Erika Mejia1, Abigail Lynch2, Patrick Hearle2, Oluwatimilehin Okunowo3, Heather Griffis3, Maully Shah4, David Lynch5, Kimberly Y Lin4. 1. Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania. Electronic address: mejiae@email.chop.edu. 2. Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania. 3. Data Science & Biostatistics Unit, Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania. 4. Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania. 5. Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Abstract
BACKGROUND: Friedreich ataxia is the most commonly inherited ataxia; nearly 60% of deaths are cardiac in nature, with one in eight deaths due to arrhythmia. Additional or irregular heartbeats, measured as ectopy, can be quantified using portable heart rhythm monitoring. We sought to describe the ectopic burden in Friedreich ataxia. METHODS: Using a natural history study of patients with Friedreich ataxia at a single center, we analyzed portable heart rhythm monitors (Holters). Ectopic burden was defined as the proportion of atrial or ventricular ectopic beats over total beats. RESULTS: Of 456 patients, 131 had Holters. Sixty-eight (52.0%) were male, median age of symptom onset was 8.0 years (5.0 to 13.0, n = 111), median age at time of Holter was 17.3 years (interquartile range [IQR] 12.9 to 22.8, n = 129), and median duration of illness was 8.7 years (IQR 5.3 to 11.6, n = 110). Median GAA length on the shorter FXN allele was 706.0 (IQR 550.0 to 840.0, n = 112). Eight (7.8%, n = 103) had diminished cardiac function, and 74 (74.0%, n = 100) had ventricular hypertrophy. Ninety patients (83.0%) had atrial ectopy (supraventricular ectopy [SVE]): 85 (78.0%) with rare SVE (>0% to 5%) and five (5.0%) with frequent SVE (>10%). Twenty-five (19.0%) had supraventricular runs, and one (0.8%) had atrial fibrillation/flutter. Forty-five (41.0%) had ventricular ectopy (VE): 43 (39.0%) with rare VE (0% to 5%) and two (2.0%) with moderate VE (5% to 10%). Compared with patients with none and rare SVE, patients with frequent SVE had longer disease duration (18.3 versus 4.6 versus 9.0 years, P = 0.0005). CONCLUSION: Patients with longer disease duration had higher rates of SVE. Heart rhythm monitoring may be considered for risk stratification; however, longitudinal analysis is needed.
BACKGROUND: Friedreich ataxia is the most commonly inherited ataxia; nearly 60% of deaths are cardiac in nature, with one in eight deaths due to arrhythmia. Additional or irregular heartbeats, measured as ectopy, can be quantified using portable heart rhythm monitoring. We sought to describe the ectopic burden in Friedreich ataxia. METHODS: Using a natural history study of patients with Friedreich ataxia at a single center, we analyzed portable heart rhythm monitors (Holters). Ectopic burden was defined as the proportion of atrial or ventricular ectopic beats over total beats. RESULTS: Of 456 patients, 131 had Holters. Sixty-eight (52.0%) were male, median age of symptom onset was 8.0 years (5.0 to 13.0, n = 111), median age at time of Holter was 17.3 years (interquartile range [IQR] 12.9 to 22.8, n = 129), and median duration of illness was 8.7 years (IQR 5.3 to 11.6, n = 110). Median GAA length on the shorter FXN allele was 706.0 (IQR 550.0 to 840.0, n = 112). Eight (7.8%, n = 103) had diminished cardiac function, and 74 (74.0%, n = 100) had ventricular hypertrophy. Ninety patients (83.0%) had atrial ectopy (supraventricular ectopy [SVE]): 85 (78.0%) with rare SVE (>0% to 5%) and five (5.0%) with frequent SVE (>10%). Twenty-five (19.0%) had supraventricular runs, and one (0.8%) had atrial fibrillation/flutter. Forty-five (41.0%) had ventricular ectopy (VE): 43 (39.0%) with rare VE (0% to 5%) and two (2.0%) with moderate VE (5% to 10%). Compared with patients with none and rare SVE, patients with frequent SVE had longer disease duration (18.3 versus 4.6 versus 9.0 years, P = 0.0005). CONCLUSION: Patients with longer disease duration had higher rates of SVE. Heart rhythm monitoring may be considered for risk stratification; however, longitudinal analysis is needed.
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