2015
DOI: 10.5935/abc.20150112 View full text |Buy / Rent full text
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Abstract: BackgroundFamilial amyloidotic polyneuropathy (FAP) is a rare disease diagnosed in Brazil and worldwide. The frequency of cardiovascular involvement in Brazilian FAP patients is unknown.ObjectiveDetect the frequency of cardiovascular involvement and correlate the cardiovascular findings with the modified polyneuropathy disability (PND) score.MethodsIn a national reference center, 51 patients were evaluated with clinical examination, electrocardiography (ECG), echocardiography (ECHO), and 24-hour Holter. Patien… Show more

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“…No Brasil e no mundo, a mutação Val50Met é a mais prevalente. 14,15 Por vezes, com padrão etário bimodal em alguns países, apresenta fenótipo sobretudo neurológico quando acomete indivíduos mais jovens a partir dos 30 anos; e padrão misto neurológico e cardiológico no segundo pico de idade, a partir dos 50 anos. 14 Por sermos um serviço terciário, o padrão observado nos pacientes com essa mutação, a segunda mais frequente em nosso estudo, foi o de acometimento misto a partir dos 50 anos.…”
Section: Discussionunclassified
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“…No Brasil e no mundo, a mutação Val50Met é a mais prevalente. 14,15 Por vezes, com padrão etário bimodal em alguns países, apresenta fenótipo sobretudo neurológico quando acomete indivíduos mais jovens a partir dos 30 anos; e padrão misto neurológico e cardiológico no segundo pico de idade, a partir dos 50 anos. 14 Por sermos um serviço terciário, o padrão observado nos pacientes com essa mutação, a segunda mais frequente em nosso estudo, foi o de acometimento misto a partir dos 50 anos.…”
Section: Discussionunclassified
“…Most patients need a pacemaker during the course of the disease 44 . In the Brazilian population, the most common cardiac abnormalities are nonspecific ventricular repolarizations, ventricular conduction disturbances, atrial tachycardia, valve thickening and increased myocardium echogenicity 45 .…”
Section: Cardiomyopathymentioning
“…Data from a specialized center in amyloidosis in Brazil point to a high prevalence of myocardial involvement in patients with amyloid polyneuropathy from abnormalities on the electrocardiogram (ECG). 43 …”
Section: Introductionmentioning