Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 113
Filtrar
1.
Medicine (Baltimore) ; 99(4): e18905, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31977903

RESUMO

Although pathological confirmation is the gold standard for diagnosis of amyloidosis, there is a need for a relevant imaging modality to identify involved organs and evaluate disease extent. Thus, we prospectively investigated imaging findings of Tc-DPD scintigraphy in AL and ATTR amyloidosis.A total of 21 subjects with pathologically confirmed AL or ATTR amyloidosis were included. Pretreatment whole body Tc-DPD planar scanning and regional SPECT/CT were performed in all subjects. For allegedly involved organs, Tc-DPD uptake was visually and semi-quantitatively evaluated on a 4-point scale (grade 0: no uptake, 1: uptake less than spine, 2: uptake similar to spine, and 3: uptake greater than spine).There were 29 organs involved in AL and 12 in ATTR. Significant Tc-DPD uptake was found in 24 organs (sensitivity = 82.8%) in AL and 9 organs (sensitivity = 75.0%) in ATTR. Additional SPECT/CT was helpful to ensure abnormal DPD uptake in the involved organs, which was uncertain by attenuation in planar imaging. Degree of Tc-DPD uptake was significantly higher in ATTR compared with AL amyloidosis (P = .017). Diffuse soft tissue uptake with photon defects in the liver area was found only in ATTR amyloidosis.This study showed that Tc-DPD scintigraphy might have capacity to differentiate between AL and ATTR subtypes with good sensitivity in various organs involving primary systemic AL and ATTR amyloidosis. Additional SPECT/CT significantly improved the diagnostic efficacy of Tc-DPD scintigraphy.


Assuntos
Neuropatias Amiloides Familiares/diagnóstico por imagem , Amiloidose de Cadeia Leve de Imunoglobulina/diagnóstico , Cintilografia/métodos , Tomografia Computadorizada com Tomografia Computadorizada de Emissão de Fóton Único/métodos , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Compostos de Organotecnécio/administração & dosagem , Imagem Corporal Total
11.
Amyloid ; 26(3): 156-163, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31210553

RESUMO

Objective: Cardiac amyloid infiltration can lead to systolic heart failure (HF) or to conduction disorders (CD). Patients with transthyretin (ATTR) amyloidosis are particularly exposed. We sought to determine the prevalence of ATTR and AL among patients >60 years admitted with CD or unexplained systolic HF and increased wall thickness. Materials and Methods: We studied 143 patients (57% males, 79 ± 9 years) with HF (N = 28) or CD requiring pacemaker implantation (N = 115). In total, 139 (97%) patients (28 with HF and 111 with CD) underwent 99mTc-DPD scintigraphy to detect ATTR, and 105 (73%; 19 HF and 86 CD) underwent AL screening. Results: Five patients (4%; 95%CI:0-7%) exhibited wild-type ATTR (ATTRwt) amyloidosis, 2 (2%; 95%CI:0-4%) had CD and 3 (11%; 95%CI:0-23%) HF. No patient showed AL. The 2 ATTRwt patients with CD were previously asymptomatic, did not show classical ECG signs and exhibited mild LV hypertrophy with preserved LVEF. By contrast, all ATTRwt patients with HF had ECG and echocardiographic signs of amyloid. During a mean follow-up of 18 ± 11 months, 3(60%) patients with ATTRwt amyloidosis (1 CD and 2 HF) and 14(10.4%) without died. Conclusion: Prevalence of ATTRwt amyloidosis in patients with CD requiring pacemaker is low. Although, additional studies are needed, prevalence seems to be higher in elderly patients with systolic HF.


Assuntos
Neuropatias Amiloides Familiares/diagnóstico por imagem , Arritmias Cardíacas/diagnóstico por imagem , Cardiomiopatias/diagnóstico por imagem , Insuficiência Cardíaca Sistólica/diagnóstico por imagem , Hipertrofia Ventricular Esquerda/diagnóstico por imagem , Idoso , Idoso de 80 Anos ou mais , Neuropatias Amiloides Familiares/complicações , Neuropatias Amiloides Familiares/mortalidade , Neuropatias Amiloides Familiares/cirurgia , Arritmias Cardíacas/complicações , Arritmias Cardíacas/mortalidade , Arritmias Cardíacas/cirurgia , Biomarcadores/metabolismo , Cardiomiopatias/complicações , Cardiomiopatias/mortalidade , Cardiomiopatias/cirurgia , Estudos Transversais , Ecocardiografia , Feminino , Insuficiência Cardíaca Sistólica/complicações , Insuficiência Cardíaca Sistólica/mortalidade , Insuficiência Cardíaca Sistólica/cirurgia , Humanos , Hipertrofia Ventricular Esquerda/complicações , Hipertrofia Ventricular Esquerda/mortalidade , Hipertrofia Ventricular Esquerda/cirurgia , Masculino , Marca-Passo Artificial , Pré-Albumina/metabolismo , Estudos Prospectivos , Cintilografia , Análise de Sobrevida
12.
Amyloid ; 26(3): 128-138, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31172799

RESUMO

Background: Atrial fibrillation (AF) commonly affects patients with cardiac amyloidosis (CA). Amyloid deposition within the left atrium may be responsible for the subtype of AF in either permanent or non-permanent form. The prognostic implications of AF and its clinical subtype according to the type of CA are still controversial in this population. This study sought to investigate the prevalence, incidence and prognostic implications of AF and the clinical subtype of AF (permanent or non-permanent) in patients with CA. Methods: Two hundred and thirty-eight patients with CA and full medical records were retrospectively enrolled in the study: About 115 (48%) with light chain (AL) amyloidosis and 123 (52%) with transthyretin amyloidosis (ATTR). Patient's medical records were reviewed to establish baseline prevalence, incidence and impact on all-cause and cardiovascular mortality during follow-up of AF. Results: One hundred and four (44%) patients had history of AF at the time of diagnosis: 62 (60%) permanent and 42 (40%) non-permanent. There were 30 (26%) and 74 (60%) patients with history of AF among patients with AL and ATTR (including 5 hereditary and 69 wild-type), respectively (p<.0001). During the follow-up, 48 new patients developed AF (29, 12 and 7 among patients with AL, wild-type ATTR and hereditary ATTR). After adjustment for age, survival was similar in patients with or without history of AF (HR 0.87 (95% CI, 0.60 to 1.27; p = .467). AF had no impact on cardiovascular mortality. Among the 152 patients with history of AF included in the whole study, there were 75 (49%) patients with permanent AF. After adjustment for age, survival was similar in patients with permanent and non-permanent AF: HR 1.29 (95% CI, 0.84 to 1.99; p = .251). The results were the same among patients with AL or wild-type amyloidosis. Subtype of AF had no impact on cardiovascular mortality. Conclusions: AF is common in patients with CA. However, AF and clinical subtype of AF have no impact on all-cause mortality, whatever the type of amyloidosis.


Assuntos
Neuropatias Amiloides Familiares/diagnóstico por imagem , Fibrilação Atrial/diagnóstico por imagem , Átrios do Coração/diagnóstico por imagem , Amiloidose de Cadeia Leve de Imunoglobulina/diagnóstico por imagem , Idoso , Idoso de 80 Anos ou mais , Neuropatias Amiloides Familiares/sangue , Neuropatias Amiloides Familiares/complicações , Neuropatias Amiloides Familiares/mortalidade , Fibrilação Atrial/sangue , Fibrilação Atrial/complicações , Fibrilação Atrial/mortalidade , Ecocardiografia , Feminino , Átrios do Coração/fisiopatologia , Humanos , Amiloidose de Cadeia Leve de Imunoglobulina/sangue , Amiloidose de Cadeia Leve de Imunoglobulina/complicações , Amiloidose de Cadeia Leve de Imunoglobulina/mortalidade , Masculino , Pessoa de Meia-Idade , Pré-Albumina/metabolismo , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Análise de Sobrevida
17.
Eur J Neurol ; 26(1): 94-e10, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30102818

RESUMO

BACKGROUND AND PURPOSE: Distal involvement of autonomic nerve fibers is critical in familial amyloid polyneuropathy (FAP) due to transthyretin (TTR) mutation. This study compares different methods for assessing autonomic foot innervation in TTR-FAP patients. METHODS: Three groups of seven TTR-FAP patients were included, according to disease severity: clinically asymptomatic, moderate or advanced neuropathy. The autonomic investigation included the eutectic mixture of local anesthetics test and laser Doppler flowmetry for vasomotor aspects and the Sudoscan® (measuring electrochemical skin conductance) and Neuropad® test for sudomotor aspects. Somatic innervation was assessed by performing nerve conduction studies, quantitative sensory testing [including vibration, cold and warm detection threshold (WDT) measurements] and laser evoked potentials. RESULTS: The results of all neurophysiological tests varied according to TTR-FAP severity (P ≤ 0.01, Kruskal-Wallis test), except for the eutectic mixture of local anesthetics test and laser Doppler flowmetry variables. In addition, the sudomotor tests (Sudoscan or Neuropad) or WDT measurement provided early markers of neuropathy in two of the seven asymptomatic carriers. Finally, all neurophysiological results correlated with the Neuropathy Impairment Score (r values between -0.88 and -0.66, P < 0.005, Spearman test), except the cold detection threshold. CONCLUSIONS: The Neuropad test could be used to detect TTR-FAP onset, but confirmation requires electrochemical skin conductance and WDT measurement. The Sudoscan technique, but not the Neuropad test (at least assessed at a fixed time point), could be valuable to follow the progression of the neuropathy. Follow-up investigation should also include large-fiber investigation (e.g. nerve conduction studies and vibration detection threshold). Conversely, reliable tests for assessing vasomotor disturbances in limb extremities of TTR-FAP patients are still awaited.


Assuntos
Neuropatias Amiloides Familiares/diagnóstico , Sistema Nervoso Autônomo/fisiopatologia , Pé/fisiopatologia , Adulto , Idoso , Neuropatias Amiloides Familiares/diagnóstico por imagem , Neuropatias Amiloides Familiares/fisiopatologia , Sistema Nervoso Autônomo/diagnóstico por imagem , Feminino , Pé/diagnóstico por imagem , Resposta Galvânica da Pele , Humanos , Masculino , Pessoa de Meia-Idade , Mutação/genética , Condução Nervosa , Exame Neurológico , Pré-Albumina/genética
18.
J Neurol ; 266(1): 232-241, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30470998

RESUMO

Familial amyloid polyneuropathies (FAPs) are life-threatening, autosomal dominant diseases resulting, in most instances, from transthyretin gene (TTR) variants. A small number of TTR variants lead to leptomeningeal amyloidosis (LA), which is a rare FAP subtype with late-onset central nervous system (CNS) impairment symptoms. Previous studies suggest that LA's CNS selectivity was due to complete endoplasmic reticulum-associated degradation of highly destabilized mutants in peripheral tissues. LA's later age at onset (AAO) was due to lower choroid plexus secretory efficacy. This study reports on a family with LA, including six symptomatic and three presymptomatic members. The LA diagnosis was confirmed by leptomeningeal enhancement on contrast MRI, elevated cerebrospinal fluid protein levels, and positive Congo red staining. The predominant symptoms included headaches, dizziness, vomiting, hallucinations, and cognitive impairments which associated with obstructive hydrocephalus. The TTR p.D38G variant with the lowest secretory efficacy was identified as the genetic cause by whole exome sequencing. The family had a statistically significantly earlier mean AAO of 31.3 ± 7.4 (p = 0.001). These uncommon phenotypes indicate unknown factors influencing the progress of CNS impairment via TTR mutants. Medical imaging examinations suggest the potential early diagnosis value of contrast MRI and the importance of ependyma involvement in LA. LA genetic and clinical data were reviewed and summarized. These findings expand the FAPs' phenotypic spectrum and are valuable in FAP diagnosis, treatment, and further research.


Assuntos
Neuropatias Amiloides Familiares/genética , Variação Genética , Pré-Albumina/genética , Adulto , Idade de Início , Neuropatias Amiloides Familiares/diagnóstico por imagem , Neuropatias Amiloides Familiares/epidemiologia , Neuropatias Amiloides Familiares/fisiopatologia , Grupo com Ancestrais do Continente Asiático/genética , Família , Evolução Fatal , Feminino , Humanos , Masculino , Meninges , Fenótipo
19.
BMC Cardiovasc Disord ; 18(1): 221, 2018 12 04.
Artigo em Inglês | MEDLINE | ID: mdl-30509186

RESUMO

BACKGROUND: Cardiac Amyloidosis (CA) pertains to the cardiac involvement of a group of diseases, in which misfolded proteins deposit in tissues and cause progressive organ damage. The vast majority of CA cases are caused by light chain amyloidosis (AL) and transthyretin amyloidosis (ATTR). The increased awareness of these diseases has led to an increment of newly diagnosed cases each year. METHODS: We performed multiple searches on MEDLINE, EMBASE and the Cochrane Database of Systematic Reviews. Several search terms were used, such as "cardiac amyloidosis", "diagnostic modalities cardiac amyloidosis" and "staging cardiac amyloidosis". Emphasis was given on original articles describing novel diagnostic and staging approaches to the disease. RESULTS: Imaging techniques are indispensable to diagnosing CA. Novel ultrasonographic techniques boast high sensitivity and specificity for the disease. Nuclear imaging has repeatedly proved its worth in the diagnostic procedure, with efforts now focusing on standardization and quantification of amyloid load. Because the latter would be invaluable for any staging system, those spearheading research in magnetic resonance imaging of the disease are also trying to come up with accurate tools to quantify amyloid burden. Staging tools are currently being developed and validated for ATTR CA, in the spirit of the acclaimed Mayo Staging System for AL. CONCLUSION: Cardiac involvement confers significant morbidity and mortality in all types of amyloidosis. Great effort is made to reduce the time to diagnosis, as treatment in the initial stages of the disease is tied to better prognosis. The results of these efforts are highly sensitive and specific diagnostic modalities that are also reasonably cost effective.


Assuntos
Neuropatias Amiloides Familiares/sangue , Neuropatias Amiloides Familiares/diagnóstico por imagem , Cardiomiopatias/sangue , Cardiomiopatias/diagnóstico por imagem , Ecocardiografia , Amiloidose de Cadeia Leve de Imunoglobulina/sangue , Amiloidose de Cadeia Leve de Imunoglobulina/diagnóstico por imagem , Imagem por Ressonância Magnética , Tomografia Computadorizada de Emissão , Biomarcadores/sangue , Humanos , Valor Preditivo dos Testes , Prognóstico , Reprodutibilidade dos Testes , Índice de Gravidade de Doença
20.
J Med Case Rep ; 12(1): 370, 2018 Dec 16.
Artigo em Inglês | MEDLINE | ID: mdl-30553273

RESUMO

BACKGROUND: Transthyretin amyloidosis is a systemic disorder caused by extracellular deposition of insoluble amyloid fibrils in peripheral and autonomic nerves, heart, kidney, gastrointestinal tract, and other organs. Hereditary transthyretin amyloidosis is an autosomal dominant disease. More than 120 mutations have been reported in the transthyretin gene with considerable phenotypic heterogeneity and geographic diversity. Among them, a sporadic case of hereditary transthyretin amyloidosis with cardiac-predominant phenotype is very rare, progressive, and potentially fatal if left undiagnosed. However, a clinical diagnosis of cardiac amyloidosis still remains challenging due to non-specific symptoms, and less sensitivity and specificity of medical examinations. CASE PRESENTATION: A 60-year-old Japanese man with a history of embolic stroke and hypertrophic cardiomyopathy visited our department for heart failure. The present case exhibited only cardiomyopathy without any clinical signs of systemic amyloidosis manifested as carpal tunnel syndrome, polyneuropathy, or autonomic dysfunction. An echocardiogram revealed severe asymmetric left ventricular hypertrophy, biatrial dilatation, pericardial effusion, and preserved left ventricular ejection fraction of 50% with severe diastolic dysfunction. Technetium pyrophosphate scintigraphy indicated marked diffuse myocardial uptake of technetium pyrophosphate, strongly suggesting transthyretin cardiac amyloidosis, which was firmly confirmed by a left ventricular endomyocardial biopsy. Genetic analysis demonstrated a transthyretin C70T (Pro24Ser) heterozygous mutation. Tafamidis, a transthyretin stabilizer, was started. His cardiac symptoms remained unchanged for 12 months. CONCLUSIONS: Here we report the case of a patient with hereditary cardiac amyloidosis associated with a Pro24Ser mutation in transthyretin, which is the first case reported in Japan. Technetium pyrophosphate scintigraphy was extremely useful for definitive diagnosis. Thus, we propose that the nuclear imaging technique should be taken into account even for an exploratory diagnosis of transthyretin cardiac amyloidosis.


Assuntos
Neuropatias Amiloides Familiares/genética , Benzoxazóis/uso terapêutico , Cardiomiopatias/genética , Diuréticos/uso terapêutico , Genes Dominantes/genética , Pré-Albumina/genética , Cintilografia , Neuropatias Amiloides Familiares/diagnóstico por imagem , Neuropatias Amiloides Familiares/tratamento farmacológico , Cardiomiopatias/diagnóstico por imagem , Ecocardiografia , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Resultado do Tratamento
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA