Clinical and Surgical Aspects of Congenital Heart Diseases: Text and Study Guide

Preface
Contents
Genetic Basis of Congenital Heart Disease
Introduction
Aneuploidy
Trisomy 21 (Down Syndrome)
Monosomy X (Turner Syndrome)
Copy Number Variations
22q11.2 Deletion Syndrome
Other Common CNVs
Single-Gene Variations
Syndromic Single-Gene Variations
Alagille Syndrome
Holt–Oram Syndrome
Noonan Syndrome
Nonsyndromic Single-Gene Variations
References
Epidemiology of Congenital Heart Diseases
Introduction
Prevalence
Etiology
Mortality and Survival Rate
Classification of Congenital Heart Disease
Acyanotic Congenital Heart Disease
Ventricular Septal Defects
Atrial Septal Defects
Patent Ductus Arteriosus
Cyanotic Congenital Heart Disease
Tetralogy of Fallot
Transposition of the Great Arteries
Adult Congenital Heart Disease
References
Diagnosis of CHD During Perinatal Life
Introduction
General Considerations for a Fetal Cardiac Scan
Views of a Fetal Cardiac Scan
Basic Fetal Cardiac Scan
Four-Chamber View of the Heart
Left Ventricular Outflow Tract View
Right Ventricular Outflow Tract View
Fetal Congenital Heart Diseases
Conotruncal Anomalies
Right Heart Defects
Anomalies of the Left Heart
Septal Defects
References
Ventricular Septal Defect
Introduction
Pathophysiology
Clinical Features
Presentation
Diagnosis
Differential Diagnosis
Management
Overview
Neonates
Small VSD
Moderate to Large VSD
Closure Interventions
References
Atrial Septal Defect
Introduction
Pathophysiology
Diagnosis
Clinical Manifestations and Physical Findings
Electrocardiogram
Chest Radiograph
Imaging-Based Diagnosis
Transthoracic Echocardiography
Transesophageal Echocardiography
Cardiovascular Magnetic Resonance, Computed Tomography and Cardiac Catheterization
Management
Conclusion
References
Patent Ductus Arteriosus
Introduction
Anatomy
Pathophysiology
Functional Closure
Epidemiology
Prognosis
Morbidity
Mortality
Signs and Symptoms
Diagnosis of PDA
Echocardiography
Chest Radiography
Electrocardiography
Angiography and Catheterization
Managements
Indomethacin
Ibuprofen
Diuretics
Catheterization
Amplatzer Duct Occluder
Rashkind Ductus Occlusion Device
Surgical Ligation
Hospitalization
References
The Coarctation of Aorta
Introduction
Pathophysiology
Diagnosis
History
Physical Examination
Arteril Pulse
Ausculation
ECG
X-Ray
Echocardiogram
Management
Early Management
Surgical Treatment
Late Management
Medical Treatment
Procedure
Follow-Up
References
Truncus Arteriosus
Introduction
Pathophysiology
Etiology
Diagnosis
Prenatal Diagnosis
Postnatal Diagnosis
Investigations
Differential Diagnosis
Management
Palliative Treatment
Corrective Treatment
Postoperative Period
Prognosis
Follow-Up
References
Tricuspid Atresia
Introduction
Epidemiology
Embryology and Genetic Background
Pathogenesis
Classification
Clinical Presentation
Diagnosis
Prenatal Diagnosis
Postnatal Diagnosis
Management and Treatment
Outcome and Follow-Up
Conclusion
References
Teratology of Fallot (TOF)
Introduction
Epidemiology
Pathophysiology
Embryonic Aspect of TOF
Anatomical Aspects of TOF
Hemodynamic Aspect of TOF
Genetic Aspect of TOF
Embryological Aspect of TOF
Associated Anomalies
Clinical Features
Physical Examination
Hypercyanotic Spells
Diagnosis
Differential Diagnosis
Management
Treatment of Hypercyanotic Spells
Medical Treatment of TOF
Surgical Treatment of TOF
Surgery of TOF in Adults
Time of Surgery
Procedure of Surgery
Choosing the Type of Valve (Bioprosthetic or Mechanical Valve)
Using of AICD (Automatic Implantable Cardioverter-Defibrillator)
Radiofrequency Ablation
Postoperative Monitoring
Outcomes of Surgery
Complications of Surgery
Prophylaxis for Infective Endocarditis
Secondary prevention
Patient Education
Reoperation
Prognosis
Follow-Up
Complications of TOF
References
Total Anomalous Pulmonary Venous Return
Introduction
Etiology
Darlings Classification
Supracardiac Total Anomalous Pulmonary Venous Return
Cardiac Total Anomalous Pulmonary Venous Return
Infracardiac Total Anomalous Pulmonary Venous Return
Mixed-Type TAPVC
Signs and Symptoms
Diagnosis
Treatment for Total Anomalous Pulmonary Venous Return
Follow-Up Care for TAPVR
References
Multiple Malformations
Introduction
Cantrell Pentalogy
Classification
Etiology and Incidence
Pathogenesis
Diagnosis
Clinical Characteristics
Associated Anomalies
Treatment
Shone Syndrome
Etiology and Prevalence
Diagnosis
Clinical Features
Cor Triatriatum
Supramitral Ring
Parachute Bicuspid Valve
Aortic Coarctation
Hypoplastic Aortic Arch
Subaortic Stenosis
Bicuspid Aortic Valve
Hypoplastic Left Ventricle
Scimitar Syndrome
Epidemiology
Classification
Etiology
Clinical Presentation
Diagnosis
Differential Diagnosis
Treatment
Complications
References
Ectopia Cordis
Introduction
Associated Anomalies
Etiology
Classification
Genetic Basis of EC
Prognosis of EC
Differential Diagnosis of EC
Diagnosis of EC
Management of EC
Surgery
The Procedure of Surgery
Outcomes of Surgery
References
Aortic Stenosis (AS)
Introduction
Epidemiology
Anatomy of the Aortic Valve
Etiology
Valvular Aortic Stenosis
Supravalvular
Subvalvular
Pathophysiology
Adult Presentation
Syncope
Neonatal Presentation
Diagnosis
Physical Examination
ECG
Echocardiography
Stress Test
Findings on Auscultation
Management
Medical Management
Surgical Management
References
Atrioventricular Septal Defect
Introduction
Pathophysiology
Types
Anatomy
Embryology
Clinical Presentation
Diagnosis
Prenatal Diagnosis
Postnatal Diagnosis
Imaging Studies
Chest Radiography
Doppler Echocardiography
Electrocardiography
Diagnostic Procedures
Cardiac Catheterization
Treatment
Medical Therapy
Surgical Therapy
Follow-Up
Postoperative Complications, Outcome, and Prognosis
Conclusion
References
Bicuspid Aortic Valve
Introduction
Background
Embryology
Bicuspid Aortic Valve Morphology
Epidemiology
Clinical Presentation and Diagnosis
Imaging Studies
Chest X-Ray
Echocardiography
Angiography
Transesophageal Echocardiography
Treatment Plans (Medical, Surgical, Diet, Activity)
Associated Pathologies and Their Outcome
Aortic Stenosis
Aortic Regurgitation
Patent Ductus Arteriosus
Supravalvular AS and William’s Syndrome
Ventricular Septal Defect
Bacterial (Infective) Endocarditis
The Bicuspid Aortic Valve and Aortic Wall Abnormalities
Coarctation of the Aorta (COA)
Aortic Root Dissection
Aortopathy
Survival Rate
Conclusion
References
Cardiomyopathies
Introduction
Dilated Cardiomyopathy
Epidemiology
Etiology (Table 1)
Genetic Causes of DCM
Clinical Manifestations
Diagnosis
ECG
Echocardiography
Cardiac Magnetic Resonance Imaging
Myocarditis and DCM
Peripartum Cardiomyopathy (PPCM)
Stress-Induced Cardiomyopathy
Drug-Induced Cardiomyopathy
Management
Restrictive Cardiomyopathy “RSC”
Etiology (Table 2)
Loeffler Endocarditis
Treatment and Management
Amyloidosis
Diagnostics
ECG
Echocardiography
Cardiovascular Magnetic Resonance (CMR)
Treatment
Hypertrophic Cardiomyopathy (HOCM)
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Mitral Valve Replacement
Pacemaker Implantation
Catheter Septal Ablation
Alcohol Septal Ablation
Implantable Cardioverter Defibrillator (ICD)
Cardiac Transplantation
References
Complete Heart Block (CHB)
Introduction
Physiology
Epidemiology
Etiology
History and Physical Examinations
Diagnoses
Differential Diagnosis
Complications and Prognosis
Treatment/Management
References
Dextrocardia
Introduction
Definitions
Epidemiology
Etiology
Pathophysiology
Clinical Presentation
Symptoms
Sign
Evaluation of Physical Examination
Assessment on Investigations
Treatment and Management
Medical
Surgical
Complications
Prognosis
Counseling and Educating Parents
Differential Diagnosis
References
Double Inlet Left Ventricle
Introduction
Causes
Pathophysiology
Prognosis
Complications
Atrial Tachyarrhythmias
Thromboembolism
Malformations of the Pulmonary Arteriovenous System
Plastic Bronchitis
Systemic-to-Pulmonary Arterial Collaterals Are Formed
Clinical Features
History
Physical Examination
Differential Diagnosis
DD of Double Inlet Left Ventricle
Classification DILV (Fig. 1)
Diagnosis
Laboratory Investigations
Imaging
Two-Dimensional Echocardiography and Doppler Analysis
Chest X-Ray
ECG
Holter Placement
MRI
Catheterization
Treatment
Surgical Procedures
Complications of the Fontan Procedure Include
Aortic Arch Blockage or Stenosis of the Pulmonary Outflow Tract
The Physiologic Sensitivity of Infants Treated with a Norwood-Type Operation Was Reduced
Creating a Cavopulmonary Circulatory System
Transplantation of the Heart
Prevention
Difference in Between the Double Outlet RV and the Double Inlet LV
References
Double Outlet Right Ventricle
Introduction
Pathophysiology
Subaortic VSD Type
Subpulmonary VSD Type
Doubly Committed VSD Type
Noncommitted VSD Type
Clinical Features
Diagnosis
Echocardiography
Cardiac Angiography
Magnetic Resonance Imaging (MRI)
Chest Radiography
Computed Tomography (CT) Scanning
Management
Indications for Surgery
Contraindications for the Surgery
Preoperative Assessment
Intraoperative Assessment
Repair of DORV with Subaortic VSD Subtype
Subpulmonary VSD Type Repair
Doubly Committed VSD-Type Repair
Noncommitted VSD Repairs
Outcome and Prognosis
References
Ebstein’s Anomaly
Introduction
Associated Defects with EA
Associated Defects
Teratogens and the Role of Genetics in EA
Syndromic EA Could Be Due To
Pathophysiology of EA
Clinical Manifestation
Diagnosis
Appearance and Physical Examination Show
While Imaging Techniques Include
Treatment
Medical Management of Patients with EA
Indication for Surgical Repair
Surgical Procedures
Biventricular Repair Procedures
Technique of Knott–Craig Monocusp
da Silva Cone Repair Procedure
Prognosis
References
Hypoplastic Left Heart Syndrome
Background
Postnatal Anatomy of a Human Heart
Functionalities of the Four Heart Chambers
Anatomy of the Fetal Heart
Heart of a Newborn
Right Heart
Left Heart
What Is HLHS?
Epidemiology of the HLHS
Genecology and Genealogy of HLHS
Genecology
Genealogy
Morphology and Pathogenesis of HLHS
Management of the Disease
Diagnosis of the HLHS
Prenatal Diagnosis
At Birth Diagnosis
Postnatal Diagnosis
Surgical Intervention
Prenatal Surgeries
Postnatal Surgeries
Stage-1: Palliative Treatment: Norwood Operation
Blalock Taussig Fistula
Right Ventricle to Pulmonary Artery Conduit
Reconstruction of the Aortic Arch
Tricuspid Regurgitation and Right Ventricular Dysfunction
Stage-2 Palliative Treatment: Glenn Procedure/Hemi-Fontan
Stage-3: Modified Fontan Procedure
Heart Transplant
Hybrid Procedure
Hybrid Interstage 1 Monitoring and Pharmacology
Further Reading for Surgical Intervention
References
Hypoplastic Right Heart Syndrome
Introduction
Etiology
Pathogenesis
Clinical Manifestation
Physical Examination
Diagnosis
Management
Surgical Management
Blalock-Taussig Shunt
Glenn Procedure
Fontan Procedure
Conclusion
References
Mitral Stenosis
Introduction
Epidemiology
Pathological Anatomy
Pathophysiology
Clinical Features
Mitral Valve Classification of the Stenosis Severity [15]
Physical Examination
General Inspection
Auscultation
Diagnosis
Transthoracic 2D Echocardiography
Chest X-Ray
Trans-Esophageal Echocardiogram (TEE)
Laboratory Test
Cardiac Catheterization
Prognosis
Complication
Treatment
Non-pharmacological Treatment
Medical Treatment
The Prevention of Rheumatic Fever
Surgical Treatment
Surgical Valvotomy and Valve Replacement
Balloon-Expandable Valve Implantation
References
Rhabdomyoma
Introduction
Epidemiology
Etiology
Molecular/Genetics
Pathologic Features
Gross Features
Microscopic Features
Clinical Features
Prognosis and Predictive Factors
Presentation
Radiological Features
Management
Complications
References
Transposition of the Great Artery
Introduction
Pathophysiology
Diagnosis
History
Physical Appearance
Arterial Pulse
Jugular Venous Pulse
Palpation
Auscultation
ECG
Imaging
X-Ray
Echo
Management
Initial Management
Surgery
Arterial Switch Procedure
Rastelli Procedure
Atrial Switch Procedure
Complication
Follow-up
References
Wolff–Parkinson–White Syndrome
Introduction
Epidemiology
Etiology
Pathophysiology
Clinical Appearance
Diagnosis
Differential Diagnosis
Management of a Patient with the WPW Syndrome
Acute Management of a Symptomatic Patient with the WPW Syndrome
Chronic Treatment to Prevent Recurrent Arrhythmias
Transcatheter Ablation (TCA)
Management of Asymptomatic Patients with the WPW Syndrome
Surgical Ablation and Perioperative Management
Sports Eligibility
Conclusion
References
Laparoscopic Surgery of Congenital Heart
Introduction
How Are Congenital Heart Defects Treated?
Patent Ductus Arteriosus Repair
Pulmonary Valve Stenosis Repair
Coarctation of Aorta Repair
Atrial Septal Defect (ASD) Repair
Ventricular Septal Defect (VSD) Repair
Tetralogy of Fallot Repair
Transposition of the Great Vessels Repair
Truncus Arteriosus Repair
Tricuspid Atresia Repair
Total Anomalous Pulmonary Venous Return (TAPVR) Correction
Hypoplastic Left Heart Repair
In Open-Heart Surgery the Surgeon May
Topics Related to Surgery
Robotically Assisted Heart Surgery: New Approaches to Minimally Invasive Heart Surgery
What Are the Benefits of Robotically Assisted Surgery?
References
Perfusion in Congenital Heart Surgery
Introduction
The Parts of the Cardiopulmonary Bypass Circuit
Pumping
Heater-Cooler System
Cannulae
Primers for Congenital Surgery
The Role of Heparin
Blood and Gas Management
Carbon Dioxide Management
pH and Blood Gas Management
References