Multifocal ectopic Purkinje-related premature contractions: Sorting the wheat from the chaff

Even in the modern age, new diseases continue to be reported. Some – for example, infectious disorders – are caused by previously undetected or unknown noxious agents or pathogens, but others are discovered by careful clinical observation and pattern recognition; the new entity of multifocal ectopic Purkinje-related premature contractions (MEPPC) caused by mutations in the gene SCN5A is one such condition

Sudden cardiac death in inherited cardiomyopathy

Cardiomyopathy is an important cause of sudden cardiac death particularly in adolescents and young adults. The risk of sudden cardiac death varies between individual cardiomyopathies and is dependent on the severity of disease, age and gender. Although rare in cardiomyopathies, a fundamental aspect of clinical management is a systematic and thorough clinical assessment to identify the small number of individuals who are at risk and who can be protected with prophylactic ICD therapy

Risk Stratification for Sudden Cardiac Death in Non-Ischaemic Dilated Cardiomyopathy

PURPOSE OF REVIEW Non-ischaemic dilated cardiomyopathy (DCM) occurs in 1 in 2500 individuals in the general population and is associated with considerable morbidity and mortality. Studies involving large numbers of unselected DCM patients have led to consensus guidelines recommending implantable cardioverter-defibrillator (ICD) implantation for protection against sudden cardiac death (SCD) in those with LVEF ≤35%. The purpose of this article is to review the literature for other potential markers including serological, electrocardiographic, echocardiographic, cardiac magnetic resonance, ambulatory ECG and genetic data, to highlight other potential markers that may optimise risk stratification for SCD in this cohort and thereby allow a more personalized approach to ICD-implantation. RECENT FINDINGS Recent studies including the Danish study to assess the efficacy of ICDs in patients with non-ischemic systolic heart failure on mortality (DANISH) trial have questioned the benefits of ICD implantation in this group of patients with no changes in all-cause mortality. Recent pooled cohorts of patients with genetic DCM and in particular in those with Lamin A/C (LMNA) mutations have identified patients at increased risk of SCD and allowed the creation of algorithms to prognosticate SCD risk in mutation carriers. Furthermore, genetic testing has identified other DCM-causing genes including filamin C (FLNC) and RBM20 which may be associated with higher rates of ventricular arrhythmia. SUMMARY To date, risk-stratification for SCD has been hampered by the utilisation of heterogenous subsets of idiopathic DCM patients and by use of static risk models where predictions are based on a single time point with a lack of consideration of disease progression. The current focus of personalised risk-stratification for SCD is shifting towards better characterisation of underlying DCM aetiology and the development of multi-parametric risk-stratification models that incorporate time-dependent disease characteristics and novel biomarkers

Transforming care for rare and inherited cardiovascular diseases through education and training

The European Union defines a rare disease as a condition that affects less than 5 in 10,000 of the general population. By this definition, there are between 6000 and 8000 known rare disorders that together affect 1 in 17 Europeans. For this reason, rare disorders are the subject of intense scrutiny by governments and healthcare organisations that are developing new systems for clinical care, research and patient involvement

Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy

Background-Although studies have suggested that "late-onset" hypertrophic cardiomyopathy (HCM) may be caused by sarcomeric protein gene mutations, the cause of HCM in the majority of patients is unknown. This study determined the prevalence of a potentially treatable cause of hypertrophy, Anderson-Fabry disease, in a HCM referral population.Methods and Results-Plasma alpha-galactosidase A (alpha-Gal) was measured in 79 men with HCM who were diagnosed at greater than or equal to40 years of age (52.9 +/- 7.7 years; range, 40-71 years) and in 74 men who were diagnosed at <40 years (25.9 +/- 9.2 years; range, 8-39 years). Five patients (6.3%) with late-onset disease and 1 patient (1.4%) diagnosed at <40 years had low alpha-Gal activity. Of these 6 patients, 3 had angina, 4 were in New York Heart Association class 2, 5 had palpitations, and 2 had a history of syncope. Hypertrophy was concentric in 5 patients and asymmetric in 1 patient. One patient had left ventricular outflow tract obstruction. All patients with low alpha-Gal activity had alpha-Gal gene mutations.Conclusion-Anderson-Fabry disease should be considered in all cases of unexplained hypertrophy. Its recognition is important given the advent of specific replacement enzyme therapy