Transition from paediatric to adult care
- Paediatric cardiologists should begin to inform patients and families regarding transition from around the age of 12, with a flexible policy of transition at age 14 to 16 years. Subsequent transfer to the adult service can again occur at a flexible age of approximately 18 years. Each paediatric cardiac unit should establish a coordinated process to link with a specialist centre for grown-ups with congenital heart disease.
- The patient and his or her family will have developed a firm bond with the paediatric cardiologist over many years, and it is desirable that the paediatric cardiologist is involved in the transition service, together with the adult specialist(s).
- The transition clinic requires input from administration and other healthcare professionals. The nurse specialist is a key person and should be experienced in counselling of adolescents and their families and should be responsible for coordinating transfer arrangements.
- The patient and his or her family should be given a detailed written plan in advance of handover. This should include key information about treatment in childhood (such as previous investigations and operations). It is part of an education process, which must be tailored to the varying levels of maturity and intellect of individual patients. The adolescent and his or her family need to understand their cardiac condition, healthcare needs, and prognosis. In particular, they should know about their medication, possible side effects and interaction with other drugs (including alcohol), and they should be fully informed about endocarditis prophylaxis. They also require guidance concerning exercise, contraception, pregnancy, career planning, travel, and insurance. They must be properly informed of possible future complications of their condition and likely associated symptoms. They must know how to operate within the adult healthcare system in order to obtain appropriate medical advice; both locally and when they are away from home (during studies, occupation, and travel). This process must be handled sensitively and cannot occur during a single consultation. The patient should be able to have private discussions, not only with the cardiologist, but also with the nurse specialist. Many children reach adolescence with little understanding of the implications of their condition, due to parental overprotection and lack of direct discussion. Parents often find it difficult to let go of their offspring and may need support to allow the adolescent to become independent. Time should be allocated to discuss sensitive issues such as contraception, family planning, pregnancy, recurrence risk, and sport.
- The carefully considered plan of medical management (including follow-up) should be based on the patient’s condition and prognosis, education and availability of local medical services. Unit protocols are very useful and the plan needs to be communicated to the primary care physician and other doctors involved (e.g. university healthcare services). Shared care with local physicians is appropriate for many patients. This is particularly important in special circumstances, such as noncardiac surgery or emergencies. Close liaison and good communication needs to be established at the transition stage.
- Transition of care should be a gradual process both for the patient and the medical practitioners. It is essential not to bombard the patient with an overwhelming amount of information, which can induce denial and lack of attendance. There should be continued opportunities for joint discussion between paediatric and adult specialists (both medical and surgical) and there should be feedback from both the transition and adult clinics to the paediatric cardiology team.
Training of practitioners in grown-up congenital heart disease
Required knowledge and skills
- Expertise of congenital heart malformations and management in infancy and childhood
- Expertise in general medicine and noncardiac diagnosis in adults
- Expertise in adult cardiology including coronary artery disease management
- Skill in the following procedures in adults with special reference to congenital heart disease:
- Echocardiography (including transoesophageal)
- Cardiac catheterization
- Pacing and electrophysiology
- Postoperative care
- Understanding of the physiological changes of pregnancy
- Understanding of the psychosocial aspects of adolescence
- Experience of life style counselling for adolescents and adults with congenital heart disease
- Expertise in clinical research methodology
Trainees from paediatric cardiology
- Three years in general paediatric cardiology
- 6 to 12 months in general medicine and adult cardiology
- At least 12 to 18 months in a specialist grown-up congenital heart disease centre
- For those aiming at an academic career in grown-up congenital heart disease, an additional year in research or specialist training is required.
Specific requirements for training (from pediatric cardiology) are familiarity with:
- Common adult cardiac problems, such as ischaemic heart disease, hypertension, arrhythmias and their treatment
- Coronary angiography (there is no need to learn coronary angioplasty)
- Recognition and management of arrhythmias related to operations for congenital heart disease
- Management of pacemakers and practical experience in their insertion. Management of implanted catheter defibrillators
- Management of middle-aged and elderly patients
- Problems of pregnancy in relation to cardiac problems, and effects of drugs on the patient and foetus
- Understanding the indications and contraindications of various methods of contraception
- Advice about exercise in various congenital heart abnormalities, both unoperated and operated, and what limitations, if any, apply
- Advice concerning driving of motor vehicles
- Information about life insurance and mortgages for patients with various unoperated and operated forms of congenital heart disease
- Vocational advice
Trainees from adult cardiology
- Three years in general cardiology including general medicine
- One year of paediatric cardiology in a centre with an active surgical and catheter intervention programme
- At least 12 to 18 months of training in a specialist grown-up congenital heart disease (GUCH) centre for those aiming at an academic career in grown-up congenital heart disease
- Additional year in research or specialist training is required.
Specific requirements for training (from adult cardiology) are:
- Foundation courses on congenital heart malformations and echocardiography
- Experience of echocardiography in infants and children, preoperatively and postoperatively. At least 250 echocardiographic examinations should be performed and an additional 25 transoesophageal echocardiograms.
- Experience of cardiac catheterization and angiography of common congenital heart anomalies. A minimum of 100 procedures should be performed independently.
- Familiarity with interventional procedures in congenital heart disease with participation in at least 25 procedures
- Involvement in management of and responsibility for at least 300 patients with congenital heart disease. These should include patients in the early postoperative period and those assessed during long-term follow-up.
- Attendance at weekly conferences of paediatric cardiologists and cardiac surgeons and participation in all of the teaching activities of the department
- Knowledge of genetic implications and familiarity with genetic counselling
- Understanding of psychosocial problems of adolescence, including schooling, bullying, and other behavioural issues, such as sex and drugs
- Vocational advice
- Problems of pregnancy in congenital heart disease
- Contraception advice for congenital heart disease
Specific surgical challenges
Preservation of myocardial function
- Aortic cross clamping should be avoided where possible. Most operations involving the right heart (e.g., replacement of right ventricle to pulmonary artery valved conduit or extracardiac Fontan procedure) can be carried out under normothermic cardiopulmonary bypass with mono- or bicaval cannulation and a beating heart.
- When aortic cross clamping is necessary, cross-clamp time should be kept as short as possible, and particular attention should be paid to cardioplegic myocardial preservation.
Strategies for myocardial protection and cardioplegia
- Use of the appropriate cardioplegic solution
- Induction of myocardial hypothermia using a cold blood cardioplegic solution
- Maintenance of diastolic arrest and hypothermia using multi-dose blood cardioplegia. This is particularly important in cyanotic adults, in whom noncoronary collateral vessels to the heart may result in wash out of cardioplegia and myocardial rewarming.
- Enhanced warm blood reperfusion administered prior to aortic unclamping under careful pressure monitoring
- Adequate venting of the heart to avoid ventricular distention, wall tension increase, and subsequent inadequate delivery of cardioplegic solution
Atrial septal defect (ASD)
Introduction and background
- Common defect which may be diagnosed first in adult life
Survival/adult life
- Small defects: excellent prognosis
- Large defects: reduced survival, depending on age at treatment
Haemodynamic issues
- Pulmonary hypertension
- Right ventricle (RV) dilation/failure
- Potential for paradoxical embolism
- Reduced left ventricle (LV) compliance
Arrhythmia/pacing
- Atrial arrhythmia (atrial fibrillation and flutter)
- Sick sinus syndrome
- Pacing rarely required
Investigations
- Electrocardiography (ECG)
- Baseline: if clinically indicated (arrhythmias)
- Chest x-ray
- Baseline: otherwise little value
- Echocardiography (ECHO)/transoesophageal echocardiography (TOE)
- Baseline: location, size, RV size, pulmonary arterial (PA) pressure, Qp:Qs, associated lesions
- TOE usually performed in older patients and at device closure
- Catheterization
- Device closure
- Peripheral vascular resistance (PVR) assessment
- Magnetic resonance imaging (MRI)
- Holter monitor
- If symptomatic arrhythmia
- Exercise function
Indications for intervention
- Large defects (>10 mm) unless pulmonary vascular disease (peripheral vascular resistance >8 Um2; L-R shunt <1.5; no response to pulmonary vasodilators)
- Paradoxical embolism
Interventional options
- Surgery or device closure (stretched diameter <38 mm)
Posttreatment outcome
- Low risk procedure unless pulmonary vascular disease (PVD)
- Late intervention less successful
Endocarditis
- Very rare
- Prophylaxis not indicated
Pregnancy/contraception/recurrence/fetal
- No contraindications unless PVD
- No restrictions for contraception
- Consider fetal ECHO
Recurrence/genetics
- 3% of first degree relatives
- Familial ASD (with long PR interval)
- Autosomal dominant
Syndromes
- Holt Oram: upper limb deformity
- Autosomal dominant
Sport/physical activity
- No restrictions unless moderate/severe PVD
Insurance
- Category 1
- Generally no problem if defect closed early
Follow-up interval
- Early repair (<30 years): no problems; discharge
- Late repair: regular follow-up
Follow-up care
Unresolved issues
- Surgery vs. device closure
- When to close in pulmonary hypertension (PHT)
- Concomitant Maze procedure
- Upper age limit for surgery
- Patent foramen ovale closure in patients with suspected paradoxical embolism
Ventricular septal defect (VSD) – unrepaired
Introduction and background
- Significant ventricular septal defects usually repaired in childhood
- See ventricular septal defect and PVD (Eisenmenger) but diminishing
- Small ventricular septal defect or postoperative septal defect common in adults
- Eisenmenger patients becoming less frequent
Survival/adult life
- Excellent for small ventricular septal defect
- Large ventricular septal defect may have pulmonary vascular disease (Eisenmenger)
- May develop aortic regurgitation
Haemodynamic issues
- Left-right shunt
- LV dilatation and impaired function
- Aortic regurgitation
- Pulmonary vascular resistance in uncorrected large ventricular septal defect
Arrhythmia/pacing
Investigations
- Chest x-ray
- ECG
- Routine
- Rhythm chamber enlargement
- ECHO
- Number size and location of defects
- LV/RV function
- Aortic regurgitation
- TOE
- If transthoracic echocardiography (TTE) image inadequate
- Catheter
- Pulmonary vascular resistance
- Associated lesions
- MRI
- Holter monitor
- Exercise test
- Only if symptomatic
- Sports counseling
Indications for intervention
- Left-right shunt with left heart volume overload
- Reversible pulmonary hypertension
- Aortic regurgitation
- Associated abnormalities (RV outflow tract, subaortic stenosis)
- Previous endocarditis
Interventional options
- Surgery
- Catheter closure in muscular VSD(s)
Posttreatment outcome
Endocarditis
Pregnancy/contraception
- No contraindications in uncomplicated VSD
- Pregnancy contraindicated in pulmonary vascular disease (Eisenmenger disease)
Recurrence/genetics
- Occasionally familial
- Usual recurrence risk
- Common cardiac anomaly in syndromes (e.g., Down’s)
Sport/physical activity
- No restriction in small VSDs
Insurance
Follow-up interval
- Infrequent follow-up unless haemodynamic abnormalities (e.g., aortic regurgitation)
Follow-up care
- Small ventricular septal defect 3; pulmonary vascular disease (Eisenmenger) 2; aortic regurgitation/complicated haemodynamics 1
Unresolved issues
- Optimal management of Eisenmenger patients
Repaired ventricular septal defect
Introduction and background
- Common lesion
- Most patients now adults
Survival: adult life
- Excellent survival
- Occasional residual shunt
- Some develop RV or LV outflow tract obstruction
- Some develop aortic regurgitation
Haemodynamic issues
- Residual shunt
- Ventricular function
- Aortic regurgitation
- New haemodynamic abnormalities (RV outflow obstruction)
Arrhythmia/pacing
- Rare atrioventricular (AV) block, ventricular arrhythmia
Investigations
- Chest x-ray
- ECG
- Echo
- Residual VSD(s)
- LV/RV function
- Aortic regurgitation
- TOE if TTE insufficient
- TOE only if TTE inadequate
- Catheter
- MRI
- Holter monitor
- Stress test
- Only if symptomatic
- Sports counselling
Indications for intervention
- If residual VSD; see "unrepaired VSD"
Interventional options
Posttreatment outcome
Endocarditis
- Prophylaxis if residual VSD
- Questionable in closed VSD
Pregnancy/contraception
- No contraindications in uncomplicated closed VSD
- Pregnancy contraindicated in PVD (Eisenmenger)
Recurrence/genetics
Sport/physical activity
- No restriction in closed VSD
Insurance
Follow-up interval
- Can discharge if closed VSD without any residual abnormalities
- Infrequent follow-up for minor residual lesions
Follow-up care
- Eisenmenger 2; small VSD 3; aortic regurgitation/complicated haemodynamic 1
Unresolved issues
Postoperative complete atrioventricular septal defect (AVSD)
Survival/adult life
- Unoperated survivors develop PVD.
- Surgical results markedly improved
- Status after repair depends mostly on left AV valve function
- Many patients have Down’s syndrome
Hemodynamic issues
- Left AV-valve regurgitation (+ stenosis)
- PVD
- Late subaortic stenosis
Arrhythmia/pacing
- Risk of complete heart block low (<2%)
- Atrial arrhythmias, especially with left AV-valve dysfunction
Investigations
- Chest x-ray
- Cardiomegaly
- Pulmonary vascular markings
- Pulmonary vascular disease
- ECG
- Routine (left ventricular hypertrophy [LVH], right ventricular hypertrophy [RVH], cardiovascular hypertrophy [CVH])
- Superior QRS-axis
- Right bundle branch block
- Conductance disturbances
- ECHO/TOE
- Most useful investigation for
- Left AV valve morphology and function
- Ventricular function
- Residual lesions (shunt, subaortic stenosis)
- Catheter
- Rarely required unless reoperation considered
- MRI
- Holter monitor
- Only in symptomatic patients
- Exercise testing
- Additional investigations
- Significant left AV valve dysfunction
- Significant residual shunt
- Subaortic stenosis
Indications for reintervention
- Significant left AV-valve dysfunction
- Significant residual shunt
- Subaortic stenosis
- Progressive/symptomatic AV-Block
Interventional options
- Reoperation may require valve replacement
Posttreatment outcome
- Excellent long-term results unless
- Actuarial survival after 20 years >80%
- Left AV valve regurgitation (stenosis)
- Pulmonary vascular disease
- Late subaortic stenosis
Endocarditis
Pregnancy/contraception
- Pregnancy contraindicated in PVD (Eisenmenger)
- Anticoagulation management in patients with prosthetic valves
- Avoid oestrogen-containing pill in pulmonary hypertension
Recurrence/genetics/syndromes
- Above average recurrence risk Down’s syndrome in >50% of complete AVSD
- Approximately 10 to 14% congenital cardiac defects in mothers with AVSD
Physical activity/sports
- No restrictions if good repair and no significant arrhythmias
Insurance
- Category 2 if well repaired
Follow-up interval
- 1 to 2 yearly intervals with ECG and ECHO in stable cases
Follow-up care
- Level 2 unless significant haemodynamic problems
Unresolved issues
- Only limited data regarding long-term prognosis
Postoperative partial atrioventricular septal defect (p-AVSD)
Survival/adult life
- Similar to secundum atrial septal defect unless significant to left AV-valve regurgitation
- Unoperated p-AVSD have reduced life expectancy
- Pulmonary veno-occlusive disease (PVOD) may develop late
- Status after repair depends on left AV valve function
Hemodynamic issues
- Before repair
- Size of shunt
- Degree of AV valve regurgitation
- After repair
- Residual shunt and left AV valve regurgitation
- Subaortic stenosis
Arrhythmia/pacing
- Atrial arrhythmias rare unless left AV-valve regurgitation
- Complete heart block very rare
- Pacing rarely required unless sick sinus syndrome
Investigations
- ECG
- Superior-QRS axis
- Right bundle branch block
- Rhythm follow-up
- Chest x-ray
- ECHO/TOE
- Most useful investigation both for and after operation
- Left AV valve function
- Ventricular function
- Residual lesion
- Catheter
- Rarely required unless reoperation considered
- MRI
- Holter monitor
- Exercise testing
- Additional investigations
Indications for intervention
- All cases to be considered for intervention unless pulmonary vascular disease
- Reoperation for significant left AV-valve regurgitation
- Residual shunt or subaortic stenosis
- Progressive/symptomatic arrhythmias
Interventional options
- Surgery with valve repair or replacement
- Closure of re-/residual ASD
- Pacemaker in progressive/symptomatic complete block
Outcome
- Excellent long term provided left AV-valve repair satisfactory
Endocarditis
- Prophylaxis indicated if left AV-valve regurgitation is present
Pregnancy/contraception
- Well tolerated in repaired cases
- Contraindicated in rare cases with PVOD (Eisenmenger)
- Anticoagulation management in patients with prosthetic valves
- Avoid oestrogen-containing pill in pulmonary hypertension
Recurrence/genetics/syndromes
Physical activity/sports
- No restrictions if good repair and no significant arrhythmias
Insurance
Follow-up interval
- 2 yearly intervals with ECG and ECHO in stable cases
Follow-up care
- Unoperated level 1; postoperative level 2
Unresolved issues
- Long-term function of a nonreconstructed AV-valve is uncertain
Pulmonary stenosis (PS)
Survival/adult life
- Excellent if relieved effectively
- Poor if severe valve PS untreated
Haemodynamic issues
- PS severity
- Pulmonary regurgitation (PR) severity
- Leaflet dysplasia
- Right ventricular function
Arrhythmia/pacing
- Atrial arrhythmias in RV failure and tricuspid regurgitation
- Pacing not indicated
Investigations
- Chest x-ray
- Baseline; otherwise little value unless RV failure
- ECG
- ECHO/TOE
- Investigation of choice for right ventricular outflow tract (RVOT) gradient, pulmonary regurgitation RV size/function, tricuspid regurgitation
- Catheter
- Rarely needed except for balloon dilatation
- MRI
- Rarely needed
- Assess RV size/function and right atrial (RA) dilation in severe pulmonary regurgitation
- Holter monitor
- Exercise
- Additional investigations
Indications for intervention
- Valve gradient >30 mmHg at rest or for symptoms
Interventional options
- Balloon valvuloplasty almost always
- Surgery if valve calcified/dysplasty
Posttreatment outcome
- Excellent long-term results unless early failure
- Significant pulmonary regurgitation uncommon
Endocarditis
- Low risk. Prophylaxis may not be required in mild cases
Pregnancy/contraception/fetal
- Routine pregnancy unless moderate to severe PS or right to left shunt through ASD or patent foramen ovale (PFO)
Recurrence/genetics
Syndromes
- Noonan
- Congenital rubella
- Williams
- Alagille
Sport/physical activity
- Unrestricted unless severe
Insurance
- Category 1 after successful treatment or mild PS
Follow-up interval
- Can discharge if mild with ECHO. Every 1 to 3 years if more than mild, PR, or desaturation.
Follow-up care
- Mild PS: 3; excellent early result: 2; residual gradient or significant PR: 2
Unresolved issues
Tetralogy of Fallot – postoperative
Introduction and background
- Common lesion. Most Fallot patients are now adults.
Survival/adult life
- Survival rate after surgery excellent (normal in selected groups)
- Occasionally unoperated patients survive into adulthood.
Haemodynamic issues
- Pulmonary regurgitation/PS and RV function
- Tricuspid regurgitation
- Aortic regurgitation
- Residual lesions
Arrhythmia/pacing
- Late complete heart block rare
- Ventricular premature beats common in asymptomatic patients
- Symptomatic ventricular tachyarrhythmias (VT) rare
- Atrial arrhythmias common and relate to poor haemodynamics
- Small incidence of late sudden death
Investigations
- Chest x-ray
- Baseline and occasionally follow-up
- Cardiomegaly
- RV outflow
- ECG
- Routine
- Rhythm
- access/QRS width (usually complete right bundle branch block)
- ECHO/TOE
- Regularly for PR/RVOT/RV size function/tricuspid regurgitation
- Aortic regurgitation/LV function
- Catheter
- Preoperative for residual lesions, coronary anatomy intervention for dilatation/stent of pulmonary arteries
- Possibly in future for implantable pulmonary valve
- MRI
- May become investigation of choice for RV size function and pulmonary regurgitation
Holter monitor
- For symptoms and in poor haemodynamics
Exercise
- Exercise capacity, arrhythmias
Additional investigations
- Electrophysiological study for syncope, sustained arrhythmia (atrial or ventricular), radiofrequency ablation (RFA)
Indications for intervention
- Significant RVOT or PA branch stenosis
- Aortic regurgitation
- Residual VSD, significant pulmonary regurgitation (with symptoms and RV dilatation)
Interventional options
- Surgery, surgery with ablation, balloon dilatation/stenting, RFA catheter intervention for pulmonary valve insertion
Posttreatment outcome
- Most patients well
- RV function may not normalize after pulmonary valve replacement
- Arrhythmia may persist
- Risk of sudden death
Endocarditis
Pregnancy/contraception/fetal
- No contraindication to pregnancy in well repaired patients
- Monitor ventricular function and arrhythmia
- No additional fetal risk
Recurrence/genetics
- 1.5% for father, 2.5 to 4% for mother with Tetralogy of Fallot
- 16% of Fallot patients have deletion of chromosome 22q11; recurrence risk 50%.
Syndromes
Sport/physical activity
- No contraindication to sport unless documented arrhythmia
- Significant ventricular dysfunction
Insurance
Follow-up interval
- One/two yearly with ECG, ECHO + Holter, exercise test
Follow-up care
- 1 if documented residual abnormalities/arrhythmia, 2 otherwise
Unresolved issues
- Risk stratification for sudden death
- Indication for implantable defibrillator
- Timing of reoperation for pulmonary regurgitation
Conduits
Introduction and background
- Conduits used in repair of complex congenital heart disease
- Usually RV-PA (e.g. PA/VSD, Truncus, Tetralogy of Fallot, transposition of great artery/VSD/PS)
Survival/adult life
- All conduits in children deteriorate and require replacement (usually <10 years)
- Longevity of replacement unclear
Haemodynamic issues
- Stenosis of valve, subvalve, or anastomosis to PA
- Pulmonary regurgitation with RV volume overload
- LV-aortic pathway in complex repairs
Arrhythmia/pacing
- Ventricular arrhythmias, surgical heart-block
Investigations
- Chest x-ray
- Baseline and follow-up
- Conduit calcification
- Cardiomegaly
- ECG
- ECHO
- Investigation of choice for follow-up of RV
- Pressure gradient across conduit and pacing impulse
- LV aortic pathway
- ECHO may underestimate gradient.
- TOE
- Catheterization
- Evaluation for surgery
- Balloon dilatation or stenting
- MRI
- Very useful for investigation of conduit function
- May become investigation of choice
- Holter monitor
- Only if arrhythmia suspected
- Exercise function
- Not routine
- Useful for objective evaluation of exercise tolerance
Indications for intervention
- Significant symptoms or conduit obstruction
Interventional options
- Usually surgical replacement of conduits
- Occasionally balloon dilatation or stenting
Posttreatment outcome
- Fate of replaced conduit uncertain
- Need long-term follow-up
Endocarditis
Pregnancy/contraception
- Pregnancy tolerated if haemodynamics stable
- No contraception issues
Recurrence/genetics
- Usual recurrence rate for congenital heart disease
- Higher if 22q11 deletion
Syndromes
Sport/physical activity
- Avoid contact sports
- Otherwise no restrictions if haemodynamics good
Insurance
Follow-up interval
- Yearly with ECHO, ETT for ventricular function, arrhythmia surveillance (ECG, Holter if symptoms)
- Significant conduit dysfunction may be present in mildly symptomatic patients
Follow-up care
Unresolved issues
- Type of conduit (homograft versus xenograft)
- Role of balloon dilatation stenting
Aortic valve stenosis (unoperated)
Introduction and background
- Common, especially bicuspid aortic valve (1–2% of population)
- May occur with other lesions
Survival/adult life
- Normal if mild obstruction
Hemodynamic issues
- Degree of stenosis may progress
- Associated aortic regurgitation
- LV hypertrophy and function
Arrhythmia/pacing
- Ventricular tachyarrhythmias (VT) and ventricular fibrillation (VF) may occur during exertion with severe obstruction
Investigations
- ECG
- LVH and repolarization changes
- Chest x-ray
- ECHO
- Investigation of choice
- LV mass/function
- Aortic valve/size/morphology/area
- LV to aortic gradient
- Aortic regurgitation
- TOE
- Rarely of value except in endocarditis
- MRI
- Catheter
- Not for diagnosis
- For coronary angiography and balloon dilatation
- Exercise testing
- For repolarization changes and symptoms
- Surgical decision making
Indications for intervention
- Symptoms: severe LV pressure overload
- Severe aortic stenosis
Interventional options
- Balloon valvuloplasty if valve uncalcified
- Rarely good option in adult
- Mechanical valve replacement, homograft, or Ross procedure depending on patient's age, sex, preferences, and local expertise
Outcome
- Recurrence common late after valvotomy
- Very good in uncomplicated cases of valve replacement.
Endocarditis
- Prophylaxis indicated in all
Pregnancy/contraception
- Low risk in asymptomatic patents even with moderate obstruction
- High risk in patients with severe obstruction
- Transcatheter intervention may be indicated in unplanned pregnancy
Recurrence/genetics/syndromes
- Bicuspid valve may be familial
- Association with coarctation
- Recurrence rate may be higher in syndromes.
Physical activity/sports
- No competitive sports if obstruction is moderate or severe
Insurance
Follow-up interval
- Depends on severity and progression rate ECG/ECHO + exercise test
Follow-up care
Unresolved issues
- Late outcome after the Ross operation
Postoperative valvar aortic stenosis
Introduction and background
- Common lesion
- Most interventions in children are balloon dilation or open aortic valvotomy; aortic valve replacement, mechanical or biological prostheses, or Ross procedure may have been performed.
Survival — adult life
Hemodynamic issues
- Obstruction
- Regurgitation
- LV function
- Pulmonary homograft (Ross)
Arrhythmia/pacing
- Arrhythmia rare
- More common in left ventricular hypertrophy (LVH)
- May cause sudden death
Investigations
- ECG
- Routine LVH
- Conduction disturbances
- Repolarization changes
- Chest x-ray
- ECHO
- See "Aortic valve stenosis (unoperated)"
- Prosthesis function and paravalvular leak
- TOE
- Useful in assessment of paravalvular leaks and suspected endocarditis
- MRI
- Catheter
- Rarely indicated (see "Aortic valve stenosis [unoperated]")
- Exercise testing
- Surgical decision making for timing of reintervention
Indications for reintervention
- Recurrent obstruction (native valve or prosthesis)
- Regurgitation
- Occasionally haemolysis
Interventional options
- Mechanical valve, homograft, or Ross operation
- Prosthesis may be preferred by elderly.
- Homograft may be preferred in endocarditis.
Outcome
- Very good but anticoagulant problems with mechanical valve and late failure
Endocarditis
Pregnancy/contraception
- Anticoagulants may cause embryopathy.
Recurrence/genetics/syndromes
- See "Aortic valve stenosis (unoperated)"
Physical activity/sports
- High-level activity possible in uncomplicated cases with good LV function
- Contact contraindicated in patients on anticoagulants
Insurance
Follow-up interval
Follow-up care
Unresolved issues
- Long-term outcome of Ross procedure
- Best anticoagulation protocol in pregnancy
Subaortic stenosis unoperated
Introduction and background
- Uncommon form of obstruction
- May be discrete or extend to adjacent structures
- Often progressive.
Survival/adult life
- Normal if obstruction not severe
Hemodynamic issues
- Progression very common
- May cause aortic regurgitation
- Associated lesions common (e.g., VSD)
Arrhythmia/pacing
- See "Aortic valve stenosis"
Investigations
- Chest x-ray
- ECG
- Routine LVH and repolarization changes
- ECHO
- Investigation of choice
- Visualise obstruction
- Gradient across LV outflow tract
- LV mass/function
- Aortic regurgitation
- TOE
- May be useful to define anatomy
- MRI
- Catheter
- Rarely indicated (see "Aortic valve stenosis")
- Exercise test
- For repolarization changes and symptoms
Indications for intervention
- Progressive obstruction
- Lower threshold and aortic valve stenosis
- Aortic regurgitation
Interventional options
Outcome
Endocarditis
Pregnancy/contraception
- Low risk if no severe obstruction
Recurrence/genetics/syndromes
- May occur left heart abnormalities (e.g., coarctation, Shone’s syndrome)
- Familial cases described
Physical activity/sports
- No restriction if mild obstruction or after resection
Insurance
Follow-up interval
- Depends on severity and progression rate; usually 1 to 2 yearly
Follow-up care
Unresolved issues
- Recurrence rate after resection
- Optimal timing of surgery
Unoperated coarctation
Introduction and background
- May present in infancy or later in adolescence
Survival/adult life
- Rarely undiagnosed in childhood, but long-term survival is possible
Haemodynamic issues
- Hypertension
- Premature atherosclerosis
- LV hypertrophy/failure
- Aortic dissection
- Associated aortic/mitral valve (MV) lesions
Arrhythmia/pacing
Investigations
- ECG
- LVH repolarization changes
- Chest x-ray
- Cardiomegaly
- Ascending aorta dilation
- Rib notching
- ECHO
- Assessment of arch anatomy/gradient
- Associated lesions LVH and function
- TOE
- Rarely provides additional information
- MRI
- Holter monitor
- Not indicated unless for ambulatory blood pressure
- Exercise test
- Hypertension on exercise
- Arm/leg gradient
- Inducible repolarization abnormalities
- Catheterization
- If MRI unavailable for arch anatomy
- For coronary angiography when indicated for intervention
- Additional
- Screen for intracerebral vascular anomalies
Indications for intervention
- Resting or exercise induced hypertension
- Resting gradient >30 mmHg
Interventional options
- Balloon/stenting
- Surgical repair
Posttreatment outcome
- Residual hypertension common despite adequate relief of obstruction
- Accelerated atherosclerosis
- Reduced life expectancy
Endocarditis
Pregnancy/contraception/recurrence/fetal
- Repair prior to pregnancy if possible
- Transcatheter intervention may be indicated in unplanned pregnancy (worsening blood pressure [BP], LV failure)
- Avoid oestrogen containing pill
- Growth retardation common
- Spontaneous foetal loss increased
Recurrence/genetics
- Recurrence may be familial
- 22q11 deletion in complex forms
Syndromes
- Turner’s (present in approx 30%)
- Williams’ (present in approx 10%)
- Shone’s (associated LV inflow/outflow abnormalities)
Sport/physical activity
- Should be restricted prior to repair
Insurance
- Category 3 for significant unoperated coarctation
Follow-up interval
- Most patients referred for intervention on diagnosis
- 1 yearly of mild cases with BP at rest and exercise/ECHO/Doppler/MRI
Follow-up care
Unresolved issues
- Influence of age at operation on long-term outcome
- Influence of drugs on vascular phenotype in successful cases
- Role of intervention for mild gradients
- Role of stenting as adjunct to balloon
Operated coarctation
Survival/adult life
- Long-term survival still reduced despite adequate early repair
Haemodynamic issues
- Persistent and late developing hypertension at rest and exercise
- Aortic valve dysfunction
- Rare dissection
Arrhythmia/pacing
Investigations
- ECG
- LVH + repolarization changes
- Chest x-ray
- Cardiomegaly
- Ascending aorta dilation
- Rib notching
- ECHO
- Assessment of arch anatomy/gradient
- Associated lesions LVH and function
- TOE
- Rarely provides additional information
- MRI
- Holter monitor
- Not indicated unless for ambulatory blood pressure
- Exercise test
- Hypertension on exercise
- Arm/leg gradient
- Inducible repolarization abnormalities
- Catheterization
- If MRI unavailable for arch anatomy
- For coronary angiography when indicated for intervention
- Additional
- Screen for intracerebral vascular anomalies advocated by some
Indications for intervention
- Significant recoarctation (gradient >30 mmHg at rest)
- Aortic aneurysm
Interventional options
- Balloon/stenting for anatomically suitable recoarctation
- Surgery for complex situations + aneurysms
Posttreatment outcome
- Excellent but late hypertension and premature atherosclerosis/cerebrovascular accident/myocardial infarction/heart failure
Endocarditis
Pregnancy/contraception/recurrence/fetal
- Relieve residual coarctation prior to pregnancy or during unplanned pregnancy
- Monitor closely for hypertension
- Avoid oestrogen-containing pill if rest or exercise hypertension
Recurrence/genetics
None stated
Syndromes
None stated
Sport/physical activity
- No restrictions if adequate relief of obstruction/no residual hypertension
Insurance
Follow-up interval
- Yearly with same investigations as for unoperated coarctation
Follow-up care
Unresolved issues
- Influence of age at repair, type of repair of intervention on late hypertension
- Late outcome of balloon/stenting
- Pathophysiology of late hypertension
Patent arterial duct
Survival/adult life
- Normal life expectancy in closed patent ductus arteriosus (PDA)
- Rare PVD for large PDA
Haemodynamic issues
- Usually none — LV dilatation/pulmonary hypertension in significant PDA
Arrhythmia/pacing
Investigations
- Chest x-ray
- Baseline
- Cardiomegaly
- Ductal calcification
- ECG
- Usually normal
- LVH with large PDA
- ECHO/TOE
- Usually diagnostic
- TOE rarely indicated
- Catheter
- For closure coronary angiography in older patients
- MRI
- Holter monitor
- Exercise
- Additional investigations
Indications for intervention
- Controversial for silent of very small PDA
- Continuous murmur
- LV dilatation
Interventional options
- Catheter closure intervention of choice
- Several device options
- Surgery for rare cases
Posttreatment outcome
- Excellent
- Residual shunt in up to 10%
Endocarditis
- Not required after complete closure
- Prophylaxis indicated otherwise
Pregnancy/contraception/fetal
- No problems unless pulmonary vascular disease
Recurrence/genetics
Syndromes
Sport/physical activity
- No restrictions unless PVD
Insurance
- Category 1 for small PDA or after closure
Follow-up interval
- Discharge 1 year after closure
Follow-up care
Unresolved issues
- Indication of closure for small PDA
Ebstein’s anomaly
Introduction and background
- Wide spectrum of pathologic anatomy which determines onset of severity of symptoms
Survival/adult life
- Extremely variable natural history
- Infant survivors usually reach
Haemodynamic issues
- Cyanosis at rest and/or exercise (right-left shunt at atrial level), reduced exercise capacity
- Congestive heart failure (tricuspid stenosis/regurgitation/small RV)
- Associated lesions
- LV abnormalities
Arrhythmia/pacing
- Atrial arrhythmias are common.
- Increase with age
- Related to pre-exultation and atrial dilatation
- Risk of sudden death
Investigations
- Chest x-ray
- Marked cardiomegaly
- Right atrial enlargement
- ECG
- Baseline (characteristic pattern)
- Follow-up for rhythm
- ECHO/TOE
- Severity of tricuspid valve displacement dysplasia and regurgitation
- RV size
- Associated lesions
- LV function
- Catheter
- Rarely required unless for coronary angiography in older patients or at electrophysiologic studies (EPS)
- MRI
- Holter monitor
- Useful for arrhythmia monitoring
- Exercise
- Baseline and follow-up
- Cyanosis
- Exercise tolerance
- Arrhythmia
- Additional investigations
- Electrophysiologic studies (EPS) for arrhythmia diagnosis and RFA
Indications for intervention
- Decrease in exercise tolerance
- Heart failure
- Increase in cyanosis
- Arrhythmia
Interventional options
- Surgery for tricuspid valve repair or replacement
- RFA for arrhythmias/preexultation
Posttreatment outcome
- Symptomatic improvement usual
- Tricuspid valve replacement: reoperation, thrombotic complications
- Ongoing arrhythmia problems frequent
- Risk of sudden death remains
- Anticoagulants for atrial arrhythmia and prosthetic tricuspid valve
Endocarditis
Pregnancy/contraception/fetal
- Well tolerated unless cyanosis or heart failure
- Foetus at risk in cyanosed mother
Recurrence/genetics
- 6% in affected mother; 1% in affected father. Familiar occurrence documented.
Syndromes
Sport/physical activity
- Recreational sport in asymptomatic patient
Insurance
- Unoperated asymptomatic or well postoperative category 2
Follow-up interval
- Depends on clinical status
- Annual follow-up with ECHO/Holter exercise test
Follow-up care
- Level 1 (operated and unoperated)
Unresolved issues
- Recurrence of arrhythmias
- Long-term fate of repairs
Fontan
Introduction and background
- Palliative procedure for single ventricle physiology in which all systemic venous return directed to the lungs; multiple modifications
Survival/adult life
- Improved survival with strict selection criteria
- Late failure even in best cases
Haemodynamic issues
- Function of systemic ventricle (preload deproved)
- Pulmonary vascular resistance
- Obstruction in Fontan connection
- Atrial enlargement
- Pulmonary venous obstruction
- AV valve regurgitation
- Chronic venous hypertension
- Desaturation/paradoxical embolus in fenestrated Fontan
- Pulmonary arteriovenous malformations in some
Arrhythmia/pacing
- Atrial arrhythmias common
- Increase with follow-up
- Sinus node dysfunction
- Pacing: ventricular pacing requires epicardial system
Investigations
- Chest x-ray
- Baseline and follow-up
- Cardiomegaly
- Pulmonary vascular markings
- ECG
- ECHO/TOE
- Most useful investigation for
- ventricular function
- AV valve regurgitation
- Residual shunts
- Obstruction of Fontan connections
- Thrombus in atrium
- Routine TOE (2 yearly may be indicated or if arrhythmia present)
Catheter
- For haemodynamic assessment and angiography in clinical deterioration
MRI
- Obstruction of Fontan connection
- Occasionally useful for RA size and anastamieos
Holter monitor
- Routine and for symptomatic arrhythmia
Exercise testing
Additional investigations:
- Blood/stool for protein-losing enteropathy (PLE)
Indications for intervention
- Cyanosis
- Obstruction to Fontan connection
- Systemic AV valve regurgitation
- Ventricular failure
- Arrhythmia
- Pulmonary venous obstruction
Interventional options
- Consider conversion to total cavopulmonary connection (TCPC) or transplant in failing Fontan
- Closure of fenestration
- AV malformations
- RFA
- Supraventricular arrhythmia
- AV sequential pacing
Posttreatment outcome
- Variable success with catheter ablation of atrial arrhythmias
- PLE has <50% 5-year survival
- Fontan conversion results unclear; atrial arrhythmias common.
Endocarditis
Pregnancy/contraception/fetal
- Pregnancy possible with perfectly selected patients and proper care
- High maternal risk in "failing Fontan"
- Higher miscarriage rate
- Foetal risk of congenital heart disease (CHD) may be higher
- Avoid oestrogen pill if ejection fraction <40%, residual shunt, or spontaneous contrast in RA
- Angiotensin-converting enzyme (ACE) inhibitors should be withdrawn if on anticoagulants: need meticulous management
Recurrence/genetics
Syndromes
Sport/physical activity
Insurance
Follow-up interval
- At least yearly review with ECHO, ECG, Holter, exercise testing, blood testing
Follow-up care
Unresolved issues
- Indications for and results of Fontan conversion
- Outcome of TCPC in modern era
- Role of anticoagulation
- Medical therapy for failing systemic ventricle
- Role of ACE inhibitors
Marfan’s syndrome
Introduction and background
- Abnormal fibrillin gene on chromosome 15q
- Autosomal dominant inheritance
- Cardiac defect largely determined outcome
Survival/adult life
- Death from cardiac problems
- Life expectancy reduced but improved by good cardiac follow-up and surgery
Haemodynamic issues
- Acute aortic dissection; risk higher if the aortic sinuses >55 mm
- Aortic regurgitation
- MV prolapse/regurgitation
Arrhythmia/pacing
- Atrial and ventricular arrhythmia in MV prolapse/regurgitation
Investigations
- Chest x-ray
- Not helpful for follow-up of aorta
- ECG
- ECHO/TOE
- Most valuable investigation for serial follow-up of aortic root dimensions and valve function (aortic and mitral)
- Catheter
- MRI
- Excellent investigation for aortic arch and descending aorta
- Compliments echocardiography
- Holter
- Exercise testing
- Additional investigations
- Noncardiac assessment (e.g., ophthalmic, orthopaedic)
Indications for intervention
- Beta blockers for aortic dilatation
- Surgery if aortic diameter >55 mm or rapid increase
- Significant aortic regurgitation
- Significant mitral regurgitation
Interventional options
- Urgent surgery for dissection
- Aortic root and valve replacement
- Valve sparing operation may be indicated
Posttreatment outcome
- Surgery improves life expectancy but other dissections still possible
- Beta blockers delay/prevent progression
Endocarditis
- Prophylaxis in valve regurgitation and after aortic surgery
Pregnancy/contraception/fetal
- Pregnancy contraindicated if aorta is >45 mm
- Pregnant women should be on beta blockers.
- Caesarean section to be discussed if aorta is dilated
Recurrence/genetics/syndrome
- Approximately 50% (autosomal dominant)
Sport/physical activity
- Strenuous exercise contraindicated
- High altitude and diving contraindicated (spontaneous pneumothorax)
Insurance
Follow-up interval
- Annual follow up for aortic dilatation
- More frequent evaluation if aortic diameter increasing
Follow-up care
Unresolved issues
- Role of early beta blockade
- Long-term results of surgery including valve sparing
Postoperative transposition (Mustard/Senning)
Introduction and background
- Common lesion: most Mustard/Sennings patients now adults; operation replaced by arterial switch mid 1980’s
Survival/adult life
- Low early mortality
- Significant late morbidity/mortality from arrhythmia/baffle obstruction/RV failure with risk of sudden death
Haemodynamic issues
- Intraatrial baffle obstruction (systemic and pulmonary venous) more common in Mustard than Senning
- Tricuspid regurgitation/RV failure relatively rare but important to detect early
Arrhythmia/pacing
- Progressive loss of sinus rhythm on Holter with follow-up
- Slow junctional rhythm may rarely require pacing.
- Tachyarrhythmias (predominantly atrial flutter) may be related to high incidence of late sudden death.
- Pacing may be required if antiarrhythmic drugs
Investigations
- ECG
- Right ventricular hypertrophy with basic rhythm (often junctional)
- Chest x-ray
- Useful for cardiomegaly
- Pulmonary venous obstruction
- ECHO/TOE
- TTE for ventricular function/tricuspid regurgitation
- TOE essential if questions remain regarding baffle function
- MRI
- Rarely required if TOE available
- Holter monitor
- Occult arrhythmia
- Not predictive of septal defect (SD)
- Exercise test
- Exercise tolerance
- Evaluation of arrhythmia
- Catheterization
- For intervention and assessment of new onset symptoms
- Additional
- Electrophysiologic study/RFA for refractory atrial arrhythmias
Indications for intervention
- Baffle obstruction
- Baffle leaks
- Tricuspid valve dysfunction
- RV failure
Interventional options
- Balloon/stenting for pathway obstruction
- Transcatheter closure for baffle leaks
- Tricuspid valve/replacement
- Conversion to arterial switch (pulmonary artery banding)
- Transplantation
Posttreatment outcome
- Risk of sudden death despite lack of symptoms or overt haemodynamic disturbance
Endocarditis
Pregnancy/contraception/recurrence/fetal
- Pregnancy not contraindicated in most cases
- Monitor RV function throughout
- No contraceptive issues
- Long-term consequences on RV function not known
Recurrence/genetics
- Familial recurrence of transposition of great artery rare
Syndromes
Sport/physical activity
- Generally normal activities
- Maximal exercise tolerance likely to be diminished
Insurance
Follow-up interval
Follow-up care
Unresolved issues
- Risk stratification for sudden death
- Fate of systemic RV/tricuspid valve
- Indication/conversion/transplant strategies
Congenitally corrected transposition
Introduction and background
- Rare lesion
- Usually associated with other abnormalities
- May occur with dextrocardia
Survival/adult life
- Common to survive to adult life
- Associated lesions common (VSD, PS, left AV valve regurgitation) determine outcome
Haemodynamic issues
- Cyanosis with VSD and PS
- PVD if VSD and no PS
- Systemic ventricular failure with systemic AV valve regurgitation
- Referral before systemic ventricular dysfunction
Arrhythmia/pacing
- Spontaneous complete heart block (2% per year) and postsurgical heart block
- Endocardial pacing in the morphologic LV
- Atrial arrhythmias common
- Ventricular arrhythmias with systemic ventricular dysfunction
- Epicardial pacing if potential for paradoxical embolus
Investigations
- Chest x-ray
- Baseline
- Follow-up for associated lesions
- Cardiomegaly
- ECG
- ECHO/TOE
- Size and function of systemic ventricle
- Morphology of left AV valve
- Associated lesions
- Catheter
- For pulmonary haemodynamics and anatomy of associated lesions
- MRI
- Holter monitor
- For occult arrhythmia detection
- Exercise function
- Helpful for timing of surgery
- Oximetry
- Exercise tolerance
- Additional investigations
- Occasionally multi-gated acquisition scan (MUGA) for ventricular function
Indications for intervention
- +>Moderate systemic AV valve regurgitation
- Significant associated lesions
- Pacemaker for complete AV block with symptoms, profound bradycardia, or chronotropic incompetence
Interventional options
- Valve replacement
- Pulmonary artery banding
- "Double switch" (controversial in adults)
Posttreatment outcome
- Good if left AV valve replacement before systemic ventricular function deteriorates
- Atrial arrhythmias common
Endocarditis
Pregnancy/contraception/fetal
- Pregnancy not contraindicated if asymptomatic
- Monitor ventricular function and rhythm
- Long-term consequences on systemic ventricular function unknown
- Avoid oestrogen-containing contraceptive pill if cyanosed/pulmonary hypertension
Recurrence/genetics
Syndromes
Sport/physical activity
- No restriction on recreational activities
Insurance
Follow-up interval
- Yearly, with ECHO, exercise test + Holter
Follow-up care
- Level 1 (pre and postoperative)
Unresolved issues
- Classical repair of VSD and PS versus "double switch."
