations
	20.12	 Mixed Lesions
		20.12.1 Klippel–Trenaunay Syndrome
		20.12.2 Parkes-Weber Syndrome
		20.12.3 Proteus Syndrome
	20.13	 Conclusion
	References
21: The Yakes AVM Classification System: Cracking the Code for Curative AVM Endovascular Treatment
	21.1	 Concepts in the Embryologic Origins of Vascular Malformations
	21.2	 Classification of Hemangiomas and Vascular Malformations
	21.3	 Sclerotherapy of AVMs
	21.4	 The Cellular Basis for AVM Cure
	21.5	 Arteriovenous Malformations: The Yakes Classification and Its Therapeutic Implications
	21.6	 Summary
	References
22: Obstructive Malformations of the Internal Jugular Vein
	References