Faculty Bibliography

PURPOSE OF REVIEW: In this article, we will review the appropriate use of genetic testing in those patients suspected to have inherited arrhythmogenic diseases, with specific focus on the indications for testing and the expected probability of positive genotyping. RECENT FINDINGS: Important advances have been made in the identification of new genes, associated mutations, and polymorphisms that modulate susceptibility of acquired arrhythmias. We will examine the most recent advances relevant to the rational application of genetic analysis, guided by genotype-phenotype correlations derived from disease and patient-specific evaluation, as well as discussing novel technologies and recently published cost-effectiveness data. SUMMARY: Genetic analysis can be performed to identify the molecular substrate in those patients suspected to be affected by an inherited arrhythmogenic disease; however, the clinical usefulness of this information is often not straightforward. We hope to emphasize the concept that there is a significant difference in the impact of genetic testing within the various arrhythmogenic disorders, and the benefit of accessing genetic testing is not the same in all patients. The resultant integration between the expected yield of genetic screening and cost may allow the formation of criteria to prioritize access for those who could derive the most clinical benefit

AIMS: Heart failure (HF) patients increasingly receive device therapy, either an implantable cardioverter defibrillator (ICD) or a biventricular pacemaker, also called cardiac resynchronization therapy (CRT), or a CRT device with an ICD (CRT-D). However, epidemiological data on the use of device therapy in Europe are limited. METHODS AND RESULTS: Data on implantation rates for conventional pacemakers, ICD, CRT, and CRT-D in 15 Western European countries were obtained from the Eucomed Registry for the 5-year period 2004-2008. Implantation of conventional pacemakers increased by 9% in Europe over the 5 years (reaching 907/million in 2008) and there were significant differences between countries. Implantable cardioverter defibrillator implantations increased by 75% from 80/million in 2004 to 140/million in 2008, and differences between countries were larger than those for conventional pacemakers. Implantation rates for CRT-P alone increased slightly from 2004 to 2006, but remained at 25/million thereafter in Europe overall. The total number of CRT implants (CRT-P and -D) markedly increased from 46/million in 2004 to 99/million in 2008 (115%), but this was mainly due to more CRT-D implants, i.e. an increase in the proportion of CRT-D (from 55% in 2004 to 75% in 2008). Implantation rates for ICD, CRT, and CRT-D remained markedly different throughout the study period between countries. CONCLUSION: Implantation rates of devices for HF, in particular ICD and CRT-D, have increased significantly between 2004 and 2008 in Europe, but there remain major differences between countries

Three decades of ongoing research into the identification of genes responsible for both cardiomyopathies and ion channel diseases has facilitated a progressive understanding of the pathophysiology of inherited arrhythmogenic diseases. Recent discoveries in the area of genetics promise to significantly change the current clinical practice of cardiology, as rapid advances in technology and a coincident reduction of costs associated with sequencing have pushed the 'translation' of genomic information from bench to bedside. In turn, clinicians have at their disposal new tools for more accurate diagnosis of diseases, as well as for better calculation of health risks for affected families. It is clear, however, that the integration of genetic analysis into frontline clinical cardiology has not yet occurred, especially for heritable cardiomyopathic processes; no one simplified method exists for diagnosing these complex cardiac disease states. It therefore is important to assess the present and future roles of genetic analysis and counseling in clinical practice and how to assist the transition of genetic screening into current care to ensure the appropriate practical use of genetic tests in the routine clinical setting. The purpose of this discussion is to provide a concise review of recent developments in the field of heritable cardiomyopathies, with specific regard to genetic testing and genetic counseling