Arrhythmogenic cardiomyopathy is under-recognized in end-stage pediatric heart failure: A 36-year single-center experience

Pediatr Transplant. 2023 Mar;27(2):e14442. doi: 10.1111/petr.14442. Epub 2022 Nov 30.

Abstract

Background: Although ventricular failure is a late finding in adults with AC, we hypothesize that this is a presenting symptom in pediatric heart failure patients who undergo HT and that their ventricular arrhythmia burden could differentiate AC from other cardiomyopathies.

Methods: We performed a single-center retrospective cohort study reviewing 457 consecutive pediatric (≤18 years) HT recipients at our institution. Explanted hearts were examined to establish the primary diagnosis, based on pathologic findings. Demographic and clinical variables were compared between AC versus non-HCM cardiomyopathy cases.

Results: Forty-five percent (n = 205/457) had non-HCM cardiomyopathies as the underlying primary diagnosis. Ten cases (10/205 = 4.9%) were diagnosed with AC. All 10 had biventricular disease. In 8/10 patients (80%), AC diagnosis was unrecognized pre-HT. Compared with non-AC cardiomyopathies, the AC group was older at diagnosis (9.3 years vs. 4.3 years, p = .012) and transplant (11.1 years vs. 6.5 years, p = .010), had more ventricular arrhythmias (80.0% vs 32.8%, p = .003), and required more anti-arrhythmic use (80.0% vs 32.3%, p = .001). Genetic testing yielded causative pathogenic variants in all tested individuals (n = 5/5, 100%).

Conclusion: AC is often an unrecognized cardiomyopathy pretransplant in children who undergo HT. Pediatric non-HCM phenotypes with heart failure who have a significant ventricular arrhythmia burden should be investigated for AC.

Keywords: arrhythmia; arrhythmogenic cardiomyopathy; cardiomyopathy; pediatric heart transplant.

MeSH terms

  • Anti-Arrhythmia Agents
  • Arrhythmias, Cardiac / complications
  • Arrhythmias, Cardiac / diagnosis
  • Cardiomyopathies* / complications
  • Cardiomyopathies* / diagnosis
  • Cardiomyopathies* / pathology
  • Heart Failure* / complications
  • Heart Failure* / diagnosis
  • Heart Failure* / surgery
  • Humans
  • Retrospective Studies

Substances

  • Anti-Arrhythmia Agents