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Prevalence of Transthyretin Cardiac Amyloidosis (ATTR-CM) Among Patients with Hypertrophic Cardiomyopathy

Title Prevalence of Transthyretin Cardiac Amyloidosis (ATTR-CM) Among Patients with Hypertrophic Cardiomyopathy
Therapeutic Area Cardiomyopathy, Transthyretin Cardiac Amyloidosis
Principal Investigator Ethan Rowin, MD
Min Age 60 Years
Gender All
Contact Daniel Higgins & Gaurav Das
617-636-4928 & gdas @


Hypertrophic Cardiomyopathy (HCM) is a genetic disease where the heart muscles become thicker because of the disease.   We use electrocardiogram, echocardiogram or cardiac magnetic resonance imaging (CMR) tests to see if someone might have HCM.  Another disease, transthyretin cardiac amyloidosis (ATTR-CM) can also cause the heart to become thick and look similar to HCM on these tests (usually in patients who are over 60 years old).

Recent research suggests that up to 10% of patients ≥ 60 years of age who have been diagnosed with HCM, may actually have ATTR-CM.  However, no formal research study has been done to confirm if this is what is happening.   Standard practice at Tufts is that patients ≥ 60 years of age have routine testing for HCM (including electrocardiogram, echocardiogram, and CMR) and a special test (called a pryophosphate scan) specifically to evaluate for ATTR-CM.  This is important as ATTR-CM is treated differently than HCM.

The research team is inviting participants to be included in a registry in order to look at the difference between the two diseases and how they are diagnosed.  This study's registry is a compilation of various cardiac images, lab tests, and medical histories of patients with HCM and ATTR-CM. If they choose to participate, they will be included in a  registry using the following information: clinical history, lab tests, echocardiogram, cardiac magnetic resonance imaging (CMR), and pyrophosphate scan.   We will look at this information to understand how often patients originally diagnosed with HCM were later diagnosed with ATTR-CM instead.



Study Details

Inclusion Criteria

  • ≥ 60 years of age
  • Presumed diagnosis of hypertrophic cardiomyopathy.

Exclusion Criteria

  • Age outside  of inclusion range
  • Patient without presumed diagnosis of hypertrophic cardiomyopathy

Study Requirements

Once the participant has signed consent, research staff at Tufts Medical Center will complete a review of the participant's electronic medical record to get the information that will be put into the registry.   This will include cardiac laboratory values, genetic testing, echocardiograms, pyrophosphate scans, cardiac magnetic resonance imaging, past medical history family history, and symptoms,  This information will be de-identified beore being put into the registry.   Participation will be for one year and will not require patient to follow-up or have the patient complete any additional follow-up tests or evaluations.