Late gadolinium enhancement role in arrhythmic risk stratification of patients with LMNA cardiomyopathy: results from a long-term follow-up multicentre study

Europace. 2020 Dec 23;22(12):1864-1872. doi: 10.1093/europace/euaa171.

Abstract

Aims: We aimed at addressing the role of late gadolinium enhancement (LGE) in arrhythmic risk stratification of LMNA-associated cardiomyopathy (CMP).

Methods and results: We present data from a multicentre national cohort of patients with LMNA mutations. Of 164 screened cases, we finally enrolled patients with baseline cardiac magnetic resonance (CMR) including LGE sequences [n = 41, age 35 ± 17 years, 51% males, mean left ventricular ejection fraction (LVEF) by echocardiogram 56%]. The primary endpoint of the study was follow-up (FU) occurrence of malignant ventricular arrhythmias [MVA, including sustained ventricular tachycardia (VT), ventricular fibrillation, and appropriate implantable cardioverter-defibrillator (ICD) therapy]. At baseline CMR, 25 subjects (61%) had LGE, with non-ischaemic pattern in all of the cases. Overall, 23 patients (56%) underwent ICD implant. By 10 ± 3 years FU, eight patients (20%) experienced MVA, consisting of appropriate ICD shocks in all of the cases. In particular, the occurrence of MVA in LGE+ vs. LGE- groups was 8/25 vs. 0/16 (P = 0.014). Of note, no significant differences between LGE+ and LGE- patients were found in currently recognized risk factors for sudden cardiac death (male gender, non-missense mutations, baseline LVEF <45% and non-sustained VT), all P-value >0.05.

Conclusions: In LMNA-CMP patients, LGE at baseline CMR is significantly associated with MVA. In particular, as suggested by this preliminary experience, the absence of LGE allowed to rule-out MVA at 10 years mean FU.

Keywords: Cardiac magnetic resonance; Cardiomyopathy; LMNA mutation; Late gadolinium enhancement; Risk stratification; Sudden cardiac death; Ventricular arrhythmias.

Publication types

  • Multicenter Study

MeSH terms

  • Adolescent
  • Adult
  • Cardiomyopathies* / diagnostic imaging
  • Cardiomyopathies* / genetics
  • Contrast Media
  • Defibrillators, Implantable*
  • Female
  • Follow-Up Studies
  • Gadolinium
  • Humans
  • Lamin Type A / genetics
  • Male
  • Middle Aged
  • Predictive Value of Tests
  • Risk Assessment
  • Risk Factors
  • Stroke Volume
  • Ventricular Function, Left
  • Young Adult

Substances

  • Contrast Media
  • LMNA protein, human
  • Lamin Type A
  • Gadolinium