Neurological and cardiological profiling of patients with mutated transthyretin amyloidosis

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Abstract Background Mutated Transthyretin amyloidosis (ATTRv) can present isolated peripheral or autonomic neuropathy (Familial Amyloidotic Polyneuropathy=FAP), more rarely as isolated cardiac amyloidosis, or a combination of both. However, a comprehensive neurological and cardiological characterization remains lacking. Purpose This study aimed to characterize a population of patients with final diagnosis of ATTRv followed up at Neurological and Cardiological Departments of our University. Methods The study included 58 ATTRv patients (41% women, mean age 60±15 years). The identified mutations were: 28 Phe64Leu, 20 Val30Met, 4 Val142Ile, 3 Glu54Lys, 1 Ile68Leu, 1 Lys65Asn, and 1 orthotopic liver transplantation. Neurological involvement was evaluated through both clinical assessment and instrumental tests, cardiological examination, was provided by ECG, comprehensive speckle Doppler Echocardiography and dosage of NT-ProBNP. Patients were classified by neurologist into three groups: 1) FAP0 = asymptomatic subjects carrying pathogenic mutation but without clinical or instrumental evidence of neurological involvement; FAP1= symptomatic patients without assisted walking; FAP2= patients need support for walking or wheelchair bound. We used analysis of variance (ANOVA) for continuous variables, calculating p-values. Results. Differences between groups are reported in the Table. Figure reports differences between groups of variables resulted significantly different. Since GLS and E/E prime are strictly correlate with age, determinants of GLS and E/E prime were modelled using multiple linear regression adjusted by age and groups, with groups retain their independent role in determining the differences in GLS and E/E prime (p<0.001). Conclusion Patients with ATTRv without neurological symptoms exhibit a favourable cardiological profile. In contrast, those with neurological involvement, even in the stage without assisted walking, show findings of increased wall thickness and worsening systolic and diastolic function, which further deteriorate in the advanced stage of FAP. This phenomenon seems to be independent of type of mutation. Thus, concurrent neurological and cardiological assessments are mandatory in patients with ATTRv.Table Figure

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