271.3 🩺 內科專科考前版

271.3.0.1 1⃣ Mavacamten Implementation

  • FDA 2022 for obstructive HCM
  • Selective myosin inhibitor
  • Improves symptoms + exercise capacity + reduces LVOT gradient
  • Reduces need for myectomy / alcohol septal ablation
  • Adverse: heart failure (rare), atrial fibrillation, lower EF
  • Genetic testing for CYP2C19 polymorphism (slow metabolizers — different dosing)
  • Cost concern (high)

271.3.0.2 2⃣ HCM Family Screening

  • All first-degree relatives
  • ECG + echocardiogram + clinical assessment
  • Genetic testing if proband mutation identified
  • Cascade screening
  • Pre-symptomatic identification + risk stratification

271.3.0.3 3⃣ Cardiac Amyloidosis: ATTR vs AL Critical

  • ATTR amyloidosis: treatable with tafamidis (TTR stabilizer)
  • AL amyloidosis: requires chemotherapy (cardiology + hematology)
  • Subtype determination essential (different prognosis + treatment)
  • AL has more aggressive course but treatable; ATTR more chronic but improving with newer therapies

271.3.0.4 4⃣ ICI Myocarditis Recognition

  • 1-2% combined ipi-nivo (less with monotherapy)
  • Often combined with myositis (“overlap”)
  • Can be fatal if not recognized
  • Onset typically 1-3 months after starting ICI
  • Symptoms: chest pain, dyspnea, fatigue, palpitations
  • ECG, troponin, BNP, CMR
  • High-dose corticosteroids + stop ICI essential
  • Cardio-oncology referral
  • Sometimes additional immunosuppression (infliximab, MMF)

271.3.0.5 5⃣ Sarcoid Cardiomyopathy

  • Diagnostic challenge — often subclinical until conduction issues or VT
  • Cardiac MRI + FDG-PET for active inflammation
  • Biopsy (endomyocardial or extracardiac — lymph node)
  • Corticosteroids + steroid-sparing agents (methotrexate, azathioprine, MMF)
  • ICD for VT / high-risk SCD
  • Pacemaker for high-grade AV block

271.3.0.6 6⃣ Genetic Testing in Cardiomyopathy

  • HCM + DCM + ARVC + LQTS + Brugada
  • Identifies mutation → cascade screening
  • Some prognostic information
  • Some treatment implications (lamin DCM = high arrhythmia risk → consider ICD earlier)
  • Insurance + genetic counseling considerations

271.3.0.7 7⃣ Peripartum Cardiomyopathy Management

  • Standard HFrEF therapy (excluding pregnancy-contraindicated)
  • ACEi/ARB avoided during pregnancy; OK postpartum + breastfeeding
  • Bromocriptine investigational
  • 30-50% recover EF
  • Future pregnancy counseling (high risk for recurrence)

271.3.0.8 8⃣ Family Screening Recommendations

  • DCM: first-degree relatives (echo + ECG)
  • HCM: first-degree relatives (echo + ECG + genetic if mutation known)
  • ARVC: first-degree relatives (echo + ECG + MRI)
  • LQTS, Brugada, CPVT: comprehensive screening

271.3.0.9 9⃣ 健保 / Taiwan

  • 健保 cardiomyopathy workup widely available
  • Cardiac MRI in tertiary centers
  • 健保 tafamidis covered for ATTR amyloid (recent inclusion)
  • Mavacamten 自費 / 健保 limited
  • Cardio-oncology programs expanding
  • Genetic testing limited (high cost; some research / specialty)

271.3.0.10 10. Future + Innovations

  • mRNA-based therapies for genetic cardiomyopathies (in development)
  • Gene therapy (CRISPR + AAV) for specific mutations
  • Cardiac regenerative therapies (stem cells, iPS) — research
  • AI-guided diagnostics for cardiomyopathy subtypes
  • Wearable / implantable monitoring
  • Pharmacogenomic-guided therapy