Founder mutations in the Netherlands: familial idiopathic ventricular fibrillation and DPP6.
Summary of "Founder mutations in the Netherlands: familial idiopathic ventricular fibrillation and DPP6."
In this part of a series on founder mutations in the Netherlands, we review familial idiopathic ventricular fibrillation linked to the DPP6 gene. Familial idiopathic ventricular fibrillation determines an intriguing subset of the inheritable arrhythmia syndromes as there is no recognisable phenotype during cardiological investigation other than ventricular arrhythmias highly associated with sudden cardiac death. Until recently, it was impossible to identify presymptomatic family members at risk for fatal events. We uncovered several genealogically linked families affected by numerous sudden cardiac deaths over the past centuries, attributed to familial idiopathic ventricular fibrillation. Notably, ventricular fibrillation in these families was provoked by very short coupled monomorphic extrasystoles. We were able to associate their phenotype of lethal arrhythmic events with a haplotype harbouring the DPP6 gene. While this gene has not earlier been related to cardiac arrhythmias, we are now able, for the first time, to identify and to offer timely treatment to presymptomatic family members at risk for future fatal events solely by genetic analysis. Therefore, when there is a familial history of unexplained sudden cardiac deaths, a link to the DPP6 gene may be explored as it may enable risk evaluation of the remaining family members. In addition, when closely coupled extrasystoles initiate ventricular fibrillation in the absence of other identifiable causes, a link to the DPP6 gene should be suspected.
Affiliation
Department of Cardiology and Heart Failure Research Center, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Journal Details
This article was published in the following journal.
Name: Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation
ISSN: 1876-6250
Pages:
Links
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/21512816
- DOI: http://dx.doi.org/10.1007/s12471-011-0102-8
Medical and Biotech [MESH] Definitions
Ventricular Fibrillation
A potentially lethal cardiac arrhythmia that is characterized by uncoordinated extremely rapid firing of electrical impulses (400-600/min) in HEART VENTRICLES. Such asynchronous ventricular quivering or fibrillation prevents any effective cardiac output and results in unconsciousness (SYNCOPE). It is one of the major electrocardiographic patterns seen with CARDIAC ARREST.
Ventricular Flutter
A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance. If untreated, ventricular flutter typically progresses to VENTRICULAR FIBRILLATION.
Brugada Syndrome
An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads V1-V3 on the ELECTROCARDIOGRAM resembling a right BUNDLE-BRANCH BLOCK; high risk of VENTRICULAR TACHYCARDIA; or VENTRICULAR FIBRILLATION; SYNCOPAL EPISODE; and possible sudden death. This syndrome is linked to mutations of gene encoding the cardiac SODIUM CHANNEL alpha subunit.
Defibrillators, Implantable
Implantable devices which continuously monitor the electrical activity of the heart and automatically detect and terminate ventricular tachycardia (TACHYCARDIA, VENTRICULAR) and VENTRICULAR FIBRILLATION. They consist of an impulse generator, batteries, and electrodes.
Ventricular Myosins
Isoforms of MYOSIN TYPE II, specifically found in the ventricular muscle of the HEART. Defects in the genes encoding ventricular myosins result in FAMILIAL HYPERTROPHIC CARDIOMYOPATHY.
PubMed Articles
Idiopathic Ventricular Fibrillation Controlled Successfully With Phenytoin.
Idiopathic Ventricular Fibrillation. We describe a case of an individual with idiopathic ventricular fibrillation whose arrhythmias were successfully controlled with phenytoin therapy. (J Cardiovasc E...
BACKGROUND: About 2-7% of familial cardiomyopathy cases are caused by a mutation in the gene encoding cardiac troponin I (TNNI3). The related clinical phenotype is usually severe with early onset. Her...
BACKGROUND: Desmin-related myopathy (DRM) is an autosomally inherited skeletal and cardiac myopathy, mainly caused by dominant mutations in the desmin gene (DES). We describe new...
This study evaluated the pause-dependency of the J-wave to characterize this phenomenon in idiopathic ventricular fibrillation (VF).
Expression of Dpp6 in mouse embryonic craniofacial development.
Dipeptidyl-peptidase-like protein 6 (DPP6), a member of the dipeptidyl aminopeptidase family, plays distinct roles in brain development, but its expression in embryonic craniofacial development is unk...
Clinical Trials
Clinical Outcomes in Hereditary Cancer
Compare the clinical characteristics and post-surgical outcomes (overall survival)of pancreatic cancer patients of Ashkenazi descent with or without germline founder mutations in BRCA1 or...
MINERVA: MINimizE Right Ventricular Pacing to Prevent Atrial Fibrillation and Heart Failure
The aim of this study is to test the impact of the managed ventricular pacing (MVP) mode and atrial preventive and antitachycardia pacing therapies on the reduction of a composite clinical...
This trial has the primary goal to show that BAY 68-4986 can lower the ventricular rate in patients with the indication persistent atrial fibrillation.
This study will look at the correlation between ventricular rate regulation (VRR) and the percentage of biventricular pacing as well as subjective quality of life and level of physical abi...
This study is designed to examine the impact of an available technology within an automated external defibrillator (AEDs) to improve survival following out-of-hospital cardiac arrest for p...
