Inherited Cardiac Conditions

Produced for:

UK National Screening Committee (UK NSC)

What are Inherited Cardiac Conditions?

Inherited cardiac conditions (ICCs) are heart conditions that are caused by a genetic mutation. These mutations can run in families, and can be passed on from parents to children. These conditions can cause problems with the heart muscles (cardiomyopathies) or with the electrical signals that make the heart beat rhythmically (channelopathies). They can cause heart attacks and sudden cardiac death, sometimes in young adults, but also in people at older ages. They can also cause symptoms such as light headedness, fainting, palpitations, shortness of breath, fatigue, chest pain and sometimes swelling ankles, feet, legs or stomach.

Why do we need this project?

At the time of writing, there is no formal national screening programme in place for ICC. If the condition is caught early, there are treatments such as implantable cardioverter defibrillators (which can shock the heart back into a correct rhythm and prevent a heart attack), medication and lifestyle changes that can help prevent symptoms and death.

This evidence map focusses on genetic testing, and aims to summarise how much and what type of research evidence is available relating to the penetrance of the genetic mutations, how accurate the genetic tests are, and what impact they have on people’s health in the long term. It will also look for clinical guidelines from the UK and other countries. This will support the National Screening Committee in determining the appropriate next steps for the topic in the evidence review process.

SENSS Team:

Chief Investigator: Ms Sue Harnan

Investigators: Joanna Leaviss, Beauty Igein, Yashwini Chandrawat, Mark Clowes

Links:

Protocol

NIHR Project Page

Zenodo Project Page