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Mechanistic Deep Dive
TOF Genetics
- 22q11.2 deletion (DiGeorge syndrome) â 15-20% of TOF
- NKX2.5 mutations
- JAG1 mutations (Alagille)
- Family hx in some
Embryology
- Failed conotruncal septation
- Right-anterior deviation of infundibular septum
- Results in 4 anatomic features
Eisenmenger Pathology
- Plexiform lesions in pulmonary arteries
- Endothelial dysfunction, smooth muscle proliferation
- Inflammation
- Similar to other PAH causes but driven by chronic â flow
Recent Trials & Updates
TPVR Long-Term Data
- Melody and Harmony 10+ year data
- Stenosis + endocarditis main complications
- Re-intervention feasible
COMPASSION (2022) â Melody for ToF/PVR
- Multicenter registry
- Safety + efficacy data
EMPACT-MI Subgroup
- ACHD with HF benefit similar to non-ACHD
Heart-Lung Transplant for Eisenmenger
- Single-center long-term outcomes
- Improved with modern immunosuppression
High-Yield Specialist Points
TPVR (Transcatheter Pulmonary Valve Replacement)
- Melody (Medtronic): bovine jugular vein graft
- Harmony (Medtronic): self-expanding for native RVOT
- Edwards SAPIEN: balloon-expandable, off-label native
- Indications: severe PR with RV dilation, dysfunction, arrhythmia
- Bridge to surgical PVR
- Complications: endocarditis, stent fracture, stenosis
Surgical PVR
- Bioprosthetic preferred (avoid AC)
- Durability ~ 10-15 years
- Often need re-do
TOF + LV Dysfunction
- Late LV dysfunction common
- Associated with RV-LV interaction
- GDMT same as standard HFrEF (ACEi/ARB/ARNI + β-blocker + MRA + SGLT2i)
Coarctation Post-Op Care
- HTN despite repair (50%)
- Lifelong CV risk: dissection, CAD, HF
- BP control < 130/80
- Aspirin
- Lipid management
- Lifelong CMR follow-up
Bicuspid AV + Coarctation
- 50-80% of coarctation has BAV
- Aortic root dilation
- Screen first-degree relatives
- Lifelong follow-up
TGA Late Issues
- Mustard/Senning: baffle stenosis, baffle leak, atrial arrhythmia, sinus node dysfunction
- Permanent pacer common
- ICD for selected (sudden death risk)
- TR (systemic AV valve) progressive
- Eventual transplantation
ccTGA Management
- GDMT for systemic RV
- TR (systemic AV valve) surgery if severe
- Pregnancy mWHO 3
- Atrial arrhythmia ablation
Genetic Counseling in TOF
- Recurrence risk: 3-5% in offspring (~ 10x baseline)
- 22q11 testing
- Family screening
Pregnancy in TOF
- mWHO 2-3 depending on residual issues
- Pre-pregnancy assessment with CPET
- Severe PR + RV dysfunction increases risk
- Multidisciplinary care
Eisenmenger + Iron
- Iron deficiency in 25-30%
- Despite high Hct, iron stores low
- Iron supplementation if ferritin < 15-20
- Avoid phlebotomy except symptomatic hyperviscosity
Sotatercept in PAH-CHD
- STELLAR subgroup encouraging
- Likely future approval
IE Prophylaxis in Eisenmenger
- Class I for unrepaired cyanotic CHD
- Dental, surgical procedures
- Amoxicillin 2 g
Pearls
- TOF: 4 features; modern survival > 90%; PR + VT + SCD = late issues
- TPVR for severe PR: Melody, Harmony, SAPIEN
- Coarctation: HTN persistence common; lifelong CV follow-up
- D-TGA arterial switch: anatomical correction; coronary + neo-AV issues
- Mustard/Senning + ccTGA: systemic RV â eventual failure
- Eisenmenger: avoid pregnancy (30-50% maternal mortality); BREATHE-5 bosentan
- 22q11 deletion (DiGeorge) in 15-20% of TOF