287.1 🎓 醫學生版

287.1.0.1 📌 一頁重點

287.1.0.1.1 Definition + Epidemiology

287.1.0.1.1.1 Adult Congenital Heart Disease (ACHD)

• Surviving patients born with structural heart abnormalities
• Now > 1.4 million adults in US, > 1 million in Europe
• Adults > children with CHD (mortality dropped from ~ 25% to < 5% in tertiary centers)
• Significant geographic disparity (low-income countries still lower survival)

287.1.0.1.1.2 Complexity Classification

• Simple (low complexity):
  • Isolated small ASD, VSD, PDA, mild PS, repaired PDA / ASD / VSD without sequelae
• Moderate:
  • Coarctation, Ebstein’s, moderate PS, AV canal partial, sinus venosus ASD, primum ASD
• Complex (high complexity):
  • TOF, transposition of great arteries, Eisenmenger, single ventricle (Fontan), Ebstein’s severe, complex congenital with multiple repairs

287.1.0.1.2 Why ACHD Matters

287.1.0.1.2.1 Multisystem Manifestations

• HF (RV or LV dysfunction, single ventricle physiology)
• Arrhythmias (atrial flutter, AF, VT/VF — leading cause of mortality)
• SCD (especially TOF, transposition, Eisenmenger)
• Pulmonary HTN (Eisenmenger, post-Fontan)
• Endocarditis
• Liver disease (cyanotic congenital, post-Fontan)
• Renal dysfunction
• Neurocognitive deficits
• Pregnancy risk (variable by lesion)
• Hyperviscosity (cyanotic patients, polycythemia)
• Paradoxical embolism (R→L shunt)

287.1.0.1.2.2 Need for Specialized Care

• Multidisciplinary ACHD team
• Cardiology + cardiac surgery + obstetrics + ICU + advanced imaging + electrophysiology
• 2024 ACC/AHA Class I — referral to ACHD center for moderate-complex CHD

287.1.0.1.3 Common ACHD Conditions

287.1.0.1.3.1 Shunt Lesions

• Atrial septal defect (ASD) — see Ch287
• Ventricular septal defect (VSD) — see Ch287
• Patent ductus arteriosus (PDA) — see Ch287
• Atrioventricular septal defect (AVSD / endocardial cushion)
• Anomalous pulmonary venous return

287.1.0.1.3.2 Obstructive Lesions

• Coarctation of aorta — see Ch288
• Pulmonic stenosis (PS)
• Aortic stenosis (congenital)
• Hypoplastic left heart syndrome (palliated)

287.1.0.1.3.3 Cyanotic Lesions

• Tetralogy of Fallot (TOF) — see Ch288
• Transposition of great arteries (TGA)
• Truncus arteriosus
• Tricuspid atresia
• Single ventricle / Fontan
• Ebstein’s anomaly
• Eisenmenger syndrome (acquired cyanosis from PAH reversal)

287.1.0.1.3.4 Position / Connection Defects

• Dextrocardia
• Levo-transposition (corrected TGA)
• Heterotaxy

287.1.0.1.4 Key Concepts in ACHD

287.1.0.1.4.1 Shunt Direction

• L→R shunt (acyanotic) — increased pulmonary blood flow → PH → eventual reversal
• R→L shunt (cyanotic) — desaturation
• Bidirectional

287.1.0.1.4.2 Pulmonary Vascular Resistance (PVR)

• Birth: high PVR (drops over weeks)
• Persistent high PVR or chronic L→R shunt → progressive pulmonary vascular disease → eventual reversal (Eisenmenger)
• Eisenmenger syndrome:
  • PVR > SVR
  • Reversed shunt (R→L)
  • Cyanosis, polycythemia
  • PAH-CHD subset of WHO Group 1 PAH

287.1.0.1.4.3 Cyanosis Physiology

• Right-to-left shunt
• Desaturation, polycythemia (EPO ↑)
• Hyperviscosity, paradoxical embolism, cerebral abscess
• Hypertrophic osteoarthropathy
• Clubbing
• Iron deficiency despite polycythemia (paradoxical, causes worsening)

287.1.0.1.4.4 Single Ventricle Physiology

• Functional single pumping ventricle (LV or RV morphology)
• Surgical palliation (Norwood → Glenn → Fontan)
• Fontan circulation: passive venous return to lungs → reliant on preload, low PVR
• Long-term complications: PLE (protein-losing enteropathy), plastic bronchitis, liver fibrosis, arrhythmia, HF, thromboembolism

287.1.0.1.5 Approach to the Adult Patient

287.1.0.1.5.1 History Pearls

• Original diagnosis + repair(s)
• Number of surgeries, when, where (operative report essential)
• Residual lesions
• Current symptoms (dyspnea, palpitations, syncope, cyanosis, edema)
• Activity limitation (NYHA-like)
• Medications
• Pregnancy considerations
• Vaccinations (especially endocarditis prophylaxis)
• Family history

287.1.0.1.5.2 Physical Examination

• Cyanosis, clubbing, polycythemia
• Murmurs (compare to known previous)
• Pulses (radial-femoral delay for coarctation)
• BP in all 4 extremities (coarctation)
• Sternotomy / thoracotomy scars
• JVD, peripheral edema
• Hepatomegaly
• Auscultation

287.1.0.1.5.3 Investigations

• ECG: rhythm, conduction (often RBBB post-TOF), atrial enlargement, RVH/LVH
• CXR: cardiomegaly, pulmonary vasculature, situs, “snowman” (TAPVR), “boot-shaped” (TOF)
• Echocardiogram: cornerstone; structure + function + residual shunt
• TEE: better visualization of atria, valves, prosthetic
• CMR: RV assessment, quantification of regurg/shunt, scar/fibrosis
• CT angiography: anatomy, especially aorta + great vessels
• Cardiopulmonary exercise testing (CPET): functional capacity, prognosis
• 6MWT: functional assessment
• BNP / NT-proBNP: HF marker
• Catheterization: hemodynamics, especially PH workup
• Pulse oximetry: at rest + with exercise (some have exercise-induced desaturation)
• Holter / event monitor: arrhythmia

287.1.0.1.6 Common Issues

287.1.0.1.6.1 Heart Failure

• LV or RV dysfunction depending on lesion
• Often subclinical → progressive
• HFrEF or HFpEF mechanisms vary
• Treatment: standard GDMT modified by lesion (e.g., avoid ARNI in single ventricle without clear benefit)

287.1.0.1.6.2 Arrhythmias

• Atrial flutter / fibrillation: most common; LA dilation, post-surgical scar
• Ventricular tachycardia: post-TOF (scar near RVOT), post-CHD surgery
• AV block: surgical injury, congenital
• Sinus node dysfunction: post-Fontan, post-Mustard/Senning
• Treatment: catheter ablation, ICD, pacemaker; rhythm vs rate control

287.1.0.1.6.3 Pulmonary HTN

• L→R shunt → PAH → eventual Eisenmenger
• Endothelin antagonists (bosentan), PDE5i (sildenafil), prostanoids
• BREATHE-5: bosentan in Eisenmenger
• Sotatercept (STELLAR) trial included CHD-PAH

287.1.0.1.6.4 Endocarditis Risk

• High-risk lesions: prosthetic valve, unrepaired cyanotic CHD, repaired CHD with prosthetic material < 6 mo, repaired with residual defect at site of prosthetic, history of IE
• Prophylaxis for dental procedures only

287.1.0.1.6.5 Pregnancy

• Risk stratification: mWHO 1-4 (1 = no increased risk, 4 = high risk / pregnancy contraindicated)
• mWHO 4: Eisenmenger, severe PAH, dilated aorta, severe AS, single ventricle, severe AS
• Pre-pregnancy counseling essential
• Multidisciplinary care
• Specific medications (no ACEi/ARB, no warfarin in 1st trimester)
• See Ch290

287.1.0.1.6.6 Cyanotic Complications

• Polycythemia + hyperviscosity → headache, visual disturbance, syncope; phlebotomy if Hct > 65% AND symptomatic (do NOT phlebotomize asymptomatic)
• Iron deficiency despite polycythemia (use ferritin)
• Paradoxical embolism → stroke
• Cerebral abscess
• Hyperuricemia → gout
• Hypertrophic osteoarthropathy + clubbing
• Renal dysfunction

287.1.0.1.6.7 Sudden Cardiac Death

• TOF, transposition, severe LVOT obstruction, Ebstein’s, single ventricle
• Risk factors: ↓ EF, QRS prolongation (TOF), syncope, sustained VT
• ICD for primary prevention in select

287.1.0.1.7 Specific Concerns by Lesion

287.1.0.1.7.1 TOF (most common post-childhood)

• See Ch288
• Post-repair: pulmonic regurgitation (common), RV dilation, VT, SCD
• TPVR (Melody/Harmony) for severe PR

287.1.0.1.7.2 Transposition of Great Arteries

• D-TGA: complete transposition
• L-TGA / Congenitally Corrected TGA (ccTGA): physiologically corrected, but morphologic RV in systemic circulation → eventual RV failure
• Arterial switch (modern): anatomically corrected
• Atrial switch (Mustard/Senning, older): morphologic RV as systemic → late failure, baffle obstruction, arrhythmia
• Senile arterial switch patients are doing well; Mustard/Senning have late complications

287.1.0.1.7.3 Single Ventricle / Fontan

• Hypoplastic left heart, tricuspid atresia, etc.
• Norwood → Glenn → Fontan staged
• Fontan failure: HF, atrial arrhythmia, PLE, plastic bronchitis, hepatic fibrosis, thromboembolism
• Heart transplant for failed Fontan

287.1.0.1.7.4 Ebstein’s Anomaly

• TV displacement, RV atrialization
• Variable TR
• ASD/PFO common (cyanosis)
• WPW association (high incidence)
• Cone reconstruction surgical option

287.1.0.1.7.5 PAH-CHD

• WHO Group 1 PAH
• Eisenmenger syndrome with high mortality
• Treatment: PAH-specific drugs (ERA, PDE5i, prostanoid)
• BREATHE-5: bosentan in Eisenmenger
• Avoid: vasodilators that worsen cyanosis (ACEi acute)

287.1.0.1.8 Care Coordination

• Lifelong ACHD specialist follow-up (Class I)
• Annual to bi-annual visits
• Multidisciplinary: cardiology + CT surgery + EP + imaging + OB + ICU + cardio-onc if needed
• Mental health: depression, anxiety common
• Insurance, occupational issues

287.1.0.2 🩺 床邊速查

• ACHD patients > pediatric CHD now; lifelong specialty care needed
• Eisenmenger: any L→R shunt → reversed R→L from PAH; cyanosis + polycythemia
• Single ventricle / Fontan: passive pulmonary flow, fragile circulation
• Cyanotic complications: polycythemia + paradoxical embolism + cerebral abscess + iron def + hyperviscosity
• Pregnancy mWHO 4 (avoid): Eisenmenger, severe PAH, dilated aorta, severe AS, single vent

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