Genetic Predictors of Outcome in HCM Patients



Status:Active, not recruiting
Conditions:High Cholesterol, Cardiology, Orthopedic
Therapuetic Areas:Cardiology / Vascular Diseases, Orthopedics / Podiatry
Healthy:No
Age Range:18 - Any
Updated:1/6/2018
Start Date:July 2005
End Date:May 2020

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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.

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.

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
We found this trial at
1
site
Pittsburgh, Pennsylvania 15213
Principal Investigator: Samir F. Saba, MD
Phone: 412-864-1420
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Pittsburgh, PA
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