Analysis of myocardial function by deformation imaging in patients with transthyretin gene mutation

Abstract Introduction Hereditary transthyretin (TTR) amyloidosis is a rare disease that can affect various organs. The early identification of cardiac involvement through echocardiography allows to corroborate the diagnosis and start therapy at an stage. Purpose aim our study was detect signs in patients with TTR gene mutation neurological phenotype or absence any organ (carriers) compared (CA). Material methods An observational conducted on sample 31 mutation. Patients were divided into 3 groups (23% CA, 42% amyloid neuropathy 35% carriers). All underwent evaluation left ventricular myocardial deformation indices (apical/basal strain ratio relative apical sparing). Results Carriers had normal systolic diastolic function. Analyzing longitudinal global (GLS) we didn't find significant differences between carriers neuropathy, but found difference about apical/basal sparing (respectively 1.33±0.20 vs 1.58±0.25, p value 0.001 0.62±0.07 0.72±0.08, 0.039). Conclusion Relative specific identify CA; seems gradually increase from it could be used monitor mutation, before developing CA. Funding Acknowledgement Type funding sources: None.