Principal Investigator: Omar Wever-Pinzon
Keywords: Dilated Cardiomyopathy , Genetics Department: Cardiovascular Medicine
IRB Number: 00118947
Specialty: Cardiology
Sub Specialties: Heart Failure
Recruitment Status: Not yet recruiting

Contact Information

Mija Wall
mija.wall@hsc.utah.edu
801-5852904

Brief Summary

The goals of the Dilated Cardiomyopathy (DCM) Research Project are to identify genetic causes of DCM and related conditions, to better understand mechanisms of and the population-based effects of variants in cardiovascular genes, as well as to evaluate the clinical presentation and phenotype over time in affected and at-risk subjects.

As of June 2018, the DCM Research Project sponsors 3 sub-studies, 2 of which the University of Utah site is participating in:

- DCM Precision Medicine Study: The purpose of this study is to identify gene changes that cause DCM and gene differences that influence the development and severity of DCM. These genetic studies may identify a change in a gene that has already been linked with DCM, a change in a gene not previously associated with DCM, or these studies may identify a gene or genes that affect the development and severity of the DCM. With this knowledge the study hopes to better understand how genes and gene changes cause DCM.

- Discovery Study: The purpose of this study is to understand the genetics of dilated cardiomyopathy (DCM) and related cardiac conditions by studying genetic material and tissue from individuals with these conditions and their family members with or without heart disease. The aim is to identify genetic changes that cause DCM and related conditions, including gene differences that influence development and severity.

Aim 1. Clinically evaluate (phenotype) patients with suspected or confirmed genetic cardiovascular disease and their family members.

Aim 2. Identify genetic variation responsible for cardiovascular disease.

Aim 3. Determine the frequency and impact of genetic variants known to cause cardiovascular disease in populations of patients manifesting the phenotype of interest.

Aim 4. Evaluate psychosocial issues relevant to genetic DCM.

Aim 5. Determine the frequency and character of idiopathic DCM, whether familial or non-familial in European and African ancestry and Hispanic ethnicity.

Inclusion Criteria

DCM Precision Medicine Study

DCM Precision Medicine Study Proband Inclusion Criteria. Probands enrolled will meet all of the following criteria:

  • Meeting criteria for dilated cardiomyopathy (DCM)
    • Left ventricular ejection fraction <50%
    • Left ventricular enlargement (echo-derived left ventricular end-diastolic dimension ,LVEDD, ≥ 95th percentile for gender/height)30
  • Idiopathic DCM, that is, detectable causes of cardiomyopathy, except genetic, excluded beyond a reasonable doubt at the time of DCM diagnosis
    • Meeting criteria for idiopathic dilated cardiomyopathy (IDC) means reaching a rigorous clinical standard-of-diagnosis, congruent with an expert approach rendered by a board-certified heart failure heart/transplant cardiologist.
  • Any age (including children)
  • Non-Hispanic and Hispanic ethnicity (PI pre-approval required for recruitment beyond pre-specified recruitment targets)
  • All races (PI pre-approval required for recruitment beyond pre-specified recruitment targets)
  • Ability to give informed consent
  • Ability to communicate in English (except Spanish language at sites approved to recruit individuals of Hispanic ethnicity)
  • Willingness to participate in a family-based study (patient willing to work with OSU).

DCM Precision Medicine Study Family Member/Spouse Eligibility Criteria

  • At-risk relative or spouse of patient diagnosed with DCM who is already enrolled in the Study
  • Affected family member(s) of patient diagnosed with DCM who is already enrolled in the Study

 

Discovery Study
Proband inclusion criteria. Probands will meet any of the following criteria:

  • DCM
  • Peripartum Cardiomyopathy (PPCM)
  • Individuals with features of DCM combined with HCM, RCM, ARVD, channelopathies, atrial fibrillation, or other suspected cardiovascular genetic phenotype
  • Cancer chemotherapy-associated DCM.
  • Idiopathic DCM and PPCM. Includes the following individuals:
    • Those enrolled at sites that are not activated for a competing study as specified by the PI, such as the Precision Medicine Study.
    • Individuals not meeting criteria for the DCM Precision Medicine Study due to lack of family member participation.
  • Ischemic DCM (Isch-DCM)
  • Cardiomyopathy Associated with Heart Failure with Preserved Ejection Fraction (CM-HFpEF)
  • Conditions that may lead to DCM. These include left ventricular non-compaction (LVNC), isolated left ventricular enlargement, and isolated low ejection fraction
  • Affected and unaffected family members of all above-mentioned individuals
  • Informative married-in spouses

**during our reliance consultation, it was discussed that our site would not be enrolling children

 

Exclusion Criteria

DCM Precision Medicine Study Proband Exclusion Criteria.

Probands with any of the following present at or prior to the time of idiopathic DCM diagnosis are excluded:

  • CAD causing ischemic cardiomyopathy (> 50% narrowing, any major epicardial coronary artery)
  • Primary valvular disease
  • Adriamycin or other cardiotoxic drug exposure
  • Other forms of cardiomyopathy: Hypertrophic, Restrictive, or Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
  • Congenital heart disease
  • Other detectable causes of dilated cardiomyopathy, including sarcoid and hemochromatosis,
  • Other active multisystem disease, even if very rare, that may plausibly cause DCM (e.g.,hypereosinophilic syndrome, cardiac involvement with connective tissue disease, Loeffler’s endocarditis, endomyocardial fibrosis, etc) are excluded. Sites are asked to call the PI to discuss if uncertain or not clear.
  • Severe and untreated or untreatable hypertension (systolic blood pressures routinely greater than 180 mm Hg and/or diastolic blood pressures greater than 120 mm Hg, and if resistant to multidrug treatment). This includes profound hypertension associated with other multisystem disease (e.g., scleroderma, other vasculitidies, etc).

Discovery Study- There are no exclusion criteria for the Discovery Sub-Study