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Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00221832
Recruitment Status : Unknown
Verified October 2003 by Heidelberg University.
Recruitment status was:  Recruiting
First Posted : September 22, 2005
Last Update Posted : January 13, 2010
Information provided by:
Heidelberg University

Brief Summary:
The aim of this study is the identification of familial congenital arrhythmogenic disorders and their clinical follow-up.

Condition or disease
Long QT Syndrome Hypertrophic Cardiomyopathy Arrhythmogenic Right Ventricular Dysplasia

Detailed Description:

Molecular genetic screening in patients with:

  • supraventricular
  • ventricular arrhythmia
  • syncopes of unknown origin and/or suspicion of an arrhythmogenic origin
  • family members of patients with sudden cardiac death and aborted sudden cardiac death

Examination of patients includes routine testing like electrocardiogram (ECG), sequential ECGs, exercise testing, invasive electrophysiological stimulation, cardiac magnetic resonance imaging, intravenous drug challenge for identification/exclusion of eg Brugada syndrome. Examples are patients with Long QT Syndrome, Short QT Syndrome, Brugada Syndrome, familial atrial fibrillation, WPW-syndrome, arrhythmias due to familial hypertrophic cardiomyopathy or arrhythmogenic right ventricular dysplasia. Blood samples are taken for further molecular genetic screening.

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Study Type : Observational
Estimated Enrollment : 300 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases
Study Start Date : October 2003
Estimated Study Completion Date : December 2011

Biospecimen Retention:   Samples With DNA
no biospecimens are to be retained.

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Consecutive patient sampling with history of syncope, aborted SCD, familial sudden cardiac death, high suspicion of familial cardiac arrhythmias.

Inclusion Criteria:

  • Patients with a history of syncope, abnormal ECG and suspicion of an arrhythmogenic disease
  • Patients with long QT syndrome
  • Patients with short QT syndrome, shortened QT intervals, borderline shortened QT intervals
  • Patients with Brugada syndrome
  • Patients with hypertrophic cardiomyopathy
  • Patients with arrhythmogenic right ventricular dysplasia

Exclusion Criteria:

  • Inability to understand study protocol

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00221832

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Contact: Christian Wolpert, MD +49-621-383-2206
Contact: Rainer Schimpf, MD +49-621-383-2206

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University Hospital Mannheim, I. Department of Medicine Recruiting
Mannheim, Germany, 68167
Contact: Christian Wolpert, MD    +49-621-3832206   
Contact: Rainer Schimpf, MD    +49-621-3832206   
Principal Investigator: Christian Wolpert, MD         
Sponsors and Collaborators
Heidelberg University
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Study Director: Martin Borggrefe, Prof., MD I. Department of Medicine-Cardiology
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Responsible Party: Prof. C. Wolpert, I. Department of Medicine-Cardiology, University Hospital Mannheim, . Department of Medicine-Cardiology, University Hospital Mannheim Identifier: NCT00221832    
Other Study ID Numbers: 0261.5
First Posted: September 22, 2005    Key Record Dates
Last Update Posted: January 13, 2010
Last Verified: October 2003
Keywords provided by Heidelberg University:
Long QT Syndrome
Hypertrophic cardiomyopathy
arrhythmogenic right ventricular dysplasia
Short QT Syndrome
Brugada Syndrome
Additional relevant MeSH terms:
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Cardiomyopathy, Hypertrophic
Long QT Syndrome
Arrhythmogenic Right Ventricular Dysplasia
Pathologic Processes
Heart Diseases
Cardiovascular Diseases
Pathological Conditions, Anatomical
Aortic Stenosis, Subvalvular
Aortic Valve Stenosis
Heart Valve Diseases
Arrhythmias, Cardiac
Cardiac Conduction System Disease
Heart Defects, Congenital
Cardiovascular Abnormalities
Congenital Abnormalities