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September 15, 2026European Heart Journal Supplements

From Electrical Disease to Structural Cardiomyopathy: A Challengies in Risk Stratification in Asymptomatic Lmna Variant Carriers

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Key result

Heterozygous LMNA variant carriers show early electrical manifestations and myocardial fibrosis before overt systolic dysfunction.

  • n=3

Population

3 patients carrying a heterozygous LMNA variant.

Design

Case_report

Authors

MFM FrangioneAPA ParodiMMM Martini

Discussion

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Overview

Early fibrosis imaging and arrhythmia monitoring may warrant consideration in LMNA carriers; leaves open validation in larger prospective cohorts.

Key Points

  • To describe the clinical evaluation and personalized risk stratification strategy for asymptomatic familial carriers of an LMNA gene variant associated with dilated cardiomyopathy.
  • Assessed a 70-year-old male proband presenting with acute heart failure and malignant ventricular arrhythmias alongside his two asymptomatic sons (aged 37 and 34 years) carrying the identical heterozygous LMNA variant.
  • Diagnostic workup included genetic sequencing, 12-lead ECG, Holter monitoring, exercise stress testing, transthoracic echocardiography, and cardiac magnetic resonance (CMR).
  • The proband presented with severe systolic dysfunction (LVEF 15%), septal late gadolinium enhancement on CMR, and experienced a shock-terminated malignant ventricular arrhythmia requiring CRT-D therapy.
  • Both asymptomatic sons had preserved LVEF and unremarkable findings on standard ECG, Holter, and echocardiography, but CMR revealed non-ischemic intramural myocardial fibrosis.
  • Based on a low estimated 5-year ventricular tachyarrhythmia risk score (<10%), prophylactic defibrillator implantation was deferred in the sons in favor of implantable loop recorders and low-dose beta-blocker therapy.

Study Design

Type

Case Report (n=3)

Structured PICO

P
Population
Three male family members (a 70-year-old proband and his two sons aged 34 and 37) carrying a heterozygous LMNA variant.
E
Exposure
Implantation of loop recorders and initiation of low-dose beta-blocker in asymptomatic carriers; ICD/CRT-D in the proband.

In asymptomatic LMNA mutation carriers, early electrical manifestations and myocardial fibrosis may precede overt systolic dysfunction, highlighting the value of CMR and prolonged rhythm monitoring for risk stratification.

Cite This Study

Frangione et al. (2026) conducted a case report in LMNA-related dilated cardiomyopathy (n=3). Heterozygous LMNA variant was evaluated. In three male family members with a heterozygous LMNA variant, early electrical manifestations and myocardial fibrosis preceded overt systolic dysfunction.

synapsesocial.com/papers/6aa9016aeed42882c1fc180bhttps://doi.org/10.1093/eurheartjsupp/suag058.215
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Genetic and Phenotypic Analysis of Dilated Cardiomyopathy with Conduction System Disease: Demand for Strategies in the Management of Presymptomatic Lamin A/C Mutant Carriers2006 · 40 citations
  2. 2Clinical Features of LMNA-Related Cardiomyopathy in 18 Patients and Characterization of Two Novel Variants2021 · 20 citations
  3. 3PO87 Uncovering the LMNA mutation behind a 2:1 atrioventricular block2026
  4. 4External Validation of Risk Factors for Malignant Ventricular Arrhythmias in Lamin A/C Mutation Carriers2019 · 22 citations
  5. 5RING–LIKE LGE IN NON–DILATED LEFT VENTRICULAR CARDIOMYOPATHY: IMAGING–GENETIC INTEGRATION FOR EARLY ARRHYTHMIC RISK STRATIFICATION2026