287.3 🏥 內科專科考前版

287.3.1 Mechanistic Deep Dive

287.3.1.1 Embryology

  • Heart development weeks 3-8 of gestation
  • Looping, septation, valve formation
  • Aortopulmonary septation
  • 22q11 deletion (DiGeorge): conotruncal defects (TOF, truncus, IAA-B)
  • Down syndrome (T21): AVSD common
  • Williams syndrome: supravalvular AS
  • Marfan: aortic root, MV prolapse
  • Noonan: PS, HCM

287.3.1.2 Genetic Counseling

  • Recurrence risk for offspring: 3-10% depending on lesion
  • Family screening
  • Specific syndromes: cardiac panel testing
  • Pre-conception counseling for both parents

287.3.2 Recent Trials & Updates

287.3.2.1 BREATHE-5 (2006)

  • Bosentan in Eisenmenger
  • Improved 6MWT, hemodynamics
  • Foundation for PAH-CHD treatment

287.3.2.2 MAESTRO (2018)

  • Macitentan in Eisenmenger — minimal benefit
  • Patient selection important

287.3.2.3 Sotatercept in CHD-PAH (STELLAR sub)

  • Subset analysis encouraging
  • Future indication likely

287.3.2.4 PRECISION (2023) Aprocitentan

  • Resistant HTN; relevance to CHD adult

287.3.2.5 Fontan Long-Term Outcomes Data

  • Multi-decade registries
  • Liver fibrosis surveillance
  • Plastic bronchitis, PLE
  • Heart transplant for failed Fontan

287.3.2.6 TPVR Long-Term

  • Melody / Harmony valves
  • Stenosis + IE complications
  • Re-intervention reasonable

287.3.3 High-Yield Specialist Points

287.3.3.1 ACHD Center Referral (2024 ACC/AHA)

  • Class I for moderate-complex CHD
  • Multidisciplinary team
  • Pediatric-to-adult transition critical

287.3.3.2 Arrhythmia Management

  • Atrial flutter post-Fontan or atrial baffle: catheter ablation (complex)
  • TOF VT: ablation near RVOT scar
  • ICD for primary prevention in TOF with risk factors
  • WPW + Ebstein’s: ablation

287.3.3.3 Endocarditis Prophylaxis 2024

  • Class I for high-risk lesions
  • Dental procedures with manipulation of gingival tissue
  • Amoxicillin 2 g PO 30-60 min pre-procedure (or clindamycin / azithromycin if allergic)
  • NOT for GI / GU procedures routinely

287.3.3.4 Pregnancy in ACHD

  • Pre-conception risk stratification (mWHO)
  • ACEi/ARB contraindicated in 2nd-3rd trimester
  • Warfarin contraindicated 1st trimester
  • LMWH preferred for AC
  • Vaginal delivery preferred (less hemodynamic stress)
  • Multidisciplinary team

287.3.3.5 Heart Transplantation in ACHD

  • Failed Fontan
  • Severe RV failure (TGA, ccTGA, systemic RV)
  • Severe LV failure
  • Often complex (prior surgeries, vascular tortuosity)
  • Combined heart-lung for Eisenmenger
  • LVAD bridge (modified for ACHD)

287.3.3.6 Cyanotic Patient Care Pearls

  • IV filter for paradoxical embolism prevention
  • Hydration to prevent stroke (avoid dehydration → polycythemia)
  • Iron supplementation if deficient
  • Avoid pregnancy in Eisenmenger
  • Annual pneumococcal + flu + COVID vaccine

287.3.3.7 Liver in ACHD

  • Fontan-associated liver disease (FALD): congestive hepatopathy, cirrhosis
  • Cyanotic CHD: hepatic dysfunction from chronic hypoxia
  • Surveillance: liver elastography, MRI, biopsy if concerning
  • Increased HCC risk

287.3.3.8 Specific Lesion Updates

ASD - ASD repair indication: RV dilation, paradoxical embolism, exercise intolerance, PH - Percutaneous closure preferred for ostium secundum - Sinus venosus or primum: surgical

Coarctation - Adult repair: balloon angioplasty + stent - Post-repair: re-coarctation, aneurysm, HTN - Lifelong follow-up

Bicuspid AV - 1-2% population, often familial - Aortic root dilation common - Screen first-degree relatives - See Ch284

287.3.4 Pearls

  • ACHD adults > pediatric CHD now — major shift in care
  • Specialized ACHD center referral for moderate-complex
  • Eisenmenger: R→L reversed; cyanosis + polycythemia; PAH therapy
  • Pregnancy mWHO 4: Eisenmenger, severe PAH, single vent, severe AS, dilated aorta → avoid pregnancy
  • Cyanotic care: IV filter, hydration, iron, paradoxical embolism risk
  • Arrhythmia = #1 cause of late mortality
  • TPVR, transcatheter ASD/PFO/VSD closure — modern less-invasive options