Frequency of Cardiovascular Involvement in Familial Amyloidotic Polyneuropathy in Brazilian Patients.
BACKGROUND
Familial amyloidotic polyneuropathy (FAP) is a rare disease diagnosed in Brazil and worldwide. The frequency of cardiovascular involvement in Brazilian FAP patients is unknown.


OBJECTIVE
Detect the frequency of cardiovascular involvement and correlate the cardiovascular findings with the modified polyneuropathy disability (PND) score.


METHODS
In a national reference center, 51 patients were evaluated with clinical examination, electrocardiography (ECG), echocardiography (ECHO), and 24-hour Holter. Patients were classified according to the modified PND score and divided into groups: PND 0, PND I, PND II, and PND > II (which included PND IIIa, IIIb, and IV). We chose the classification tree as the statistical method to analyze the association between findings in cardiac tests with the neurological classification (PND).


RESULTS
ECG abnormalities were present in almost 2/3 of the FAP patients, whereas ECHO abnormalities occurred in around 1/3 of them. All patients with abnormal ECHO also had abnormal ECG, but the opposite did not apply. The classification tree identified ECG and ECHO as relevant variables (p < 0.001 and p = 0.08, respectively). The probability of a patient to be allocated to the PND 0 group when having a normal ECG was over 80%. When both ECG and ECHO were abnormal, this probability was null.


CONCLUSIONS
Brazilian patients with FAP have frequent ECG abnormalities. ECG is an appropriate test to discriminate asymptomatic carriers of the mutation from those who develop the disease, whereas ECHO contributes to this discrimination.
Instituto do Coração Edson Saad, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
Márcia Cavalcanti de Campos
MC
Queiroz
Instituto do Coração Edson Saad, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
Roberto Coury
RC
Pedrosa
Instituto do Coração Edson Saad, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
Amanda Cardoso
AC
Berensztejn
Instituto do Coração Edson Saad, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
Basílio de Bragança
Bde B
Pereira
Instituto Alberto Luiz Coimbra de Pós-Graduação e Pesquisa em Engenharia, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
Emília Matos do
EM
Nascimento
Instituto do Coração Edson Saad, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
Martha Maria Turano
MM
Duarte
Instituto de Biofísica, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
Pedro Paulo
PP
Pereira-Junior
Centro de Estudos em Paramiloidose Antônio Rodrigues de Mello, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
Marcia Waddington
MW
Cruz
D000328:Adult; D028227:Amyloid Neuropathies, Familial / Q000150:complications* / Q000453:epidemiology* / Q000503:physiopathology; D001938:Brazil / Q000453:epidemiology; D002318:Cardiovascular Diseases / Q000453:epidemiology* / Q000235:genetics* / Q000503:physiopathology; D004452:Echocardiography; D004562:Electrocardiography; D005260:Female; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D015995:Prevalence; D035583:Rare Diseases / Q000150:complications* / Q000453:epidemiology* / Q000503:physiopathology; D012720:Severity of Illness Index