Managing Congenital Heart Disease Adults

Documents to Request

• Complete surgical/interventional history with operative reports
• Most recent echocardiogram (TTE ± TEE)
• Cardiac MRI (gold standard for RV assessment, Qp:Qs, conduit evaluation)
• Recent ECG and ambulatory monitoring
• Exercise stress test with functional capacity (METs, VO₂ max)
• Cardiac catheterization data (if hemodynamic assessment needed)
• CT chest/cardiac CT (for anatomy, coronary assessment, reintervention planning)
• Current medication list
• Labs: BNP/NT-proBNP, CBC, BMP, iron studies, SpO₂
• Genetic testing results if syndromic (Down, Turner, DiGeorge, Williams)

Step 1: ACHD Anatomic and Physiologic Classification

ACC/AHA ACHD Anatomic Complexity:

ACHD Physiologic Stage (AP Classification):

Step 2: Lesion-Specific Management

Tetralogy of Fallot (Repaired):

• Residual issues: pulmonary regurgitation (PR), RV dilation, RVOT obstruction, VSD patch leak, arrhythmia
• Pulmonary valve replacement indication: severe PR with symptoms OR progressive RV dilation (RVEDVI > 150 mL/m²) or dysfunction (RVEF < 45%)
• Arrhythmia risk: VT (scar-related), sudden cardiac death risk stratified by QRS > 180 ms, non-sustained VT, severe RV dysfunction
• Monitoring: annual CMR, ECG, exercise test; Holter if arrhythmia symptoms

Transposition of the Great Arteries:

• Post-atrial switch (Mustard/Senning): systemic RV (failing long-term), baffle leaks/obstruction, sinus node dysfunction, atrial arrhythmias
• Post-arterial switch (Jatene): coronary ostial stenosis, neo-aortic root dilation, neo-aortic regurgitation, branch PA stenosis
• Congenitally corrected TGA (L-TGA): systemic RV failure, complete heart block (2% per year)

Fontan (Single Ventricle):

• Long-term complications: protein-losing enteropathy, plastic bronchitis, liver fibrosis/cirrhosis (Fontan-associated liver disease), atrial arrhythmias, thromboembolism
• Monitoring: annual echo, liver elastography, hepatic MRI every 2–3 years, AFP for HCC screening
• Anticoagulation: warfarin or DOAC (practice varies; warfarin preferred for fenestrated Fontan)
• Failing Fontan: consider Fontan revision or cardiac transplant evaluation

Eisenmenger Syndrome:

• Irreversible pulmonary vascular disease with right-to-left shunting
• Do NOT close the defect (shunt serves as pressure relief valve)
• Medical management: PAH-targeted therapy (ERA, PDE5i) — improves exercise capacity and symptoms
• Avoid: systemic vasodilators (worsen R→L shunt), dehydration, pregnancy (30–50% maternal mortality), general anesthesia (extreme caution)
• Phlebotomy only if symptomatic hyperviscosity AND Hct > 65% (not routine)

Coarctation of the Aorta (Repaired):

• Long-term: re-coarctation, hypertension (even after successful repair), bicuspid aortic valve disease, ascending aortic aneurysm, berry aneurysms
• Monitor: BP in all four extremities, annual imaging of aorta, BAV surveillance

Step 3: Arrhythmia Management in ACHD

Common Arrhythmias by Lesion:

Principles:

• Catheter ablation is first-line for symptomatic SVT/IART when anatomy permits
• Antiarrhythmic drugs: amiodarone most effective but toxicity limits use; sotalol, flecainide (only if no structural dysfunction)
• ICD: for documented sustained VT/VF, or high-risk features in repaired TOF (QRS > 180 ms, severe RV dysfunction, NSVT, inducible VT on EP study)
• Pacemaker: sinus node dysfunction (post-atrial switch), progressive AV block (L-TGA: 2% per year)

Step 4: Pregnancy Risk Assessment

Modified WHO Classification for Pregnancy Risk in CHD:

CARPREG II Risk Score:

• Variables: prior cardiac event, NYHA III/IV or cyanosis, mechanical valve, ventricular dysfunction, high-risk valve disease, coronary artery disease, high-risk aortopathy, no prior cardiac intervention, late pregnancy assessment
• Predicts adverse maternal cardiac events during pregnancy

Anticoagulation in Pregnancy:

• Warfarin: teratogenic (first trimester); lowest-risk strategy for mechanical valves may involve LMWH first trimester → warfarin second/third trimester → LMWH near delivery
• Heparin/LMWH: does not cross placenta; used when warfarin is contraindicated
• DOACs: contraindicated in pregnancy

Step 5: Ongoing Surveillance and Transition of Care

Follow-Up Intervals by Complexity:

Core Surveillance Components:

• Echocardiogram (annual for moderate/complex)
• Cardiac MRI (every 2–3 years for RV assessment, conduit evaluation, Fontan)
• ECG and Holter monitoring (annual or with symptoms)
• Exercise stress test with VO₂ max (every 1–2 years; peak VO₂ is a strong prognostic marker)
• BNP/NT-proBNP trending
• Liver assessment for Fontan patients (elastography, AFP)
• Dental health and endocarditis prophylaxis review

Transition of Care:

• Formal transition program from pediatric to adult cardiology at age 16–18
• Transfer to ACHD-accredited center by age 18–21
• Ensure comprehensive medical records transfer (surgical reports are critical)
• Address psychosocial needs: insurance, education, employment, contraception counseling

Checkpoint B: Post-Draft Alignment (Mandatory)

1. Is the specific congenital lesion identified with repair status documented?
2. Is the anatomic complexity and physiologic stage (AP classification) assigned?
3. Are lesion-specific complications and monitoring addressed?
4. Is pregnancy risk assessed using mWHO classification (if applicable)?
5. Is the follow-up plan assigned to the appropriate level of care (general vs. ACHD center)?

Quality Audit

• Congenital heart defect specifically identified
• Surgical/interventional history documented with dates and techniques
• ACC/AHA anatomic complexity classification assigned (simple/moderate/complex)
• AP physiologic stage documented (A–D)
• Current cardiac anatomy described (echo/CMR findings)
• RV function quantified (especially post-TOF, atrial switch, Fontan)
• Arrhythmia risk assessed for specific lesion
• Endocarditis prophylaxis indication reviewed
• Exercise capacity documented (METs or VO₂ max)
• Pregnancy risk classified by mWHO (if applicable)
• Contraception counseling documented for mWHO III–IV
• Follow-up interval and care location appropriate for complexity
• ACHD center referral made or documented if moderate/complex
• Psychosocial and transition of care needs addressed

Guidelines

1. All patients with moderate or complex ACHD should be followed at an ACHD-accredited center — general cardiologists may miss lesion-specific complications.
2. Cardiac MRI is the gold standard for RV assessment in repaired TOF and systemic RV patients — echocardiography alone is insufficient for these lesions.
3. Eisenmenger syndrome is an absolute contraindication to pregnancy (30–50% maternal mortality) and to defect closure — both are lethal interventions in this population.
4. Fontan patients require lifelong surveillance for liver disease — Fontan-associated liver disease (FALD) progresses silently and can develop hepatocellular carcinoma.
5. Exercise testing with VO₂ max is the single best prognostic tool in ACHD — declining peak VO₂ predicts hospitalization and mortality.
6. Endocarditis prophylaxis is indicated for: unrepaired cyanotic CHD, repaired CHD with residual defects at or adjacent to prosthetic material, and all prosthetic valves — for dental procedures involving gingival tissue or periapical region.
7. Anticoagulation in pregnant patients with mechanical valves requires a detailed risk-benefit discussion — warfarin provides best valve protection but is teratogenic in the first trimester.
8. QRS duration > 180 ms in repaired TOF is a validated marker for sudden cardiac death risk and should trigger evaluation for ICD or catheter ablation.