Disturbances of the heart's atrioventricular conduction - AV-block - may show by shortness of
breath, fainting or sudden death. If AV-block is diagnosed in time pacemaker therapy may be
AV-block in younger can be seen along with structural or ischemic heart disease, congenital
heart disease (incl. congenital AV-block) storage disorders, specific muscle diseases,
sarcoidosis, Borrelia infection or drug intoxication. AV-block in younger can also be seen in
conditions, primarily localized to the AV-node without other cardiac disease at diagnosis.
This form of AV-block is often hereditary and can be seen in families where relatives have
another types of heart disease in form of fore example, cardiomyopathy, ion channel disease
or sudden death. The different forms of presentation are due to the same gene mutation being
expressed differently within the same family. Thus, early onset of AV-block (<50 years) may
indicate hereditary AV-conduction disorder but it can also be the first manifestation of
severe ion channel disease or cardiomyopathy.
Denmark has annually over 50 individuals <50 years treated with pacemaker due to advanced
AV-block. There have been no overall figures regarding the causes of advanced AV-block, and
therefore no systematic approach to diagnosing this group of patients. Furthermore, the
prevalence of individuals with a genetic cause of AV-block is unknown and presumably an often
overlooked diagnosis among younger patients with advanced AV-blok. There are no data on
disease progression after diagnosis, and therefore there is no evidence-based knowledge about
how these patients should be followed after diagnosis.
With modern gene technology, a range of new, yet unknown genes with potentially pathogenic
mutations is likely to be identified. Identification of such genes, and the development of a
strategy for systematic approach to diagnose younger patients with AV-block, will enable
presymptomatic genetic screening of relatives and implementation of evidence-based,
preventive treatment with pacemaker and/or medical treatment for heart failure based on a
specific genetic predisposition for development of AV-block with or without heart failure.
In a significant proportion of younger patients with advanced AV-block the underlying cause
To investigate the prevalence and causes of advanced AV-block in younger patients in Denmark
and describe the current diagnostics.
The study is a cross sectional study. The patients for this study are identified from Danish
Pacemaker and ICD Register. The investigators will review medical records and obtain clinical
information and test results (see detailed description).
This study is the first part of a large study of AV-block in younger patients in Denmark. The
overall goal, is to increase knowledge about the causes of and disease progression after the
diagnosis of advanced AV-block in young patients which could lead to a significant
improvement in the treatment of this patient group and may lead to a customized choice of
pacemaker type in the future and perhaps additional medical treatment in this patient group.
This could potentially lead to a reduction in both their morbidity mortality.