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

Abstract

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. 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. 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%). 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.