Prevalence and Characteristics of Transthyretin Amyloidosis in Patients With Left Ventricular Hypertrophy of Unknown Etiology

Study Overview
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Brief Summary
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The main purpose of this study is to determine the prevalence of ATTR Cardiomyopathy among patients admitted due to Left Ventricular Hypertrophy (LVH) >15mm of unknown etiology by using a 99mTc-tracer scintigraphy based protocol

Official Title
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PREVALENCE AND CHARACTERISTICS OF TRANSTHYRETIN AMYLOIDOSIS IN PATIENTS WITH LEFT VENTRICULAR HYPERTROPHY OF UNKNOWN ETIOLOGY TTRACK

Conditions
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Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM)

Intervention / Treatment
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* Diagnostic Test: Diagnosis of TTR amyloidosis cardiomyopathy


Participation Criteria
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Eligibility Criteria
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Inclusion criteria: Patient signed inform consent. Males and Females. Age ≥50 years. Left ventricular hypertrophy (LVH) defined as end-diastolic LV maximum wall thickness (MWT) ≥15mm in Echocardiogram. Plan to undergo or recently underwent radionuclide bone scintigraphy and/or SPECT with any of the following radio labelled tracers: 99mTc-DPD or 99mTc-PYP or 99mTc-HMDP. Exclusion criteria: Etiological diagnosis explaining the LVH (p.e. Sarcomeric HCM, Myeloma, Fabry disease, Sarcoidosis, Any type of amyloidosis (AA, AL, TTR) Severe aortic stenosis defined as aortic valve area (AVA) < 1.0 cm2

Ages Eligible for Study
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Minimum Age: 50 Years
Maximum Age: 99 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Patients with LVH of unknown etiology<br> | Diagnostic Test: Diagnosis of TTR amyloidosis cardiomyopathy<br>* Diagnosis of TTR amyloidosis cardiomyopathy with scintigraphy<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Number of patients with cardiac fixation at the radionuclide bone scintigraphy and/or SPECT | • To assess the prevalence of patients with cardiac fixation on a radionuclide bone scintigraphy and/or Single Photon Emission Computed Tomography (SPECT) performed with 99mTc-DPD or 99mTc-PYP or 99mTc-HMDP* among patients with left ventricular hypertrophy (LVH) from an undiagnosed etiology | Baseline to 6 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Number of patients with mutation at (Transthyretin) TTR coding gene | In patients diagnosed with ATTR Amyloidosis to assess the prevalence of hereditary (ATTRv) and wild-type (ATTRwt) ATTR amyloidosis | Baseline to 6 months | 
| Number of patients with familial history | To assess the prevalence of patients with familial history of known cardiomyopathy (CM), polyneuropathy (PN), sudden cardiac death (SCD) among their relatives (ie, parents, siblings and 2nd/3rd degree family members) | Baseline to 6 months | 
| Number of patients with concomitant signs and symptoms of ATTR amyloidosis | • To assess the prevalence in patients with cardiac fixation at the bone scintigraphy/SPECT of concomitant signs or symptoms of ATTR amyloidosis, i.e.: Senso-motor Polyneuropathy Carpal Tunnel syndrome (CTS) Autonomic dysfunction Cardiological manifestations Laboratory signs Others | Baseline to 6 months | 
| Presence of neurogical signs and/or symptoms compatible with ATTR Polyneuropathy | To assess the coexistence of typical neurological signs/symptoms even when overlooked at the first evaluation. | Baseline to 6 months | 
| Description of specific TTR gene mutation if present | To describe the prevalence of TTR genetic mutation** in patients with cardiac fixation at the bone scintigraphy ( visual grade 1 to 3) | Baseline to 6 months | 
| Comparison of clinical and biochemical characteristics in patients with positive scintigraphy (cardiac fixation at the bone scintigraphy grade 1, 2 or 3) and/or SPECT | To compare the clinical and biochemical characteristics between patients with positive scintigraphy (cardiac fixation at the bone scintigraphy grade 1, 2 or 3) and/or SPECT | Baseline to 6 months | 
| Prevalence of AL or ATTR amyloidosis amyloidosis in patients with cardiac fixation at the bone scintigraphy (visual grade 1 to 3) and/or SPECT | To assess the prevalence of AL or ATTR amyloidosis amyloidosis in patients with cardiac fixation at the bone scintigraphy (visual grade 1 to 3) and/or SPECT | Baseline to 6 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Scintigraphy, Gammagraphy, TTR, ATTR, Hipertrophic cardiomyopathy (HCM), HCM