Cardiac abnormality

Genetic defect

… found in

AF prevalence (rough estimate)

Brugada syndrome

Loss-of-function SCN5A mutations (10–15% of patients)

Familial clusters

10–20%

Long QT syndrome

Late gain-of-function SCN5A and loss-of-function K channel mutations, among others

Familial clusters

5–10%

Short QT syndrome

Gain-of-function K channel mutations

Familial clusters

70%

Catecholaminergic VT

Loss-of-function ryanodine receptor mutation

Rare families

Hypertrophic cardiomyopathy

Sarcomeric proteins

Unselected patient cohorts

5–15%

Wolff–Parkinson–White syndrome and abnormally LVH

PRKAG mutations

Family clusters

Holt–Oram syndrome with AF

TBX5 mutations (regulatory gene)

Family clusters

Type of AF

Genetic defect identified

… found in

Associated with AF in

‘Lone’ AF

Loss-of-function SCN5A mutations

‘Lone’ AF cohorts

5% of ‘lone’ AF patients

AF and heart failure

SCN5A mutation

One large family

Rare forms

‘Lone’ AF

Gain-of-function K channel mutations

Single families

Rare families, associated with short QT syndrome

‘Lone’ AF

Loss-of-function K channel polymorphisms

Large association study

Rare families, associated with long QT syndrome

‘Lone’ AF

Loss-of-function Kv1.5 mutation (I_Kur)

Selected patients

Rare patients

‘Lone’ AF

Somatic connexion 40 mutations

Unrelated patients

Not known (requires atrial tissue for testing)s

‘Lone’ AF

Frameshift (loss-of-function) ANP mutation

Familial clustering

Not known

All types of AF

PITX2 polymorphism (involved in pulmonary and cardiac development)

Genome-wide association

Populations (Iceland and elsewhere)