Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy
This trial is active, not recruiting.
|Conditions||cardiac amyloidosis, amyloidosis in transthyretin (ttr), hypertrophic cardiomyopathy (hcm)|
|Start date||June 2012|
|End date||June 2016|
|Trial size||260 participants|
|Trial identifier||NCT01623245, 11714|
Cardiac amyloidosis are related to the accumulation of fibrillar proteins in the extracellular leading to disruption of the cardiac tissue architecture. Amyloidosis in transthyretin (TTR) are the most common hereditary amyloidosis but remain poorly studied at heart. This is serious and deadly. The prevalence of TTR amyloidosis is probably underestimated in hypertrophic cardiomyopathy (HCM) often of unknown etiology because of the lack of systematic implementation of myocardial biopsy because of their side effects.
In the population of Hypertrophic Cardiomyopathy patients, patients suffering from a cardiac amyloidosis
Number of ATTRm mutations
time frame: 1 day
Genotype and clinical factors
time frame: 1 day
Male or female participants at least 18 years old.
- Patients with cardiomyopathy defined by an ultrasound thickness of the left ventricle >= 13 mm if familial form or >= 15 mm if sporadic form.
- Patients with a signed consent authorizing the specific blood test for genetic sequencing to look for abnormal TTR gene
- Patients with a diagnosis of cardiomyopathy already determined or related already diagnosed.
- Significant aortic stenosis (≤ 1 cm ²)
|Official title||Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy|
|Principal investigator||Thibaud DAMY|
|Description||A systematic screening of TTR mutations within the MHC would diagnose cardiac amyloidosis in TTR and improve the care of patients and their families. The detection of this disease is important because this disease is fatal and a new treatment to prevent the accumulation of TTR is now available (Tafamidis). This drug has proved effective in stabilizing neurological damage. Depending on the number of patient with cardiac amyloidosis in TTR detected, the prospect will begin a clinical trial to test the effectiveness of a new treatment to prevent the increase in mass of the left ventricle wall objectified resonance nuclear Magnetic.|
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