Table 1.

Congenital Heart Lesions: Anatomy, Interventions, and Residual Disease

LesionAnatomy/Associated DefectsCommon InterventionsResidual Disease
Shunt lesions
Atrial septal defect (ASD)Anatomy
• Secundum ASD
• Primum ASD
• Sinus venosus ASD
Associated anomalies
• Anomalous pulmonary venous return
• Ventricular septal defect
Primary intervention(s)
• ASD closure (surgical vs transcatheter)
Additional procedures
• Surgical techniques for correcting partial anomalous pulmonary venous connections vary according to the site of connection and the location of the atrial septal defect
Right atriotomy scar
Residual ASD
Intra-atrial baffle stenosis
RV dilation/dysfunction
Tricuspid regurgitation
Pulmonary hypertension
Device-related complications after transcatheter ASD closure include inferior vena cava/coronary sinus obstruction, device migration/embolization, thrombus formation, erosion, and perforation
Ventricular septal defect (VSD)Anatomy
• Perimembranous VSD
• Inlet VSD
• Muscular
• Subarterial/supracristal
Associated anomalies
• Persistent left-sided superior vena cava
• Atrial septal defect
• PDA
• Bicuspid aortic valve
• Mitral and tricuspid valve abnormalities
• Coarctation of the aorta
Primary intervention(s)
• VSD closure (surgical, rarely transcatheter)
Ventriculotomy scar
Residual VSD
Subaortic stenosis
Double-chambered RV
Aortic valve regurgitation
Tricuspid valve regurgitation
LV dilation/dysfunction
Pulmonary hypertension
RV outflow tract obstruction
Complete AV septal defectAnatomy
• Ostium primum atrial septal defect and variable deficiency of the ventricular septum inflow with a common atrioventricular valve
Associated anomalies
• Anomalous pulmonary venous connections
• PDA
• LV outflow tract obstruction
• Coarctation of the aorta
• Tetralogy of Fallot
Primary intervention(s)
• ASD and VSD closure
Additional procedures
• Repair of AV valve abnormalities (most commonly closure of “cleft” in the left AV or mitral valve)
• Relief of LV outflow tract obstruction
Residual ASD or VSD
Left AV valve regurgitation or stenosis
LA dilation
LV dilation
LV systolic dysfunction
LV outflow tract obstruction
Pulmonary hypertension
Patent ductus arteriosus (PDA)Anatomy
• A patent arterial duct leading to persistent communication between the descending thoracic aorta and the pulmonary artery
Associated anomalies
• ASD
• VSD
• AV septal defect
Primary intervention(s)
• PDA closure (surgical vs transcatheter)
Residual PDA
Ductal aneurysm
LA/LV dilation
Pulmonary hypertension
Left heart obstruction
Subaortic stenosisAnatomy
• Discrete, fibrous, muscular, membranous, fibromuscular, and tunnel forms of obstruction in the left ventricular outflow tract
Associated anomalies
• Bicuspid aortic valve
• Congenital aortic valve stenosis
• VSD
• AV septal defect
• Coarctation of the aorta
• Ascending aorta and aortic arch hypoplasia
• Interrupted aortic arch
• Double-chambered RV
Primary intervention(s)
• Surgical approaches vary according to defect complexity and associated anomalies
• Surgical valvotomy or aortic valve replacement
• Subaortic membrane resection
• Konno procedure and LV outflow tract enlargement
Ventriculotomy scar
LV hypertrophy
LV fibrosis
LV systolic +/− diastolic dysfunction
Recurrent subaortic obstruction
Aortic valve stenosis/regurgitation
Congenital aortic valve stenosisAnatomy
• Congenital aortic stenosis may be because of annular hypoplasia, abnormalities in cusp and commissural number, cusp mobility or attachment. Bicuspid aortic valve is the most common abnormality
Associated anomalies
• Other left-sided obstructive lesions
• Aortic dilation
• Coarctation of the aorta
Primary intervention(s)
• Balloon valvuloplasty
• Surgical valvotomy
• Aortic valve replacement
Ventriculotomy scar
LV hypertrophy
LV fibrosis
LV systolic +/− diastolic dysfunction
Aortic dilation and dissection
Aortic valve stenosis/regurgitation
Supravalvar aortic stenosisAnatomy
• Narrowing of the aorta above the aortic valve
Associated anomalies
• Aortic valve leaflet thickening or adhesion
• Coronary artery abnormalities (ostial stenosis, obstruction, and dilation)
• Hypoplasia of the ascending aorta, aortic arch, head and neck vessels
• Peripheral pulmonary artery branch stenosis
• Williams–Beuren syndrome
Primary intervention(s)
• Aortoplasty
LV hypertrophy
LV dysfunction
Ostial coronary stenoses
Myocardial ischemia
Aortic valve stenosis/regurgitation
Coarctation of the aortaAnatomy
• Discrete narrowing of the aorta
Associated anomalies
• Bicuspid aortic valve
• VSD
• Subvalvar and valvar aortic stenosis
• Hypoplasia of the aorta
• Shone syndrome
• Aortic collaterals
• Also seen in complex CHD
Primary intervention(s)
• Relief of coarctation
• Surgical options include end-to-end anastomosis, subclavian flap aortoplasty, bypass conduit or patch plasty at the site of coarctation
• Balloon angioplasty and stent implant may be used in older children/adults as the primary intervention or for the treatment of recurrent coarctation
Additional procedures
• Aortic valve intervention
• VSD closure
Aortic recoarctation
Aortic aneurysm formation
Aortic dissection
Conduit stenosis/obstruction
LV hypertrophy
LV fibrosis
LV systolic +/− diastolic dysfunction
Coronary ischemia
Right heart obstruction
Double-chambered RV and subpulmonary stenosisAnatomy
• Commonly because of a discrete fibromuscular ring/obstruction or anomalous RV muscle bundles
Associated anomalies
• VSD
• Aneurysm of the ventricular septum
• Sinus of Valsalva aneurysm
• Accessory tricuspid valve tissue
Primary intervention(s)
• Relief of RV outflow tract obstruction via resection of RV muscle bundles
Additional procedures
• VSD repair is common
• Additional procedures vary according to associated defects
Infundibulotomy scar
Right atriotomy scar
Residual VSD shunt
Recurrent RV outflow tract obstruction
RV hypertrophy
RV fibrosis
RV systolic +/− diastolic dysfunction
LV outflow tract obstruction
Aortic regurgitation
Pulmonary valve stenosisAnatomy
• Dysplastic, stenotic pulmonary valve
Associated anomalies
• Commonly found in isolation
Primary intervention(s)
• Balloon pulmonary valvuloplasty
• Surgical valvotomy
Right atriotomy scar
Infundibulotomy scar
RV dilation
RV hypertrophy
RV systolic dysfunction
Pulmonary regurgitation
Tricuspid regurgitation
Supravalvar pulmonary stenosisAnatomy
• Most commonly because of a discrete ridge or a diffusely hypoplastic segment of the main pulmonary artery
Associated anomalies
• Branch pulmonary artery stenosis
• Syndromes: Williams, 22q microdeletion, Alagille, Keutel, and congenital rubella
Primary intervention(s)
• Balloon angioplasty +/− stenting
• Surgical relief of pulmonary artery stenoses
RV hypertension
RV hypertrophy
RV dilation
RV systolic dysfunction
Main or branch pulmonary artery stenosis
Complex CHD
Tetralogy of Fallot (TOF)Anatomy
• Ventricular septal defect
• RV outflow tract obstruction
• RV hypertrophy
• Aortic override
Associated anomalies
• ASD
• Tricuspid regurgitation
• Systemic to pulmonary artery collaterals
• Coronary anomalies
• AV septal defect
• Syndromes: 22q microdeletion
Palliation before definitive repair
• Shunts: Blalock-Taussig-Thomas or central
Definitive surgical repair
• VSD closure
• RV outflow tract muscle bundles resection
• +/− Patch enlargement of the RV outflow tract
• Pulmonary valve replacement
Right atriotomy scar
Infundibulotomy scar
Residual shunts (ASD or VSD)
RV hypertrophy
RV fibrosis
RV dilation
RV systolic +/− diastolic dysfunction
LV systolic +/− diastolic dysfunction
RV outflow tract dilation / aneurysm
RV outflow tract or conduit obstruction / stenosis
Tricuspid regurgitation
Main or branch pulmonary artery stenosis
Pulmonary regurgitation
Pulmonary hypertension
Associated anomalies
Dilated aortic root
Aortic regurgitation
Systemic to pulmonary collateral vessels
d-Transposition of the great arteries (d-TGA)Anatomy
• The RV gives rise to the aorta and the LV gives rise to the pulmonary artery (ventriculoarterial discordance) but both atria are appropriately connected to their respective ventricles (atrioventricular concordance)
Associated anomalies
• VSD
• LV outflow tract obstruction
• PDA
• Coronary anomalies
Palliation before definitive repair
• Atrial septostomy (commonly transcatheter)
Definitive surgical repair before 1980s
• Atrial switch via the Mustard or Senning procedure
Definitive surgical repair after 1980s
• Arterial switch via the Jatene procedure
d-TGA, atrial switch
ASD or VSD
Baffle stenoses or leaks
Systemic RV dilation
Systemic RV hypertrophy
Systemic RV fibrosis
Systemic RV systolic +/- diastolic dysfunction
Tricuspid (systemic AV valve) abnormalities
Subpulmonic LV outflow tract obstruction
Subpulmonic LV dilation (baffle leak, Pulmonary hypertension)
Subpulmonic LV systolic function
d-TGA, arterial switch
ASD or VSD
Neoaortic root dilation
Neoaortic valve regurgitation
Coronary ischemia
LV dilation
LV systolic dysfunction
Congenitally corrected transposition of the great arteries (ccTGA)Anatomy
• Atrioventricular and ventriculoarterial discordance. Blood flows from vena cavae to right atrium to LV to pulmonary artery to pulmonary veins to LA to RV to aorta
Associated anomalies
• VSD
• Systemic (tricuspid valve) anomalies
• Subpulmonic LV outflow tract obstruction
• Complete heart block
Surgical repair is not required in all patients. Surgical approaches vary according to defect complexity and associated anomaliesASD or VSD
Systemic RV dilation
Systemic RV hypertrophy
Systemic RV fibrosis
Systemic RV systolic dysfunction
Systemic RV ischemia
Tricuspid valve abnormalities & regurgitation
Aortic regurgitation
LV outflow tract obstruction (pulmonary stenosis)
Subpulmonic LV systolic function
Pulmonary hypertension
Ebstein anomalyAnatomy
• Adherence of the septal and posterior tricuspid valve leaflets to the underlying myocardium
• Redundancy, fenestrations and tethering of the anterior tricuspid valve leaflet
• Apical displacement of the functional annulus
• Dilation of the atrialized portion of the RV
• Dilation of the right atrioventricular junction
Associated anomalies
• ASD
• Patent foramen ovale
• Tricuspid valve regurgitation
• Pulmonary stenosis or atresia
• Wolf–Parkinson–White syndrome
Surgical repair is not required in all patients.
Surgical approaches vary according to associated anomalies & era of repair. May include tricuspid valve replacement vs tricuspid valve repair via Cone reconstruction.
Additional procedures
• ASD closure
Right atriotomy scar
Tricuspid regurgitation
RV dilation
RV dysfunction
LV systolic dysfunction
Single ventricle with Fontan palliationAnatomy
• Heterogeneous group of congenital heart defects that share the common feature of having only one ventricle capable of supporting the pulmonary and systemic circulation.
• Examples of predisposing anatomic defects include tricuspid atresia, hypoplastic left heart syndrome (HLHS), double-inlet LV, heterotaxy, and some forms of double-outlet RV
The Fontan operation directs systemic venous return into the pulmonary circulation, usually without an interposing RV. Fontan types include: atriopulmonary Fontan, lateral tunnel Fontan, and extracardiac FontanFontan fenestration
Fontan thrombus +/− obstruction
Pulmonary vein compression
Right atrial dilation (atriopulmonary and lateral tunnel Fontan)
AV valve regurgitation
Ventricular dilation
Ventricular systolic function
Outflow tract obstruction
Semilunar valve regurgitation
Aortic arch hypoplasia
Coarctation of the aorta
  • AV indicates atrioventricular; CHD, congenital heart disease; dTGA, d-transposition of the great arteries; HLHS, hypoplastic left heart syndrome; LA, left atrium; LV, left ventricle; PDA, patent ductus arteriosus; RV, right ventricle; VSD, ventricular septal defect.