Hypertrophic Cardiomyopathy
Conditions
Keywords
genetic testing
Brief summary
This is a retrospective review of the data available on patients and their family members with HCM and prospective follow-up of this cohort for clinical outcome and diagnostic studies. Genetic samples are being examined in this cohort to determine whether certain to determine whether certain beta-AR polymorphisms as well as other common genetic polymorphisms are associated with different morphological features, such as LVH in patients with HCM and whether these polymorphisms influence the clinical course and outcome in patients with HCM. For that purpose, we will build a database with clinical information including serial echocardiographic measurements for patients with HCM that have regular follow up and test them for beta-AR polymorphisms as well as other common genetic polymorphisms and other known cardiac-related polymorphisms that can potentially contribute to the morphologic differences seen in patients with HCM.
Detailed description
This is a retrospective review of the data available on patients and their family members with HCM and prospective follow-up of this cohort for clinical outcome and diagnostic studies. Genetic samples are being examined in this cohort to determine whether certain to determine whether certain beta-AR polymorphisms as well as other common genetic polymorphisms are associated with different morphological features, such as LVH in patients with HCM and whether these polymorphisms influence the clinical course and outcome in patients with HCM. For that purpose, we will build a database with clinical information including serial echocardiographic measurements for patients with HCM that have regular follow up and test them for beta-AR polymorphisms as well as other common genetic polymorphisms and other known cardiac-related polymorphisms that can potentially contribute to the morphologic differences seen in patients with HCM.
Interventions
None listed
Sponsors
University of Pittsburgh
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* 18+ years of age * Diagnosed with HCM defined by the presence of left ventricular hypertrophy with minimal wall thickness \>/= 15mm without the presence of hypertension or systemic disease that can account for the degree of hypertrophy.
Exclusion criteria
* Hypertension present prior to the diagnosis of HCM * aortic stenosis with aortic valve area \< 1cm2 * known systemic disease that can cause LVH, such as infiltrative diseases * able and willing to provide informed consent
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Genetic testing | Day 1 at the time of enrollment | AR polymorphisms will be correlated to progression of LVH and clinical outcome in patients with HCM. |
Countries
United States
Outcome results
None listed