Long ECGs reveal rich and robust dynamical regimes in patients with frequent ectopy.

We have analyzed the electrocardiographic data collected during continuous 7-day ambulatory recordings in patients with frequent premature ventricular complexes (PVCs). We analyze the dependence of the frequency and patterns of PVCs on the heart rate and the time of the day. Patients display rhythms of a complex yet consistent structure. In a given patient, the pattern remains robust over different days and particular repetitive patterns appear at specific heart rates, suggesting the appearance of bifurcations in the dynamics. Over the course of 24 h, we find that in some patients, patterns appear to depend only on the heart rate, whereas in others, both the time of the day and the heart rate play a role in controlling the dynamics. Identifying parameter values at which bifurcations occur facilitates the development of dynamical models for arrhythmia. The use of powerful recording and analysis techniques will enable improved analysis of data and better understanding of mechanisms of arrhythmia in individual patients.

Phospholamban cardiomyopathy: a Canadian perspective on a unique population.

INTRODUCTION: Phospholamban cardiomyopathy is an inherited cardiomyopathy, characterised by a defect in regulation of the sarcoplasmic reticulum Ca2+ pump, often presenting with malignant arrhythmias and progressive cardiac dysfunction occurring at a young age. METHODS: Phospholamban R14del mutation carriers and family members were identified from inherited arrhythmia clinics at 13 sites across Canada. Cardiac investigations, including electrocardiograms, Holter monitoring (premature ventricular complexes, PVCs), and imaging results were summarised. RESULTS: Fifty patients (10 families) were identified (median age 30 years, range 3-71, 46% female). Mutation carriers were more likely to be older, have low-voltage QRS, T­wave inversion, frequent PVCs, and cardiac dysfunction, compared to unaffected relatives. Increasing age, low-voltage QRS, T­wave inversion, late potentials, and frequent PVCs were predictors of cardiac dysfunction (p < 0.05 for all). Older carriers (age ≥45 years) were more likely to have disease manifestations than were their younger counterparts, with disease onset occurring at an older age in Canadian patients and their Dutch counterparts. DISCUSSION: Among Canadian patients with phospholamban cardiomyopathy, clinical manifestations resembled those of their Dutch counterparts, with increasing age a major predictor of disease manifestation. Older mutation carriers were more likely to have electrical and structural abnormalities, and may represent variable expressivity, age-dependent penetrance, or genetic heterogeneity among Canadian patients.

Evolution of a genetic diagnosis.

Understanding the relationship between genotype and phenotype has become an integral part of the diagnosis and management of patients with inherited arrhythmias and cardiomyopathies. Given the existence of background noise, the majority of genetic testing results should be incorporated into clinical decision making as probabilistic, rather than deterministic, in the diagnosis and management of inherited arrhythmias. This case report captures multiple snapshots of clinical care in the evolution of a diagnosis of a single patient, highlighting the need for repeated phenotypic and genotypic assessment for both the patient and their family.