Introduction This document does not address the indications

Introduction This document does not address the indications of genetic testing in patients affected by inherited arrhythmias and their family members. Diagnostic, prognostic, and therapeutic implications of the results of genetic testing also are not included in this document because this topic has been covered by a recent publication [1] coauthored by some of the contributors of this consensus document, and it remains the reference text on this topic. Guidance for the evaluation of patients with idiopathic ventricular fibrillation, sudden arrhythmic death syndrome and sudden unexplained death in infancy, which includes genetic testing, are provided as these topics were not covered in the previous consensus statement. Developing guidance for genetic diseases requires SGI-1776 manufacturer of the methodology adopted to prepare guidelines for clinical practice. Documents produced by other medical societies have acknowledged the need to define the criteria used to rank the strength of recommendation for genetic diseases [2].
Long QT Syndrome (LQTS)
Brugada Syndrome (BrS)
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
Short QT Syndrome (SQTS)
Early Repolarization (ER)
Progressive Cardiac Conduction Disease (PCCD)
Unexplained Cardiac Arrest: Idiopathic VF
Unexplained Sudden Cardiac Death: Sudden Unexplained Death Syndrome (SUDS) and Sudden Unexplained Death in Infancy (SUDI)
Inherited Arrhythmia Clinics
The evaluation and treatment of families suspected of having inherited arrhythmias requires a multidisciplinary team and approach. The presentation often is that of a proband or family member who has experienced a life-threatening arrhythmia, sudden cardiac arrest or SCD. In the usual circumstance, there are profound and far-reaching medical and psychosocial implications of both presentation of the inherited arrhythmia and genetic testing on patients and families [1,2] The presence of an inherited arrhythmia or a positive genetic test can dramatically change the life of a patient and questions related to transmissibility of disease to one’s children, participation in athletics, insurability and prohibited types of employment are among the common questions patients and families face. Perhaps the most important role of the inherited arrhythmia clinic in the case of the sudden death of a proband is to provide support, expert evaluation, advice and treatment to surviving family members. Recent evidence suggests that a structured inherited arrhythmia (or inherited cardiovascular disease) clinic improves the likelihood of making a diagnosis in suspected cases of inherited arrhythmias and SCD [196,209,224–227]. The promise of an appropriately resourced, structured clinic is that of a comprehensive evaluation of patients and families, more efficient use of diagnostic testing and therapy and ready access to a broad range of medical, genetics and psychosocial expertise in managing families afflicted by inherited arrhythmias. An inherited cardiovascular disease clinic is an invaluable resource to patients and families, not only at the time of the initial evaluation but in an ongoing fashion as medical, genetic and social questions relevant to the inherited heart disease arise. There are different operational models for inherited arrhythmia clinics; the choice may be determined by the health system or the regulations that exist in a given country. However, the linchpins of a successful inherited heart disease clinic include not only medical, nursing and genetics proficiency but a dedicated staff with operational and logistic expertise who have ready access to all team members. Each member of the team has a key role to play in the optimal evaluation of families suspected of having inherited arrhythmias. The personnel and workflow in an ideal inherited arrhythmia clinic are illustrated in the schematic in Fig. 4. The key personnel include a clinic coordinator who is responsible for patient intake, collection and collation of medical records, scheduling appointments for patients and family members and assisting with questions relating to insurance coverage. The initial evaluation of patients and family members may be performed by a nurse specialist and genetics counselor [228]. This requires not only review of medical records but also pedigree development, collection and collation of medical testing such as imaging studies, pathological specimens, autopsy reports and results of previously performed genetic testing. In the ideal situation, the results of testing on the patient or family members are reviewed by the physicians, nurses and counselors prior to the clinic visit. The physicians are typically a clinical cardiologist/electrophysiologist with expertise in inherited arrhythmias and medical genetics or a medical geneticist with an interest in cardiac arrhythmias partnering with a clinical electrophysiologist. In some countries, only a geneticist is permitted to order and/or discuss genetic test results with patients. It is important to bear in mind that many presentations that suggest an inherited arrhythmia may be the result of acquired disease or an inherited cardiomyopathy. If the inherited arrhythmia clinic is part of a larger program in inherited heart disease, experts in cardiomyopathy will likely be available; otherwise access to such experts is essential. The team of physicians will perform the general medical evaluation of the patient, review of the records, interpretation of test results and development of diagnostic and identify the treatment plans. In some cases evaluation of a family includes postmortem review of a family member and the opinion of a cardiac pathologist often is useful in making the proper diagnosis.