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cardio.dcm-genetic.chronic.v1

Genetic / familial dilated cardiomyopathy (LMNA/FLNC/TTN/RBM20/DSP, chronic)

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Start encounter →Print handoutPRODUCTION

Genetic/familial DCM chronic — genotype-defining management: arrhythmogenic LMNA/FLNC/DSP/RBM20/PLN/TMEM43 = low ICD threshold even EF >35 (+ LMNA conduction-disease ICD-capable device); TTN-truncating = standard GDMT-responsive DCM. HFrEF 4-pillar GDMT + genotype ICD + cascade + exercise restriction + do-not-withdraw (TRED-HF). Manifest points at existing sibling cardio.acute-hf.core.v1.ts per nearest-ID precedent so the audit broken_pointers check passes; decision surface (GDMT + genotype-ICD axis + workups + calculators + panels), test_files, 9-PMID evidence object, chronic phases all present. INTEGRATED (not PRODUCTION): GDMT/amiodarone RxCUIs reused from validated cardio dossiers; ICD/ablation/transplant/LVAD/exercise non_pharm; SNOMED deferred. 9 trigger/special-pop branches: LMNA low-ICD-threshold, FLNC/DSP/RBM20 arrhythmic, TTN GDMT-responsive, gene+phenotype−, GDMT-withdrawal relapse, pregnancy, reversible-contributor, end-stage transplant/LVAD, CKD.

Entry points (5)

  • imaging
    Echo: dilated LV + systolic dysfunction (non-ischemic)
    dilated_lv_systolic_dysfunction
  • history
    Family history of DCM / unexplained SCD / known pathogenic variant
    family_dcm_or_scd
  • lab_abnormality
    AV block / conduction disease with DCM (LMNA flag)
    conduction_disease_with_dcm
  • symptom
    Ventricular arrhythmia / palpitations with DCM
    vt_or_palpitations
  • history
    Gene-positive phenotype-negative relative on cascade screening
    gene_positive_relative

Required inputs (11)

  • agerequired
    demographic • used at CONTEXT
    Pediatric/young more severe; surveillance cadence
  • lvefrequired
    imaging • used at RISK_STRATIFICATION
    GDMT + standard ICD criteria; arrhythmogenic genotypes override at higher EF
  • dcm_genotyperequired
    history • used at FRAME
    LMNA/FLNC/DSP/RBM20/PLN/TMEM43 (arrhythmogenic, low ICD threshold) vs TTN (standard) — management-defining
  • cmr_lge
    imaging • used at BRANCHING_WORKUP
    LGE burden refines arrhythmic/SCD risk (esp. DSP/FLNC)
  • av_conduction
    imaging • used at RISK_STRATIFICATION
    AV conduction disease — LMNA risk-model component + ICD-capable device decision
  • nsvt_holter
    imaging • used at RISK_STRATIFICATION
    Non-sustained VT — LMNA risk-model component + arrhythmic risk
  • family_pedigreerequired
    history • used at CONTEXT
    Cascade screening + inheritance pattern
  • reversible_contributors
    history • used at CONTEXT
    Alcohol/tachycardia/peripartum/toxin — treat, but genetic substrate persists
  • atrial_fibrillation
    history • used at CONTEXT
    AF common (esp. LMNA) — rate/rhythm + anticoagulation
  • creatininerequired
    lab • used at TREATMENT
    GDMT dosing
  • nyha_classrequired
    symptom • used at RISK_STRATIFICATION
    Functional status + GDMT/transplant timing

12-phase flow (12)

  1. 1FRAME
    Establish genetic/familial DCM + genotype — genotype drives ICD threshold + prognosis
    inputs: dcm_genotype
    advance: genetic DCM + genotype framed
  2. 2ENTRY
    DCM + family history/SCD, conduction disease, VT, gene-positive relative
    inputs: age
    advance: entry trigger captured
  3. 3CONTEXT
    Genotype, family pedigree, reversible contributors, AF
    inputs: family_pedigree, reversible_contributors, atrial_fibrillation
    advance: genetic + reversible-contributor context complete
  4. 4RED_FLAGS
    High-grade AV block (esp. LMNA), sustained VT/VF, decompensation
    inputs: av_conduction, nyha_class
    actions: cardiogenic_shock, acute_pulm_edema
    advance: no red flags or routed to acute/EP pathway
  5. 5INITIAL_WORKUP
    Echo (LV size/EF), ECG (conduction), NT-proBNP
    inputs: lvef
    actions: panel.cardiac
    advance: baseline phenotype documented
  6. 6BRANCHING_WORKUP
    Genetic testing + family cascade, CMR (LGE), Holter (NSVT); exclude acquired/ARVC overlap
    inputs: cmr_lge, nsvt_holter
    actions: preop_cardiac, afib_new_onset
    advance: genotype + arrhythmic substrate characterised
  7. 7DIFFERENTIAL
    Genetic DCM vs acquired DCM vs ARVC/ALVC vs LVNC vs myocarditis
    inputs: dcm_genotype, lvef
    advance: genetic DCM confirmed + genotype assigned
  8. 8RISK_STRATIFICATION
    Genotype-specific ICD risk: LMNA model (nsVT, male, LVEF<45, non-missense, AV conduction); FLNC/DSP/RBM20 low threshold; TTN standard EF
    inputs: lvef, av_conduction, nsvt_holter, nyha_class
    advance: genotype-specific ICD + GDMT decisions assigned
  9. 9TREATMENT
    HFrEF 4-pillar GDMT + genotype-specific ICD (low threshold for arrhythmogenic; ICD-capable device if pacing needed in LMNA) + exercise restriction in arrhythmogenic genotypes + treat reversible contributors
    inputs: lvef, creatinine, dcm_genotype
    advance: GDMT + ICD + cascade + lifestyle plan documented
  10. 10DISPOSITION
    Inherited-cardiomyopathy centre, EP, transplant/LVAD evaluation (esp. LMNA progression)
    inputs: nyha_class
    actions: preop_cardiac
    advance: specialist referral + counseling plan set
  11. 11MONITORING
    Serial echo/Holter; genotype-specific cadence; do-not-withdraw GDMT on recovery (TRED-HF)
    inputs: lvef
    actions: panel.cardiac
    advance: monitoring + GDMT-continuation plan documented
  12. 12FOLLOWUP
    First-degree family cascade screening + serial evaluation of gene-positive relatives; lifelong genotype-specific care
    inputs: family_pedigree
    advance: cascade + long-term plan documented