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Abstract
Aim: Mutated transthyretin (TTRv) cardiac amyloidosis (CA) represents an uncommon form of CA. Our study aimed to assess the best echocardiographic prognostic parameter in the early stage of TTRv amyloidosis with cardiomyopathy. Methods: In total, 99 patients with TTRv in New York Heart Association class I or II and with no clinical history of previous cardiac disease were studied. Assessment with 99mTc-DPD whole-body scan showed CA in 46 patients. At the first medical contact, an echocardiographic examination was performed. In addition to conventional left ventricular (LV), echocardiographic measurements [ejection fraction (EF), dimensions and diastolic function, global longitudinal strain (GLS), longitudinal strain of the 4 apical segments, longitudinal strain of the 12 mid-basal segments (MBLS)] and their ratio [relative regional strain ratio (RRSR)] were obtained. Patient outcome was evaluated during a follow-up with an average duration of six years. Cardiac death and appropriate implantable cardiac defibrillator (ICD) shock were considered major events. Results: A higher value of LV thickness, E/E’, and RRSR and lower LV volumes, EF, GLS, MBLS were observed in patients with CA than the ones with only TTRv. During follow-up (median of 7.7 years), 25 major events (23 cardiac death and 2 appropriate ICD shocks) occurred. The logistic univariate analyses showed that LV EF, LV septal thickness, E/E’, GLS, and MBLS were all predictors of cardiovascular death. In multivariate analysis, MBLS was the only independent predictor of major events. A cut off of -14 of MBLS was selected as the best value to discriminate a worse prognosis on Kaplan-Meyer analysis. Conclusion: Longitudinal dysfunction is observed in the early stages of ATTRv amyloidosis with cardiomyopathy. Medio-basal LV longitudinal dysfunction is a strong independent echocardiographic predictor of cardiac death.
Highlights
Familial transthyretin amyloidosis due to a mutation of the gene coding for transthyretin (TTRv) is one of the three most frequent subtypes, together with light chain (AL) and wild-type TTR amyloidosis[1,2,3]
The logistic univariate analyses showed that left ventricular (LV) ejection fraction (EF), LV septal thickness, E/E’, global longitudinal strain (GLS), and mid-basal segments (MBLS) were all predictors of cardiovascular death
Longitudinal dysfunction is observed in the early stages of ATTRv amyloidosis with cardiomyopathy
Summary
Familial transthyretin amyloidosis due to a mutation of the gene coding for transthyretin (TTRv) is one of the three most frequent subtypes, together with light chain (AL) and wild-type TTR amyloidosis (wtTTR)[1,2,3]. Among these, mutated TTR represents the most uncommon form of cardiac amyloidosis (CA). In TTRv patients, penetrance and disease phenotype is variable according to the different well-known TTR gene mutations[4]. Non-invasive diagnosis of CA is performed using an integrated evaluation of biomarkers (troponins and natriuretic peptides), echocardiography, cardiac magnetic resonance, and 99mTc-3,3-diphosphono-1,2 propanodicarboxylic acid (DPD) scintigraphy. DPD scintigraphy, identifying with high accuracy TTRrelated amyloidosis, is considered the non-invasive gold standard diagnostic tool for ATTR amyloidosis with cardiomyopathy[5,6,7]
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