Pediatric Cardiomyopathy Mutation Analysis

Indiana University

Status: Enrolling

Conditions: Arrhythmogenic Right Ventricular Cardiomyopathy; Restrictive Cardiomyopathy; Cardiomyopathies; Left Ventricular Non-compaction Cardiomyopathy; Hypertrophic Cardiomyopathy; Dilated Cardiomyopathy

Study type: Observational

Funder types: Other

Identifiers

NCT02432092

1403919054

Details and patient eligibility

About

The goal of this protocol is to obtain information from individuals with cardiomyopathy and from their families in order to elucidate the molecular genetics of this disorder. This will provide the basis for future genetic counseling as well as contribute to elucidating the biology of normal and abnormal cardiac function.

Full description

Cardiomyopathy is a genetically heterogeneous heart muscle disorder that results in ventricular dysfunction. While significant progress has been made in identifying the genetic basis of cardiomyopathy in adults, molecular diagnosis in children has proven more challenging and current algorithms do not incorporate mutation analysis in the clinical protocol. However, recent studies indicate that cardiomyopathy outcomes in children are origin specific, highlighting the importance of precise diagnosis. The goal of this study is to identify the genetic causes of pediatric cardiomyopathy. Rapid, comprehensive and cost-effective detection of genetic causes of cardiomyopathy will aid management and development of novel treatment strategies.

Enrollment: 300 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Subjects with cardiomyopathy
• Family members of subjects with cardiomyopathy

Exclusion criteria

• Subjects without cardiomyopathy
• Family members of subjects without cardiomyopathy

Trial design

300 participants in 2 patient groups

Affected

Description:

participants with cardiomyopathy

Family Members of affected

Description:

Family members of participants with cardiomyopathy (can be affected or unaffected)