L'Amiloidosi transtiretino correlata ereditaria: profilo clinico, fisiopatologico e storia naturale

Gallelli, Ilaria (2012) L'Amiloidosi transtiretino correlata ereditaria: profilo clinico, fisiopatologico e storia naturale, [Dissertation thesis], Alma Mater Studiorum Università di Bologna. Dottorato di ricerca in Scienze mediche specialistiche: progetto n. 1 "Fisiopatologia dell'insufficienza cardiaca", 24 Ciclo. DOI 10.6092/unibo/amsdottorato/4697.
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Background. Hereditary transthyretin (TTR)-related amyloidosis (ATTR) is mainly considered a neurologic disease. We assessed the phenotypic and genotypic spectrum of ATTR in a non-endemic, Caucasian area and evaluated prevalence, genetic background and disease profile of cases with an exclusively cardiac phenotype, highlighting possible hints for the differential diagnosis with hypertrophic cardiomyopathy (HCM) and senile systemic amyloidosis (SSA) Methods and Results. In this Italian multicenter study, 186 patients with ATTR were characterized at presentation. Thirty patients with SSA and 30 age-gender matched HCM patients were used for comparison. Phenotype was classified as: exclusively cardiac (n= 31, 17%), exclusively neurologic (n= 46, 25%), mixed cardiac/neurologic (n=109, 58%). Among the 8 different mutations responsible for an exclusively cardiac phenotype, Ile68Leu was the most frequent (23/31). Five patients with an exclusively cardiac phenotype developed mild abnormalities at neurological examination but no symptoms during a 36 [14−50] month follow-up. Exclusively cardiac phenotype was characterized by male gender, age > 65 years, heart failure symptoms, concentric left ventricular (LV) “hypertrophy” and moderately depressed LV ejection fraction. This profile was similar to SSA but relatively distinct from HCM. Compared to patients with a mixed phenotype, patients with a exclusively cardiac phenotype showed a more pronounced cardiac involvement on both echocardiogram and ECG. Conclusion. A clinically relevant subset of Caucasian ATTR patients present with an exclusively cardiac phenotype, mimicking HCM or SSA. Echocardiographic and ECG findings are useful to differentiate ATTR from HCM but not from SSA. The role of liver transplantation in these patients is questionable.

Tipologia del documento
Tesi di dottorato
Gallelli, Ilaria
Dottorato di ricerca
Scuola di dottorato
Scienze mediche e chirurgiche cliniche
Settore disciplinare
Settore concorsuale
Data di discussione
30 Maggio 2012

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