Clinical Diagnosis of Congenital Heart Disease

1. Basic Embryology of Congenital Heart Diseases 3
ML Kulkarni, SN Rahiman
From Fertilization to Primitive Heart Tube Formation 3; From Primitive Heart Tube Through Looping 4;
From Looping to Wedging 5; Septation of the Atria 6; Development of AV Valves 8; Development of
Aortic and Pulmonary Trunks 8; Development of Aorta and its Branches 8
2. Fetal and Neonatal Circulation 11
BR Mishra, AK Samal
History 11; Fetal Circulation 11; Transitional Circulation 12; Control of Fetal and Transitional Circulation 13
3. Bedside Diagnosis and Classification of Congenital Heart Diseases 15
IB Vijayalakshmi, M Satpathy
Part I: General and Physical Examination 15; Part II: Clinical Presentation 21; Cyanosis 22; Congestive Heart
Failure 23; Part III: Bedside Approach for Diagnosis and Classification 24; Classification of Congenital
Heart Diseases 25; Common Congenital Heart 26; Common Clinical Observation 26
4. Electrocardiogram—Clinically Relevant to Congenital Heart Diseases 27
M Satpathy, ML Kulkarni
Electrical Axis Deviation 28
5. Radiological Diagnosis of Congenital Heart Diseases 33
K Sharada, M Satpathy
Situs and Cardiac Position 33; Skeletal Abnormalities 33; Is the Heart Enlarged? Are the Contours Normal? 34;
Which Chambers are Dilated? 35; Are the Pulmonary Arterial Markings—Increased, Decreased or Normal? 38;
Pulmonary Edema 41; Pulmonary Venous Hypertension 41; Pulmonary Arterial Hypertension 42
Part Two: Acyanotic Lesions
6. Clinical Approach to Diagnosis of Cardiac Malpositions 4
xvi Clinical Diagnosis of Congenital Heart Disease
9. Congenital Mitral Regurgitation 69
M Satpathy
Abnormal Anatomy 69; Clinical Features 69; Investigations 70; Diagnosis 71; Differential Diagnosis 71
Guideline for Management 72
10. Primary Endocardial Fibroelastosis 73
M Satpathy
Incidence 73; Classification 73; Etiology 73; Pathology 73; Hemodynamics 74; Clinical Features 74;
Signs 74; Investigations 74; Diagnosis 74; Differential Diagnosis 74; Complication 75; Prognosis 75;
Guidelines for Management 75
11. a. Atrial Septal Defect (Secundum Type) 76
PK Dash, M Satpathy
Classification 76; Definition 76; History 76; Embryology 76; Incidence 77; Types of ASD Secundum 77;
Hemodynamics 77; Clinical Features 78; Investigations 80; Diagnosis 82; Differential Diagnosis 82;
Complications 83; Natural History 83; Guideline for Management 83; Complicated Atrial Septal Defect 84
b. Atrial Septal Defect (Primum Type) 85
Sunita Maheshwari
Synonyms 85; Definition 85; Embryology 85; Incidence 85; Hemodynamics 85 Investigations 86;
Diagnosis 87; Different Diagnosis 87; Complications 88; Natural Course 88; Guidelines for
Management 88
c. Atrial Septal Defect (Sinus Venosus Type) 89
Sunita Maheshwari, M Satpathy
Synonym 89; Definition 89; Classification 89; Guidelines for Management 91
d. Atrial Septal Defect (Coronary Sinus Type) 91
Sunita Maheshwari, M Satpathy
Guidelines for Management 92
12. Atrial Septal Defect with Associated Common Anomalies 93
M Satpathy
Lutembacher’s Syndrome 93; Salient Features 96; Partial Anomalous Pulmonary Venous Connection 96;
Guidelines for Management 99
13. a. Ventricular Septal Defect 100
PR Gupta, M Satpathy
Definition 100; History 100; Incidence 100; Embryology 100; Abnormal Anatomy 100; Classification 101;
Hemodynamics 102; Clinical Features 103; Investigations 104; Diagnosis 107; Differential Diagnosis 107;
Complications 107; Natural History 107; Prognosis 108; Guidelines for Management 108
b. Ventricular Septal Defect with Aortic Regurgitation 109
BR Mishra
History 109; Incidence 109; Abnormal Anatomy 109; Hemodynamics 109; Clinical Features 110;
Signs 110; Investigations 110; Diagnosis 110; Differential Diagnosis 111; Complications 111;
Natural History 111; Guidelines for Management 111
c. Ventricular Septal Defect with Pulmonary Stenosis 112
M Satpathy
Abnormal Anatomy 112; Clinical Features 112; Investigations 112; Diagnosis 113;
Differential Diagnosis 113; Guidelines for Management 113
Contents xvii
d. Left Ventricle to Right Atrial Communication 114
M Satpathy
Synonym 114; Definition 114; Classification 114; History 114; Incidence 114; Hemodynamics 115;
Clinical Features 115; Investigations 115; Diagnosis 115; Differential Diagnosis 115;
Guidelines for Management 115
14. Patent Ductus Arteriosus 116
M Satpathy, J Jayarajah
Definition 116; History 116; Incidence 116; Embryology 117; Abnormal Anatomy 117; Mechanism of
Ductal Closure 117; Classification of Patent Ductus Arteriosus 117; Clinical Features 118; Investigation 120;
Diagnosis 122; Differential Diagnosis 122; Complications 123; Lesions Associated with Ductus 123;
Prognosis 123; Guidelines for Management 123
15. Aortopulmonary Window 125
CG Bahuleyan, M Shifas Babu
Synonyms 125; Definition 125; History 125; Incidence 125; Embryology 125; Anatomical Abnormalities 126;
Common Anomalies Associated with AP Windows 126; Classification 126; Hemodynamics 126; Clinical
Features 126; Investigations 127; Diagnosis 128; Complications 129; Natural History and Prognosis 129;
Guidelines for Management 129
16. Complete Atrioventricular Septal Defect 130
R Juneja, S Shah
Incidence 130; Embryology 130; Pathology 131; Physiology 134; Investigations 136; Diagnosis 139;
Complications 140; Natural History 140; Prognosis 140; Guidelines for Management 140
17. a. Congenital Aortic Stenosis 142
S Guha, M Satpathy
Definition 142; Valvular Aortic Stenosis 142; Critical Aortic Stenosis 148; Salient Features 149; Guidelines
for Management 150; Supravalvular Aortic Stenosis 150; Salient Features 153; Subvalvular Aortic
Stenosis (SAS) 153
b. Congenital Aortic Regurgitation 155
M Satpathy
Etiology 155; Abnormal Anatomy 156; Hemodynamics 156; Clinical Features 156; Investigations 156;
Diagnosis 157; Differential Diagnosis 157; Guidelines for Management 157; Aortic Left Ventricular
Tunnel 157; Clinical Features 158; Investigations 158; Differential Diagnosis 158; Guidelines for
Management 158
18. Coarctation of the Aorta 159
N Sudhayakumar, BSJ Nair, M Satpathy
Definition 159; History 159; Incidence 159; Embryology 160; Classification and Types of Coarctation
of Aorta 160; Hemodynamics 161; Clinical Features 162; Collaterals in Coarctation 162; Investigations 164;
Diagnosis 166; Differential Diagnosis 166; Complications 166; Prognosis 166; Guideline of Management 167
19. Aneurysms of Sinuses of Valsalva 168
J Yusuf, HN Mohan Kumar, UA Kaul
Definition 168; History 168; Incidence 168; Embryology 168; Etiology 168; Classification 169;
Sites of Rupture of Sinus of Valsalva 170; Pathology 170; Hemodynamics 170; Clinical Features 171;
Investigations 171; Differential Diagnosis 173; Complications 174; Natural History and Prognosis 174;
Guidelines for Management 175
xviii Clinical Diagnosis of Congenital Heart Disease
20. a. Congenital Coronary Artery Anomalies 176
BR Mishra
Normal Coronary Arteries 176; Embryology 176; Anatomy 176; Classification of Coronary
Anomalies 178; Coronary Anomalies Associated with Specific Congenital Heart Diseases 178
b. Congenital Coronary Arterial Fistula 180
CG Bahuleyan, BR Mishra
History 180; Incidence 180; Embryology 181; Anatomical Abnormalities 181;
Hemodynamic Abnormality 181; Clinical Features 181; Investigations 182; Diagnosis 183;
Differential Diagnosis 183; Complications 183; Natural History and Prognosis 183;
Guidelines for Management 184
c. Anomalous Left Main Coronary Artery from the Pulmonary Artery 184
Naveen Garg, BR Mishra
Synonym 184; Definition 184; History 184; Incidence 184; Embryology 185; Anatomical Abnormalities 185;
Hemodynamics 185; Clinical Features 185; Investigations 186; Diagnosis 188; Differential Diagnosis 188;
Complications 188; Natural History 188; Guidelines for Management 188
21. Aortic Arch Anomalies and Vascular Rings 190
BR Mishra, M Satpathy
History 190; Sidedness or Laterality of Aortic Arch 190; Classifications 190; Clinical Features 191; Investigations 191;
Left Aortic Arch 191; Right Aortic Arch 192; Double Aortic Arch 194; Cervical Aortic Arch 194; Other Rare Aortic Arch
Anomalies 195; Anomalies of Pulmonary Artery 195; Guidelines for Management 196
22. a. Congenital Pulmonary Stenosis 197
N Desai, Sunil Kumar, Arun Srinivas, HP Guruprasad
Synonyms 197; Definition 197; History 197; Etiology 197; Embryology 197; Prevalence 198;
Abnormal Anatomy 198; Classification 198; Hemodynamics 199; Valvular Pulmonary Stenosis 199;
Complications 203; Dysplastic Pulmonary Valve 204; Infundibular Pulmonary Stenosis 204;
Double-Chambered Right Ventricle 204; Guidelines for Management 206
b. Congenital Pulmonary Regurgitation 207
N Desai, Sunil Kumar, Arun Srinivas, HP Guruprasad
Introduction 207; Etiology and Incidence 207; Incidence 207; Abnormal Anatomy 207;
Hemodynamics 208; Clinical Presentation 208; Investigations 208; Complications 211;
Natural History and Prognosis 211; Guidelines for Management 211
c. Idiopathic Dilatation of Pulmonary Trunk 211
BR Mishra
Definition 211; Synonyms 213
d. Peripheral Pulmonary Artery Stenosis 213
BR Mishra
Definition 213; History 213; Embryology 213; Peripheral Pulmonary Artery Stenosis 213;
Incidence 214; Pathology 214; Classification of Peripheral Pulmonary Artery Stenosis 214;
Hemodynamics 214; Clinical Features 214; Investigations 215; Guidelines for Management 216
23. Congenitally Corrected Transposition of Great Arteries 217
Rohit Manojkumar, BR Mishra
History 217; Prevalence 217; Embryology 218; Pathophysiology 218; Associated Defects 218;
Clinical Features 219; Investigations 219; MRI 220; Diagnosis 220; Complications 222;
Natural History 222; Guidelines for Management 222
Contents xix
Part Three: Cyanotic Lesions
24. Common Atrium 227
M Satpathy
Synonyms 227; Definition 227; Embryology 227; Incidence 227; Abnormal Anatomy 227;
Hemodynamics 227; Clinical Features 228; Investigations 228; Cardiac Catheterization and
Angiography 229; Diagnosis 229; Differential Diagnosis 229; Guidelines for Management 230
25. Tricuspid Atresia 231
SR Mittal, M Satpathy
Definition 231; History 231; Incidence 231; Embryology 231; Classification 231; Pathology 232;
Hemodynamics 233; Clinical Manifestations 234; Investigations 236; Differential Diagnosis 239;
Complications 239; Natural History 239; Guidelines for Management 240
26. Ebstein’s Anomaly 242
M Satpathy, AK Bhattacharyya
Definition 242; History 242; Incidence 242; Embryology 242; Abnormal Anatomy 242; Classification 243;
Hemodynamics 243; Clinical Features 244; Investigations 245; Diagnosis 248; Differential Diagnosis 248;
Complications 248; Natural History and Prognosis 248; Guidelines for Management 249; Salient Features 249;
Uhl’s Anomaly 249
27. Pulmonary Atresia with Intact Ventricular Septum 251
V Gouthami, BR Mishra
Definition 251; History 251; Incidence 251; Embryology 252; Anatomical Abnormalities 252;
Classification 252; Pathophysiology 254; Hemodynamics 254; Clinical Features 254; Investigation 255;
Diagnosis 257; Differential Diagnosis 257; Complications 257; Natural History and Prognosis 258;
Guidelines for Management 258
28. a. Tetralogy of Fallot 259
PK Pati, M Satpathy
Definition 259; History 259; Prevalence 259; Genetic Factor 260; Embryology 260;
Abnormal Anatomy 260; Other Abnormal Anatomical Features 261; Hemodynamics 261;
Clinical Features 262; Investigations 264; Diagnosis 267; Guidelines for Management 268
b. Absent Pulmonary Valve Syndrome 269
BR Mishra
History 269; Incidence 269; Embryology 269; Associated Lesion 269; Abnormal Anatomy 269;
Clinical Features 270; Investigations 270; Diagnosis 270; Differential Diagnosis 271;
Natural History 271; Guidelines for Management 271
c. Pulmonary Stenosis with Interatrial Septal Defect 272
M Satpathy
Hemodynamics 272; Clinical Features 272; Investigations 273; Differential Diagnosis 275;
Guidelines for Management 275
29. Pulmonary Atresia with Ventricular Septal Defect 276
V Gouthami, M Satpathy
Prevalence 276; Embryology 276; Abnormal Anatomy 277; Classification 278; Pathophysiology 279;
Clinical Features 279; Investigations 279; Diagnosis 280; Differential Diagnosis 281; Complications 282;
Natural History and Prognosis 282; Guidelines for Management 282; Management of Sick Infants 282
xx Clinical Diagnosis of Congenital Heart Disease
30. Double Outlet Right Ventricle 285
AN Patnaik
Definition 285; “Tetralogy of Fallot” Like Presentation 287; Taussig-Bing Anomaly Presentation 289;
Nonrestrictive VSD Like Presentation 290
31. Single Ventricle 294
AN Patnaik
Synonyms 294; Definition 294; History 294; Incidence 294; Embryology 294; Anatomical Abnormalities/
Classification 295; Hemodynamics 296; Clinical Features 296; Investigations 297; Diagnosis 299;
Differential Diagnosis 300; Complications 300; Natural History and Prognosis 300; Guidelines for
Management 300
32. Truncus Arteriosus 301
Anita Saxena
Synonyms 301; Definition 301; History 301; Embryology 301; Etiology 301; Incidence 301;
Classification 301; Pathology 303; Hemodynamics 303; Clinical Features 303; Investigations 304;
Diagnosis 306; Differential Diagnosis 306; Complications 306; Natural History 306; Guidelines for
Management 307
33. Complete Transposition of the Great Arteries 308
Rohit Manojkumar, M Satpathy
History 308; Incidence 308; Embryology 309; Pathophysiology 309; Coronary Arteries 309;
Associated Lesions 309; Physiology 310; Clinical Features 311; Physical Examination 311;
Investigations 311; Diagnosis 314; Differential Diagnosis 314; Natural History 314; Guidelines
for Management 315
34. Hypoplastic Left Heart Syndrome 317
N Sudhayakumar, G Rajesh, BR Mishra
History 317; Incidence 317; Noncardiac Anomalies 317; Embryology 317; Abnormal Anatomy 318;
Coronaries in HLHS 319; Hemodynamics of HLHS 319; Clinical Features 319; Investigations 320;
Diagnosis 321; Differential Diagnosis 321; Natural History 322; Guidelines for Management 322
35. Total Anomalous Pulmonary Venous Connections 324
M Satpathy, CD Gupta
Synonym 324; Definition 324; History 324; Incidence 324; Embryology 324; Classification of TAPVC 324;
Hemodynamics 326; Clinical Features 326; Without Pulmonary Venous Obstruction and Low PVR 326;
Without Pulmonary Venous Obstruction and High PVR 327; With Pulmonary Venous Obstruction 327;
Investigations 327; Diagnosis 330; Differential Diagnosis 330; Complications 330; Natural History 330;
Guidelines for Management 330
36. Anomalous Systemic Venous Connections 332
BR Mishra
Classification 332; Embryology 332; Persistent Left Superior Vena Cava 333; Hemodynamics 333;
Clinical Features 333; Investigations 333; Left Superior Vena Cava Draining into Left Atrium 334;
Hemodynamics 334; Clinical Features 334; Investigations 334; IVC Interruption with Azygos
Continuation 335; Anomalous Connection of IVC to Left Atrium 336; Anomalies of Coronary Sinus 336;
Total Anomalous Systemic Venous Connection 337; Anomalies of Ductus Venosus 337; Anomalies of
the Valve of the Sinus Venosus 337
37. Congenital Pulmonary Arteriovenous Fistula 338
BR Mishra, SN Routray
Synonym 338; Definition 338; History 338; Incidence 338; Embryology 338; Pathology 339;
Hemodynamics 339; Clinical Features 339; Investigation 340; Cardiac Catheterization and
Angiocardiography 340; Diagnosis 341; Differential Diagnosis 341; Prognosis 341;
Complications 341; Guidelines for Management 341
Contents xxi
38. Complete Interruption of Aortic Arch 342
BR Mishra, M Satpathy
Definition 342; History 342; Incidence and Prevalence 342; Classification 342; Embryology 342;
Associated Lesions 344; Hemodynamics 344; Clinical Features 344; Investigations 344; Diagnosis 345;
Differential Diagnosis 345; Prognosis 345; Guidelines for Management 345
39. Eisenmenger Syndrome 347
M Satpathy, SR Anil
Causes 348; Incidence 348; Physiological Changes after Birth 348; Pathology 348; Heath–Edward
Classification of Pulmonary Vascular Obstructive Disease 349; Hemodynamics 349; Clinical Features 349;
Investigations 350; Diagnosis 352; Differential Diagnosis 352; Complications 353; Prognosis 353;
Guidelines of Management 354
Part Four: Miscellaneous
40. Fetal Echocardiography 359
BR Mishra, HN Mishra
Echocardiographic Anatomy and Physiology of Fetus 359; Assessment of Fetal Cardiac Function 362;
Diagnosis of Fetal Arrhythmia 362; Fetal Cardiac Interventions 362
41. Transcatheter Interventions in Congenital Heart Diseases 364
BRJ Kannan, BR Mishra
History 364; Interventions Involving Dilatations 364; Interventions Involving Occlusions 364;
Newer Interventions 365; General Principles of Transcatheter Interventions 365; Valvular Pulmonary
Stenosis 366; Valvular Aortic Stenosis 366; Coarctation of Aorta 367; Patent Ductus Arteriosus 367;
Atrial Septal Defect 368; Ventricular Septal Defect 369; Creation of Defect: Balloon Atrial Septostomy 369;
Uncommonly Performed and Newer Interventions 369
42. Congenital Heart Disease in India 370
Balu Vaidyanathan, M Satpathy
Prevalence of Congenital Heart Disease 370; CHD as a Contributor of Neonatal and Infant Mortality:
Global Perspective 371; Prevalence of CHD: Indian Scenario 371; CHD as a Contributor to Infant Mortality:
Indian Scenario 372; Current Status of CHD Treatment in India 372; Suggested Action Plan for CHD
Management in India 374
Index 377