The role of ILR monitoring in patients with a family history of SADS, a view from real clinical practice

Background/Introduction Implantable Loop Recorder (ILR) device monitoring is an established method for long term heart rhythm monitoring in patients with inherited cardiac conditions. Many present with a family history of Sudden Arrhythmic Death Syndrome (SADS). The value of ILR findings in the investigation of SADS relatives has not been well documented. Purpose We aimed to evaluate the impact of ILR monitoring on the management plans of patients with a family history of SADS. Methods We performed a retrospective analysis of the ILR reports and electronic patient records of all patients at the inherited cardiac disease clinic with a family history of SADS and an ILR implanted. Patient demographics, ILR implant indication and specific changes to management plans were recorded and analysed using descriptive statistics. Results All 135 patients with ILR monitoring at the inherited cardiac disease clinic were screened and 87 patients (57.6% female, 41.7±14.0 years) with SADS relatives were included in the study. The mean follow up period was 657.9±392.3 days from ILR implant. Indications for ILR implantation included syncope (n=31, 15.7%), presyncope (45, 22.7%), palpitations (44, 22.2%), chest pain (9, 4.5%), short term heart rhythm monitor findings (6, 3.0%), ECG findings (6, 3.0%), asymptomatic indications (10, (5.1%) including patients with more than one relative with SADS, a family history of conduction disease or family history of long QT syndrome), and atypical symptoms (2 (1%) including seizures and sleep paralysis). Some patients had more than one indication for ILR at the time of implant. As a direct result of ILR monitoring, 43 (49.4%) patients had a change to their management plan. 6 specific definitions for management changes were used: Permanent pacemaker implantation (2, 2.3%), subsequent electrophysiology study (3, 3.5%), medication change (7, 8.1%), arrhythmia excluded as a cause for patient symptoms (26, 29.9%), prompted ILR implant in first degree relative (11, 12.6%) and ILR re-implant for further monitoring for premature conduction disease (1, 1.2%). Patients whose indication for ILR implant was palpitations had the highest likelihood for change of management with 27 changes associated with this indication, of which exclusion of arrhythmia as a cause for symptoms (15) was the most frequent outcome. The indications, syncope and presyncope both yield 21 management changes each. Conclusion The use of ILR devices in family relatives of patients with SADS provides information that may directly impact on patient management, with syncope providing the highest yield and reassurance the most common outcome in our cohort. ILR monitoring helped guide a wide range of other management strategies which included changes to medications and the need for further cardiac procedures. This data represented clinical practice in a niche patient cohort who are at risk for inherited cardiac conditions and associated arrhythmias. FUNDunding Acknowledgement Type of funding sources: None. Indication for ILR vs management change Indications for ILR implant

Patient & public involvement for inherited cardiac conditions

Funding Acknowledgements National Institute for Health Research OnBehalf King"s Health Partners Patient & Public Involvement for Inherited Cardiac Conditions (PPIICC) group Background Inherited Cardiac Conditions (ICCs) affect up to 1:200 of the population and is the leading cause of sudden death in the under 40s. Research into developing interventions to support patients as they adjust to their diagnosis and genetic carrier status is underway; an example of which is the Psychoeducational Intervention Supporting patients with an ICC (PISICC) study. To ensure the appropriateness, acceptability and applicability of the intervention, patients and the public were involved in the development of PISICC intervention. Purpose To ensure the relevance and improve the quality of the PISICC study, Patient & Public Involvement for Inherited Cardiac Conditions (PPIICC) group was organised to guide the research project as this progressed through the three phases of the Medical Research Council framework for developing complex interventions. Methods Utilising INVOLVE guidelines, the PPIICC group was initiated by the researcher by inviting patients and families attending a local ICC clinic, members of the patient support group, Cardiomyopathy UK; and members of the existing PPI group of the local biomedical research centre. Ground rules, terms of engagement and provisions for meetings such as rooms, reimbursements for transport costs, childcare and compensation for time was established. The PPIICC group met up to three times per year within a three-year period with electronic exchanges in between. Members gave individual feedback to draft study materials and their views shaped the final versions. A modified Delphi study was used for the development of the PISICC intervention model. Figure 1 illustrates the activities undertaken by the group. Results The involvement of the PPIICC group throughout the development of the PISICC intervention model has contributed to the successful recruitment of 32 participants and completion of the qualitative study in Phase 1. In Phase 2 the group had a crucial role in ensuring that the education component of the PISICC intervention included advice on medication and physical activity; and for the group component of the intervention to include a mixed age group to enable sharing of varied experiences. In planning for Phase 3, the PPIICC group helped ensure that the trial processes for the planned feasibility study were not burdensome to participants which supported its full ethical approval by the UK Health Research Authority. Conclusions Patients and their families played an important role in designing the PISICC study. So far, their involvement has resulted in reaching recruitment targets for Phase 1 of the study, the development of a patient-informed psychoeducational intervention model and feasibility study protocol.

Congenital heart disease and inherited cardiac conditions

‘Congenital heart disease’ is a term used to cover a wide range of cardiac conditions that result from an abnormality of cardiac structure or function present at birth. The majority of children with congenital heart disease are managed in specialist paediatric centres. Not all will require further treatment as they grow older, but if they do the importance of a smooth transition to adult services is important. Some patients will be cared for in specialist units that cater for adults with congenital heart disease (ACHD), whereas others may not. Most cardiac nurses working in the cardiac arena can be expected to care for adult patients with congenital heart disease at some time in their career. They might also care for patients who present for the first time in adulthood with inherited disorders that have significant cardiovascular problems. The focus of this chapter is to highlight some of the issues that ACHD patients might present with in cardiac areas that do not specialize in ACHD.