Role of natriuretic peptide to predict cardiac abnormalities in patients with hereditary transthyretin amyloidosis

Thibaud Damy, Jean-François Deux, Stéphane Moutereau, Soulef Guendouz, Dania Mohty, Stéphane Rappeneau, Aziz Guellich, Luc Hittinger, Sylvain Loric, Jean-Pascal Lefaucheur, Violaine Plante-Bordeneuve
2013 Amyloid: Journal of Protein Folding Disorders  
Familial amyloid polyneuropathy (FAP) mainly targets the peripheral nervous system and heart. Early noninvasive detection of cardiac impairment is critical for therapeutic management. Aim: To assess if amino-terminal pro-brain natriuretic peptide (NT-proBNP) or troponin T (cTnT) can predict echocardiographic left-ventricle (LV) impairment in FAP. Methods : 36 asymptomatic carriers and patients with FAP had echocardiographic measurement of left-ventricular (LV) systolic function, hypertrophy
more » ... ) and estimation of filling pressure (FP), Results: Overall, median age, NT-proBNP, and LV ejection fraction were, respectively, 59 years (41-74), 323 pg/ml (58-1960), and 60% (51-66). 12 patients had increased in cTnT. Prevalence of ATTR gene mutations was 53% for Val30Met. Four individuals were asymptomatic, 6 patients had isolated neurological clinical signs, and 26 had echo-LV abnormalities. The ROC curve identified NT-proBNP patients with echo-LV abnormalities (area: 0.92; (0.83-0.99), p=0.001) at a threshold >82 pg/ml with a sensitivity of 92%, and a specificity of 90%. Increased in NT-proBNP occurred in patients with SD and/or LVH with or without increase in FP. Elevated cTnT (>0.01ng/ml) was only observed in patients with LVH and systolic dysfunction, with or without FP. Conclusion: In FAP, NT-proBNP was associated with cardiac impairment suggesting that NT-proBNP could be used in carriers or in FAP patients with only neurologic symptoms for identifying the appropriatetime to start cardiac echocardiographic assessment and follow-up. cTnT identified patients with severe cardiac disease. Abbreviations: ATTR: transthyretin amyloidosis E, A, EA: early, late, and mean transmitral diastolic peak flow velocities FAP: familial amyloid polyneuropathy FP: filling pressure LR+ and LR-: positive and negative likelihood ratios LV: left ventricle LV-2D-strain: left ventricular peak systolic longitudinal strain LVEF: left ventricular ejection fraction LVEDD: left ventricular end-diastolic diameter LVH: left ventricular hypertrophy MRI: magnetic-resonance imaging NT-proBNP: amino-terminal pro-brain natriuretic peptide SD: systolic dysfunction
doi:10.3109/13506129.2013.825240 pmid:23964755 fatcat:rsmewxcmafevrmjyicm557b7v4