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Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified October 2003 by Heidelberg University.
Recruitment status was:  Recruiting
Information provided by:
Heidelberg University Identifier:
First received: September 14, 2005
Last updated: January 12, 2010
Last verified: October 2003
The aim of this study is the identification of familial congenital arrhythmogenic disorders and their clinical follow-up.

Long QT Syndrome Hypertrophic Cardiomyopathy Arrhythmogenic Right Ventricular Dysplasia

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases

Resource links provided by NLM:

Further study details as provided by Heidelberg University:

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

Estimated Enrollment: 300
Study Start Date: October 2003
Estimated Study Completion Date: December 2011
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.


Ages Eligible for Study:   Child, Adult, Senior
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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00221832

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

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
Study Director: Martin Borggrefe, Prof., MD I. Department of Medicine-Cardiology
  More Information

Responsible Party: Prof. C. Wolpert, I. Department of Medicine-Cardiology, University Hospital Mannheim, . Department of Medicine-Cardiology, University Hospital Mannheim Identifier: NCT00221832     History of Changes
Other Study ID Numbers: 0261.5
Study First Received: September 14, 2005
Last Updated: January 12, 2010

Keywords provided by Heidelberg University:
Long QT Syndrome
Hypertrophic cardiomyopathy
arrhythmogenic right ventricular dysplasia
Short QT Syndrome
Brugada Syndrome

Additional relevant MeSH terms:
Long QT Syndrome
Cardiomyopathy, Hypertrophic
Arrhythmogenic Right Ventricular Dysplasia
Pathologic Processes
Heart Diseases
Cardiovascular Diseases
Pathological Conditions, Anatomical
Aortic Stenosis, Subvalvular
Aortic Valve Stenosis
Heart Valve Diseases
Arrhythmias, Cardiac
Heart Defects, Congenital
Cardiovascular Abnormalities
Congenital Abnormalities processed this record on September 19, 2017