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cardio.dcm-genetic.chronic.v1PRODUCTION
cardio.dcm-genetic.chronic.v1

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

cardiologychronicadult
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Encounter flow

12/12 authored

Canonical 12-phase frame with authored status for this dossier.

Current phase

Frame

Detailed

Establish genetic/familial DCM + genotype — genotype drives ICD threshold + prognosis

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genetic DCM + genotype framed

Patient inputs (11)

Pediatric/young more severe; surveillance cadence

Cascade screening + inheritance pattern

LMNA/FLNC/DSP/RBM20/PLN/TMEM43 (arrhythmogenic, low ICD threshold) vs TTN (standard) — management-defining

GDMT + standard ICD criteria; arrhythmogenic genotypes override at higher EF

Functional status + GDMT/transplant timing

GDMT dosing

LGE burden refines arrhythmic/SCD risk (esp. DSP/FLNC)

Alcohol/tachycardia/peripartum/toxin — treat, but genetic substrate persists

AF common (esp. LMNA) — rate/rhythm + anticoagulation

AV conduction disease — LMNA risk-model component + ICD-capable device decision

Non-sustained VT — LMNA risk-model component + arrhythmic risk

* = hard-required. Engine cannot meaningfully run until these are filled.

Severity triggers (9)

9 need judgement
  • informationallife_threateninglmna_low_icd_threshold
    LMNA cardiomyopathy — conduction disease + malignant VT often before LV dysfunction; ICD by LMNA risk model even at EF >35; if pacing indicated use ICD-capable device — Wahbi JACC 2019
    Trigger could not be auto-evaluated — needs clinician judgement.
  • informationallife_threateningend_stage_transplant_lvad
    End-stage genetic DCM (LMNA often progresses despite GDMT) — transplant / durable LVAD evaluation — 2023 ESC Cardiomyopathy
    Trigger could not be auto-evaluated — needs clinician judgement.
  • informationalsevereflnc_dsp_rbm20_arrhythmic
    FLNC-truncating / DSP / RBM20 / PLN / TMEM43 — arrhythmic DCM, high LGE/SCD; low ICD threshold; DSP "hot phases" mimic myocarditis — 2023 ESC Cardiomyopathy
    Trigger could not be auto-evaluated — needs clinician judgement.
  • informationalseveregdmt_withdrawal_relapse
    Recovered EF on GDMT in genetic DCM — do NOT withdraw therapy (TRED-HF relapse, genetic substrate persists) → route HF-improved engine — TRED-HF Lancet 2019
    Trigger could not be auto-evaluated — needs clinician judgement.
  • informationalseverepregnancy_special_pop
    Pregnancy with genetic DCM — peripartum unmasking/decompensation; STOP ACEi/ARB/ARNi/SGLT2i → BB ± hydralazine; LMNA arrhythmic risk; cardio-obstetric — ESC 2018 Pregnancy
    Trigger could not be auto-evaluated — needs clinician judgement.
  • informationalmoderatettn_gdmt_responsive
    TTN-truncating DCM — GDMT-responsive with good reverse-remodeling; ICD by STANDARD EF criteria (not low-threshold) — 2023 ESC Cardiomyopathy
    Trigger could not be auto-evaluated — needs clinician judgement.
  • informationalmoderategene_positive_phenotype_negative
    Pathogenic-variant carrier without phenotype — serial surveillance (echo/ECG/Holter); exercise restriction if arrhythmogenic genotype — 2023 ESC Cardiomyopathy
    Trigger could not be auto-evaluated — needs clinician judgement.
  • informationalmoderatereversible_contributor_branch
    Coexisting alcohol/tachycardia/toxin contributor in genetic DCM — treat the reversible factor but maintain genetic-substrate management (do not assume cure) — 2023 ESC Cardiomyopathy
    Trigger could not be auto-evaluated — needs clinician judgement.
  • informationalmoderateckd_special_pop
    CKD — GDMT dose-gating — KDIGO 2024
    Trigger could not be auto-evaluated — needs clinician judgement.

Workflow calculators

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TREATMENTrequiredDrives dose adjustment
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Recommended regimen

Genetic DCM — HFrEF GDMT + genotype-specific ICD (2022 AHA/ACC/HFSA; 2023 ESC Cardiomyopathy)
axis: genetic_dcm_gdmt_and_genotype_icdstep 1 - Step 1 — HFrEF 4-pillar GDMT for systolic dysfunction (TTN best reverse-remodeling)
Selected step "Step 1 — HFrEF 4-pillar GDMT for systolic dysfunction (TTN best reverse-remodeling)" — Genetic DCM with LVEF ≤40
  • sacubitril/valsartan
    first line
    ARNi
    24/26→97/103 mg • PO • BID
    triggers: LVEF<=40, SBP>=100
    Standard HFrEF GDMT applies — TTN-truncating DCM is particularly GDMT-responsive (PARADIGM-HF; 2022 ACC/AHA HF)
    rxcui 1656340
  • carvedilol
    first line
    beta_blocker
    3.125→25 mg • PO • BID
    triggers: LVEF<=40
    Evidence-based BB pillar (2022 ACC/AHA HF)
    rxcui 20352
  • spironolactone
    first line
    MRA
    12.5–25 mg • PO • once daily
    triggers: LVEF<=40, K<=5.0
    MRA pillar (2022 ACC/AHA HF)
    rxcui 9997
  • dapagliflozin
    first line
    SGLT2i
    10 mg • PO • once daily
    triggers: eGFR>=20
    SGLT2i pillar (2022 ACC/AHA HF)
    rxcui 1488564

outpatient playbook — drug actions (3)

  1. 1. 4-pillar HFrEF GDMT
    per HFrEF protocol • PO • per drug
    trigger: LVEF ≤40 (2022 ACC/AHA HF)
    Disease-modifying — esp. TTN reverse remodeling
  2. 2. genotype-specific ICD
    device • device • n/a
    trigger: Arrhythmogenic genotype with risk / EF ≤35 / sustained VA (2023 ESC Cardiomyopathy)
    Low threshold; ICD-capable if pacing needed in LMNA
  3. 3. amiodarone ± ablation for VA
    amiodarone load→200 mg/day • PO • daily
    trigger: Recurrent VA (2023 ESC Cardiomyopathy)
    VA suppression; does not replace ICD

Auto-drafted A&P note

outpatient

Subjective

- Possible entry pathways: Echo: dilated LV + systolic dysfunction (non-ischemic); Family history of DCM / unexplained SCD / known pathogenic variant; AV block / conduction disease with DCM (LMNA flag).

Objective

- No vitals, labs, or imaging entered for this encounter.

Assessment

**Genetic / familial dilated cardiomyopathy (LMNA/FLNC/TTN/RBM20/DSP, chronic)** (cardio.dcm-genetic.chronic.v1).
Phenotype framing: Genetic DCM vs acquired DCM vs ARVC/ALVC vs LVNC vs myocarditis
Scope: Establish genetic/familial DCM + genotype — genotype drives ICD threshold + prognosis

No severity triggers fired against current inputs.

Plan

Regimen axis: **Genetic DCM — HFrEF GDMT + genotype-specific ICD (2022 AHA/ACC/HFSA; 2023 ESC Cardiomyopathy)** — step "Step 1 — HFrEF 4-pillar GDMT for systolic dysfunction (TTN best reverse-remodeling)".
1. sacubitril/valsartan 24/26→97/103 mg PO BID (ARNi, first line) — Standard HFrEF GDMT applies — TTN-truncating DCM is particularly GDMT-responsive (PARADIGM-HF; 2022 ACC/AHA HF)
2. carvedilol 3.125→25 mg PO BID (beta_blocker, first line) — Evidence-based BB pillar (2022 ACC/AHA HF)
3. spironolactone 12.5–25 mg PO once daily (MRA, first line) — MRA pillar (2022 ACC/AHA HF)
4. dapagliflozin 10 mg PO once daily (SGLT2i, first line) — SGLT2i pillar (2022 ACC/AHA HF)

Setting playbook (outpatient) — GDMT for systolic dysfunction + genotype-specific ICD + cascade screening + exercise counseling (2022 AHA/ACC/HFSA; 2023 ESC Cardiomyopathy)
5. 4-pillar HFrEF GDMT per HFrEF protocol PO per drug — LVEF ≤40 (2022 ACC/AHA HF) (Disease-modifying — esp. TTN reverse remodeling)
6. genotype-specific ICD device device n/a — Arrhythmogenic genotype with risk / EF ≤35 / sustained VA (2023 ESC Cardiomyopathy) (Low threshold; ICD-capable if pacing needed in LMNA)
7. amiodarone ± ablation for VA amiodarone load→200 mg/day PO daily — Recurrent VA (2023 ESC Cardiomyopathy) (VA suppression; does not replace ICD)

Non-pharmacologic actions:
- Genetic counseling + first-degree family cascade screening + serial carrier evaluation — 2023 ESC Cardiomyopathy
- Exercise restriction in arrhythmogenic genotypes (LMNA/FLNC/DSP) — 2023 ESC Cardiomyopathy
- Inherited-cardiomyopathy centre + EP referral — 2023 ESC Cardiomyopathy
- Do NOT withdraw GDMT on EF recovery (TRED-HF) — Halliday Lancet 2019

AVOID / contraindication checks:
- Low ICD threshold in LMNA FLNC DSP RBM20 even at EF gt 35 — 2022 AHA/ACC/HFSA; 2023 ESC Cardiomyopathy
- Use ICD capable device if pacing indicated in LMNA — 2023 ESC Cardiomyopathy
- Do not withdraw GDMT on recovery in genetic DCM — TRED HF Halliday Lancet 2019
- Exercise restriction in arrhythmogenic DCM genotypes — 2023 ESC Cardiomyopathy
- Treat reversible contributors but genetic substrate persists — 2023 ESC Cardiomyopathy

Monitoring

Regimen monitoring:
- serial echo LVEF and Holter genotype specific cadence — 2023 ESC Cardiomyopathy
- LMNA risk model reassessment for ICD — Wahbi JACC 2019
- do not withdraw GDMT on recovery — TRED-HF Lancet 2019
- first degree family cascade and serial carrier evaluation — 2023 ESC Cardiomyopathy
- BMP during GDMT titration — 2022 ACC/AHA HF

Setting (outpatient) monitoring:
- Serial echo/Holter genotype-specific; LMNA risk reassessment — Wahbi JACC 2019
- BMP during GDMT titration — 2022 ACC/AHA HF

Follow-up plan: First-degree family cascade screening + serial evaluation of gene-positive relatives; lifelong genotype-specific care
- Close-out criterion: cascade + long-term plan documented

Monitoring phase: Serial echo/Holter; genotype-specific cadence; do-not-withdraw GDMT on recovery (TRED-HF)

Disposition

Current setting: outpatient — GDMT for systolic dysfunction + genotype-specific ICD + cascade screening + exercise counseling (2022 AHA/ACC/HFSA; 2023 ESC Cardiomyopathy)

Disposition criteria:
- Genetic DCM → GDMT + genotype-specific ICD decision + cascade
- Gene-positive phenotype-negative → surveillance + exercise counseling
- End-stage → transplant/LVAD evaluation

Escalation triggers (move to higher acuity):
- High-grade AV block in LMNA → ICD-capable device (not PPM-only) — 2023 ESC Cardiomyopathy
- Sustained VT/VF → EP + ICD — 2023 ESC Cardiomyopathy
- Progressive end-stage (esp. LMNA) → transplant/LVAD — 2023 ESC Cardiomyopathy

Earlier-Return Triggers

Return-precaution thresholds (watch for):
- [LIFE_THREATENING] LMNA cardiomyopathy — conduction disease + malignant VT often before LV dysfunction; ICD by LMNA risk model even at EF >35; if pacing indicated use ICD-capable device — Wahbi JACC 2019
- [LIFE_THREATENING] End-stage genetic DCM (LMNA often progresses despite GDMT) — transplant / durable LVAD evaluation — 2023 ESC Cardiomyopathy
- [SEVERE] FLNC-truncating / DSP / RBM20 / PLN / TMEM43 — arrhythmic DCM, high LGE/SCD; low ICD threshold; DSP "hot phases" mimic myocarditis — 2023 ESC Cardiomyopathy

Citations

- 2023 ESC Cardiomyopathy Guideline + 2022 AHA/ACC/HFSA HF Guideline; Wahbi LMNA risk model; TRED-HF [PMID:37622657](https://pubmed.ncbi.nlm.nih.gov/37622657/)
- Cited evidence (PMID 35379504) [PMID:35379504](https://pubmed.ncbi.nlm.nih.gov/35379504/)
- Cited evidence (PMID 30871198) [PMID:30871198](https://pubmed.ncbi.nlm.nih.gov/30871198/)
- Cited evidence (PMID 30429050) [PMID:30429050](https://pubmed.ncbi.nlm.nih.gov/30429050/)
- Cited evidence (PMID 31535829) [PMID:31535829](https://pubmed.ncbi.nlm.nih.gov/31535829/)

Last reconciled with current guidelines: 2026-05-16.
References