Scoping Review of Experience of People living with Inherited Cardiac Conditions and Congenital Heart Disease. The experience of individuals with inherited cardiac conditions and congenital heart disease and their families throughout the life course: impact, difficulties and resilience

This was a scoping review of the experiences of people with inherited cardiac conditions and congenital heart disease and their families. The Irish Heart Foundation is trying to investigate the issues which these individuals and their families might face throughout the life course. It is hoped that this scoping review will highlight current knowledge, inform potential future studies and also inform the supports provided by the IHF to people with inherited cardiac conditions and their families.

As stated, the aim of this report was to explore the experience of individuals with inherited cardiac conditions and their families throughout the life course. Due to the very limited literature available on inherited cardiac conditions (Part I), this report also explored the broader area of congenital heart disease (Part II), which has a lot more literature available. Part I of this report therefore identifies more specific detail in relation to common cardiac conditions which are inherited while Part II provides a summary of the (larger) literature available on congenital heart disease which includes inherited (Brugada syndrome, Long QT Syndrome and Progressive Cardiac Conduction Defect) and other cardiac conditions (i.e. not all congenital heart disease is inherited).

Some of the main themes which emerged as important in the literature were: Genetic testing and screening of family members, transition for younger patients, exercise/physical activity, stress and psychological adjustment of individual and their family, feeling normal, education concerning contraception and reproduction including genetic counselling, insurance and employment.

There is virtually no Irish research on inherited cardiac conditions and congenital heart disease and the literature on inherited cardiac conditions is in general limited. Many areas of interest in relation to the social consequences, psychological experiences and quality of life associated with inherited cardiac conditions could not be addressed by this review as they simply have not yet been addressed in the literature itself. These knowledge gaps highlight the need for further research in this area.

Research in this area might also be limited due to the sometimes invisible nature of these conditions. Not all inherited cardiac conditions are apparent from birth and in some cases the first symptom can actually be sudden death (1). In other cases a condition may go undiagnosed until a relative experiences symptoms or is lost to sudden cardiac death and it is only then that diagnosis is made following screening. Therefore for some, living with inherited cardiac conditions does not affect their lives at all in that they are unaware they have it.

The common inherited cardiac conditions included are also quite different and therefore studies tend to look at each individually rather than exploring the experiences of individuals with inherited cardiac conditions as a whole. The exception to this is individuals who have received implantable cardioverter defibrillators. These people are sometimes looked at as a group and therefore different inherited cardiac conditions can sometimes be combined in these studies.