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1.
Arch Cardiovasc Dis ; 113(8-9): 542-550, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32771348

RESUMO

BACKGROUND: Screening for Fabry disease is sub-optimal in non-specialised centres. AIM: To assess the diagnostic value of electrocardiographic scores of left ventricular hypertrophy and a combined electrocardiographic and echocardiographic model in Fabry disease. METHODS: We retrospectively reviewed the electrocardiograms and echocardiograms of 61 patients (mean age 55.6±11.5 years; 57% men) with Fabry disease and left ventricular hypertrophy, and compared them with those from 59 patients (mean age 44.8±18.3 years; 66% men) with sarcomeric hypertrophic cardiomyopathy. Six electrocardiography criteria for left ventricular hypertrophy were specifically analysed: Sokolow-Lyon voltage index; Cornell voltage index; Gubner index; Romhilt-Estes score; Sokolow-Lyon product (voltage index×QRS duration); and Cornell product (voltage index×QRS duration). RESULTS: Right bundle branch block was more frequent in patients with Fabry disease (54% vs. 22%; P=0.001). QRS duration, Gubner score and Sokolow-Lyon product were significantly higher in patients with Fabry disease. Maximal wall thickness was higher in patients with sarcomeric hypertrophic cardiomyopathy (21.9±5.1 vs. 15.5±2.9mm; P<0.001). Indexed sinus of Valsalva diameter was larger in patients with Fabry disease. After multivariable analysis, right bundle branch block, Sokolow-Lyon product, maximal wall thickness and aortic diameter were independently associated with Fabry disease. A model including these four variables yielded an area under the receiver operating characteristic curve of 0.918 (95% confidence interval 0.868-0.968) for Fabry disease. CONCLUSION: Our model combining easy-to-assess electrocardiographic and echocardiographic variables may be helpful in improving screening and reducing diagnosis delay in Fabry disease.


Assuntos
Cardiomiopatia Hipertrófica/diagnóstico , Ecocardiografia , Eletrocardiografia , Doença de Fabry/diagnóstico , Adulto , Idoso , Cardiomiopatia Hipertrófica/diagnóstico por imagem , Cardiomiopatia Hipertrófica/fisiopatologia , Diagnóstico Diferencial , Doença de Fabry/diagnóstico por imagem , Doença de Fabry/fisiopatologia , Feminino , Frequência Cardíaca , Humanos , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Estudos Retrospectivos , Volume Sistólico , Função Ventricular Esquerda , Função Ventricular Direita , Remodelação Ventricular
2.
Rev Cardiovasc Med ; 21(2): 181-190, 2020 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-32706207

RESUMO

Heart failure with preserved ejection fraction is a very common clinical problem. Its prevalence is increasing with aging of the population. A diverse group of risk factors and etiologies comprise the HFpEF syndrome. No specific therapies have been shown to improve survival for the vast majority of HFpEF cases. Restrictive cardiomyopathies account for a significant portion of HFpEF patients and are characterized by diastolic dysfunction due to infiltration of the myocardium or ventricular hypertrophy. Many of these restrictive diseases occur in the context of myocardial infiltration by other substances such as amyloid, iron or glycogen or endomyocardial fibrosis. These infiltrative diseases usually have important clues in the clinical picture and on cardiac imaging that may allow differentiation from the usual HFpEF phenotype (that is commonly seen in the older, hypertensive patient). Noninvasive diagnosis has replaced endomyocardial biopsy for most instances in the workup of these conditions. Early recognition is important to institute specific therapies and to improve prognosis. In this review, we describe 4 major infiltrative cardiomyopathies (Cardiac Amyloidosis, Sarcoidosis, Hemochromatosis and Fabry disease), and their key imaging features.


Assuntos
Amiloidose/diagnóstico por imagem , Cardiomiopatias/diagnóstico por imagem , Doença de Fabry/diagnóstico por imagem , Insuficiência Cardíaca/etiologia , Hemocromatose/diagnóstico por imagem , Volume Sistólico , Função Ventricular Esquerda , Amiloidose/complicações , Amiloidose/fisiopatologia , Amiloidose/terapia , Cardiomiopatias/complicações , Cardiomiopatias/fisiopatologia , Cardiomiopatias/terapia , Diagnóstico Diferencial , Diagnóstico Precoce , Doença de Fabry/complicações , Doença de Fabry/fisiopatologia , Doença de Fabry/terapia , Insuficiência Cardíaca/diagnóstico por imagem , Insuficiência Cardíaca/fisiopatologia , Insuficiência Cardíaca/terapia , Hemocromatose/complicações , Hemocromatose/fisiopatologia , Hemocromatose/terapia , Humanos , Valor Preditivo dos Testes , Prognóstico
3.
Int J Cardiovasc Imaging ; 36(7): 1333-1342, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32385539

RESUMO

In Anderson-Fabry disease (FD), we sought to evaluate relation between left ventricular (LV) hypertrophy, longitudinal strain (LS), myocardial T1 mapping and cardiopulmonary exercise parameters, and their prognostic value in term of cardiovascular outcomes. In this prospective, observational, monocentric study called "FABRY-Image", we evaluated consecutive adult FD patients by echocardiography, cardiac magnetic resonance, and cardiopulmonary exercise testing. We investigated regional LS, the relations between LV hypertrophy, LS, T1 mapping, and VO2 peak and VE/VCO2, and the prediction of cardiovascular events during follow-up. From 2016 to 2019, we included 35 FD patients (44 ± 17 years, 40% male), that were compared with 20 controls. In FD patients, global, basal and mid-LV LS, as well as mean T1 were significantly altered compared to controls (p < 0.05) with relative apical LS sparing. LV wall thickness was particularly related to mean of basal LS (r = - 0.73), to T1 (r = - 0.48), and to VE/VCO2 (r = 0.45). Mean of basal LS was well related to myocardial T1 (r = 0.59). A good relation was observed between VO2 peak and global LS (r = 0.39) while VE/VCO2 slope was more related to maximal LV wall thickness (r = 0.45), and T1 (r = - 0.61). During a median follow-up of 2.4 years, 6/31 patients presented de novo atrial fibrillation or stroke. In Cox univariate analyses, LV wall thickness, basal LS, T1 value, and VE/VCO2 were significantly predictive of occurrence of de novo atrial fibrillation or stroke (p < 0.05). Our study shows an apical LS sparing in FD patients as observed in amyloidosis, and a close relation between LV hypertrophy, LS, T1 mapping, and VE/VCO2 which are all associated to the occurrence of de novo atrial fibrillation or TIA/stroke during follow-up. These results need to be confirmed by future multicentric studies.


Assuntos
Ecocardiografia Doppler , Teste de Esforço , Tolerância ao Exercício , Doença de Fabry/diagnóstico por imagem , Hipertrofia Ventricular Esquerda/diagnóstico por imagem , Imagem Cinética por Ressonância Magnética , Função Ventricular Esquerda , Remodelação Ventricular , Adulto , Doença de Fabry/fisiopatologia , Feminino , França , Humanos , Hipertrofia Ventricular Esquerda/fisiopatologia , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Prognóstico , Estudos Prospectivos , Fatores de Tempo
4.
PLoS One ; 15(5): e0233460, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32442237

RESUMO

BACKGROUD: Fabry disease (OMIM #301 500), the most prevalent lysosomal storage disease, is caused by enzymatic defects in alpha-galactosidase A (GLA gene; Xq22.1). Fabry disease has historically been characterized by progressive renal failure, early stroke and hypertrophic cardiomyopathy, with a diminished life expectancy. A nonclassical phenotype has been described with an almost exclusive cardiac involvement. Specific therapies with enzyme substitution or chaperone molecules are now available depending on the mutation carried. Numerous clinical and fundamental studies have been conducted without stratifying patients by phenotype or severity, despite different prognoses and possible different pathophysiologies. We aimed to identify a simple and clinically relevant way to classify and stratify patients according to their disease severity. METHODS: Based on data from the French Fabry Biobank and Registry (FFABRY; n = 104; 54 males), we applied unsupervised multivariate statistics to determine clusters of patients and identify clinical criteria that would allow an effective classification of adult patients. Thanks to these criteria and empirical clinical considerations we secondly elaborate a new score that allow the severity stratification of patients. RESULTS: We observed that the absence of acroparesthesia or cornea verticillata is sufficient to classify males as having the nonclassical phenotype. We did not identify criteria that significantly cluster female patients. The classical phenotype was associated with a higher risk of severe renal (HR = 35.1; p <10-3) and cardiac events (HR = 4.8; p = 0.008) and a trend toward a higher risk of severe neurological events (HR = 7.7; p = 0.08) compared to nonclassical males. Our simple, rapid and clinically-relevant FFABRY score gave concordant results with the validated MSSI. CONCLUSION: Acroparesthesia and cornea verticillata are simple clinical criteria that efficiently stratify Fabry patients, defining 3 different groups: females and males with nonclassical and classical phenotypes of significantly different severity. The FFABRY score allows severity stratification of Fabry patients.


Assuntos
Doença de Fabry/classificação , Adulto , Estudos de Coortes , Córnea/diagnóstico por imagem , Doença de Fabry/complicações , Doença de Fabry/diagnóstico por imagem , Feminino , França , Humanos , Pessoa de Meia-Idade , Parestesia/etiologia , Fenótipo , Estudos Prospectivos , Sistema de Registros , Adulto Jovem
5.
Int J Cardiovasc Imaging ; 36(8): 1465-1476, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32306159

RESUMO

In Anderson-Fabry disease (AFD), left ventricular (LV) radial function has been scarcely investigated. We hypothesized that LV function may be affected by disease specific mechanisms and sought to comprehensively evaluate LV radial, circumferential and longitudinal function in a large population of AFD patients looking at the influence of LV geometry and fibrosis. We prospectively studied 94 consecutive AFD patients (41.5 ± 14.5 years; 41 men) with preserved LV ejection fraction (EF) utilizing speckle-tracking echocardiography. A subset of patients underwent gadolinium-enhanced cardiac magnetic resonance. Cases were compared to 48 healthy subjects matched for age and sex. LV concentric hypertrophy was found in 33 AFD patients while LV concentric remodeling (relative wall thickness ≥ 0.43) in 16 out 61 patients with normal LV mass. AFD patients had lower radial, longitudinal and circumferential strains than controls, independently by LV geometry pattern. Patients with LV hypertrophy showed reduced global longitudinal strain (p < 0.001) and early diastolic untwisting rate (p = 0.002) as compared to patients with normal geometry. In the whole AFD population, neither radial strain nor circumferential strain correlated with LV mass, while global longitudinal strain and early diastolic untwisting rate did (both p < 0.001). Late gadolinium enhancement was significantly associated with longitudinal strain, twisting rate and early diastolic untwisting rate, with twisting rate being the most powerful independent predictor (ß = - 0.461; p = 0.002). Findings demonstrate impairment of LV radial strain in AFD patients with preserved EF, even in a pre-hypertrophic stage. Development of LV hypertrophy and fibrosis make worse mostly longitudinal dysfunction.


Assuntos
Ecocardiografia Doppler em Cores , Ecocardiografia Doppler de Pulso , Doença de Fabry/diagnóstico por imagem , Hipertrofia Ventricular Esquerda/diagnóstico por imagem , Disfunção Ventricular Esquerda/diagnóstico por imagem , Função Ventricular Esquerda , Remodelação Ventricular , Adulto , Idoso , Estudos de Casos e Controles , Progressão da Doença , Doença de Fabry/fisiopatologia , Feminino , Fibrose , Humanos , Hipertrofia Ventricular Esquerda/fisiopatologia , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Estudos Prospectivos , Disfunção Ventricular Esquerda/fisiopatologia , Adulto Jovem
6.
J Neurol Neurosurg Psychiatry ; 91(7): 756-763, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32317398

RESUMO

BACKGROUND AND AIM: It is unclear which patients with Fabry disease (FD) are at risk for progression of white matter lesions (WMLs) and brain infarctions and whether enzyme replacement therapy (ERT) changes this risk. The aim of this study was to determine the effect of ERT and clinical characteristics on progression of WMLs and infarctions on MRI in patients with FD. METHODS: MRIs were assessed for WMLs (Fazekas scale), infarctions and basilar artery diameter (BAD). The effect of clinical characteristics (renal and cardiac involvement, cardiovascular risk factors, cardiac complications, BAD) and ERT on WML and infarction progression was evaluated using mixed models. RESULTS: One hundred forty-nine patients were included (median age: 39 years, 38% men, 79% classical phenotype). Median follow-up time was 7 years (range: 0-13 years) with a median number of MRIs per patient of 5 (range: 1-14), resulting in a total of 852 scans. Variables independently associated with WML and infarction progression were age, male sex and a classical phenotype. Progression of WMLs and infarctions was not affected by adding ERT to the model, neither for the whole group, nor for early treated patients. Progression was highly variable among patients which could not be explained by other known variables such as hypertension, cholesterol, atrial fibrillation and changes in kidney function, left ventricular mass or BAD. CONCLUSION: Progression of WMLs and cerebral infarctions in FD is mainly related to age, sex and phenotype. Additional effects of established cardiovascular risk factors, organ involvement and treatment with ERT are probably small to negligible.


Assuntos
Encéfalo/diagnóstico por imagem , Doença de Fabry/diagnóstico por imagem , Substância Branca/diagnóstico por imagem , Adolescente , Adulto , Idoso , Criança , Progressão da Doença , Feminino , Seguimentos , Humanos , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Adulto Jovem
7.
Anatol J Cardiol ; 23(2): 79-85, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32011328

RESUMO

OBJECTIVE: Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism which arises due to deficient or absent activity of lysosomal α-galactosidase A (α-Gal A). This may be associated with increased left ventricular (LV) wall thickness and may mimic the morphological features of hypertrophic cardiomyopathy. The purpose of this study was to define the ratio of occurrence of FD to the manifestation of unexplained left ventricular hypertrophy (LVH). METHODS: We studied a prospectively assembled a consecutive cohort of 190 patients with unexplained LVH on echocardiography. The criterion for LVH diagnosis was a maximum LV wall thickness of 13 mm or greater. All patients were tested for mutations in the GLA gene. RESULTS: The majority of patients were male (n=119, 63%) and the mean patient age was 47.2±115 years. In 190 patients diagnosed with LVH, we identified 2 patients (1.05%) with documented GLA mutations [c.427G>A (p.A143T)(p.Ala143Thr)] and [c.937G>T (p.D313Y)(p.Asp313Tyr)]. After the family screening, 3 additional patients with FD were identified in 2 families, including 5 individuals who are now receiving enzyme replacement therapy. CONCLUSION: We identified 2 index patients with FD and unexplained LVH. Cardiologists should, therefore, be aware of FD in cases of unexplained LVH. Family screening is crucial for the earlier identification of unaffected new patients who may benefit from enzyme replacement therapy.


Assuntos
Doença de Fabry/epidemiologia , Hipertrofia Ventricular Esquerda/complicações , Estudos de Coortes , Ecocardiografia , Grupo com Ancestrais do Continente Europeu , Doença de Fabry/complicações , Doença de Fabry/diagnóstico por imagem , Doença de Fabry/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Estudos Prospectivos , Turquia/epidemiologia , alfa-Galactosidase/genética
8.
Eur J Med Genet ; 63(2): 103703, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31200018

RESUMO

BACKGROUND, AIMS AND METHODS: The α-galactosidase gene (GLA) c.337T>C/p.Phe113Leu variant was originally described in patients with late-onset cardiac forms of Fabry disease (FD), who had residual α-galactosidase activity. It has since emerged as the most commonly reported GLA variant in Portuguese subjects diagnosed with FD but is also prevalent in the Italian population, where two boys carrying the GLA Leu113 allele were identified in a large-scale newborn screening program, the variant allele segregating in both cases with the same surrounding haplotype. To further delineate the genotype-phenotype correlations of this GLA variant, we have reviewed the natural history and clinical phenotypes of 11 symptomatic Portuguese males, from 10 unrelated families originating from several different areas in mainland Portugal and Madeira Island, who were diagnosed with FD associated with the GLA Leu113 allele in a diversity of clinical and screening settings. Nine of the patients were the probands of their respective families. To test whether the GLA Leu113 allele inherited by the 10 Portuguese and the two Italian families resulted from independent mutational events, we have additionally performed a haplotype analysis with 5 highly polymorphic, closely linked microsatellite markers surrounding the GLA gene. RESULTS AND CONCLUSIONS: Hemizygosity for the GLA Leu113 variant allele is associated with a late-onset form of FD, invariably presenting with severe cardiac involvement. Clinically relevant cerebrovascular and kidney involvement may also occur in some patients but the pathogenic relationship between the incomplete α-galactosidase deficiency and the risks of stroke and of chronic kidney disease is not straightforward. The observation that the Leu113 allele segregated within the same GLA microsatellite haplotype in both the Portuguese and Italian families suggests its inheritance from a common ancestor.


Assuntos
Doença de Fabry/diagnóstico , Doença de Fabry/genética , alfa-Galactosidase/genética , alfa-Galactosidase/metabolismo , Adulto , Idoso , Alelos , Doenças Cardiovasculares/complicações , Doenças Cardiovasculares/genética , Doenças Cardiovasculares/metabolismo , Transtornos Cerebrovasculares/complicações , Transtornos Cerebrovasculares/genética , Transtornos Cerebrovasculares/metabolismo , Doença de Fabry/complicações , Doença de Fabry/diagnóstico por imagem , Estudos de Associação Genética , Genótipo , Haplótipos , Humanos , Itália/epidemiologia , Masculino , Repetições de Microssatélites/genética , Pessoa de Meia-Idade , Mutação , Miócitos Cardíacos/patologia , Miócitos Cardíacos/ultraestrutura , Fenótipo , Portugal/epidemiologia , Insuficiência Renal Crônica/complicações , Insuficiência Renal Crônica/genética , Insuficiência Renal Crônica/metabolismo , Fatores de Risco
10.
J Cardiol ; 75(1): 27-33, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31623930

RESUMO

BACKGROUND: Fabry disease is one of the causes of left ventricular hypertrophy (LVH) and can be treated with enzyme replacement therapy or pharmacological chaperone therapy. Late gadolinium enhancement (LGE) in cardiac magnetic resonance (CMR) can identify myocardial fibrosis and be used for the stratification in LVH. However, the details of the prevalence and characteristics of LGE in Japanese Fabry patients have not been reported. METHODS: We evaluated myocardial involvement in 26 Fabry patients (10 males, 16 females) using gadolinium-enhanced CMR. LGE areas were analyzed using the previously reported scoring method. Echocardiography was also performed to evaluate the left ventricular function and left ventricular mass. RESULTS: LGE on CMR images was positive in 5 out of 26 patients, and all patients with LGE-positive findings suffered from LVH (2 out of 5 male patients and 3 out of 4 female patients with LVH on echocardiography). LGE was specifically localized at the mid-wall in the infero-lateral area of the left ventricle. LGE-positive patients seemed to be older, and tended to have a larger left ventricular mass index and higher B-type natriuretic peptide level than LGE-negative patients. CONCLUSIONS: These results revealed that specific localization of LGE was present in Fabry patients.


Assuntos
Doença de Fabry/diagnóstico por imagem , Coração/diagnóstico por imagem , Hipertrofia Ventricular Esquerda/diagnóstico por imagem , Adulto , Meios de Contraste , Ecocardiografia , Doença de Fabry/patologia , Feminino , Gadolínio , Coração/fisiopatologia , Humanos , Hipertrofia Ventricular Esquerda/patologia , Hipertrofia Ventricular Esquerda/fisiopatologia , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Função Ventricular Esquerda , Adulto Jovem
11.
Circ Cardiovasc Imaging ; 12(12): e009430, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31826677

RESUMO

BACKGROUND: Cardiac response to enzyme replacement therapy (ERT) in Fabry disease is typically assessed by measuring left ventricular mass index using echocardiography or cardiovascular magnetic resonance, but neither quantifies myocardial biology. Low native T1 in Fabry disease represents sphingolipid accumulation; late gadolinium enhancement with high T2 and troponin elevation reflects inflammation. We evaluated the effect of ERT on myocardial storage, inflammation, and hypertrophy. METHODS: Twenty patients starting ERT (60% left ventricular hypertrophy-positive) were compared with 18 patients with early disease and 18 with advanced disease over 1 year at 3 centers. Cardiovascular magnetic resonance (left ventricular mass index, T1, T2, global longitudinal strain, and late gadolinium enhancement) and biomarkers (high-sensitive troponin-T and NT-proBNP [N-terminal Pro-B-type natriuretic peptide]) at baseline (pre-ERT) and 12 months were performed. Early disease controls were stable, treatment-naïve patients (mainly left ventricular hypertrophy-negative); advanced disease controls were stable, established ERT patients (mainly left ventricular hypertrophy-positive). RESULTS: Over 1 year, early disease controls increased maximum wall thickness and left ventricular mass index (9.8±2.7 versus 10.2±2.6 mm; P=0.010; 65±15 versus 67±16 g/m2; P=0.005) and native T1 fell (981±58 versus 959±61 ms; P=0.002). Advanced disease controls increased T2 in the late gadolinium enhancement area (57±6 versus 60±7 ms; P=0.023) with worsening global longitudinal strain (-13.2±3.4 versus -12.1±4.8; P=0.039). Newly treated patients had a small reduction in maximum wall thickness (14.8±5.9 versus 14.4±5.7 mm; P=0.028), stable left ventricular mass index (93±42 versus 92±40 g/m2; P=0.186) and a reduction in T1 lowering (917±49 versus 931±54 ms; P=0.017). CONCLUSIONS: Fabry myocardial phenotype development is different at different disease stages. After 1 year of ERT initiation, left ventricular hypertrophy-positive patients have a detectable, small reduction in left ventricular mass and storage.


Assuntos
Terapia de Reposição de Enzimas , Doença de Fabry/tratamento farmacológico , Hipertrofia Ventricular Esquerda/tratamento farmacológico , Isoenzimas/uso terapêutico , Miocárdio/metabolismo , Proteínas Recombinantes/uso terapêutico , Esfingolipídeos/metabolismo , Função Ventricular Esquerda/efeitos dos fármacos , Remodelação Ventricular/efeitos dos fármacos , alfa-Galactosidase/uso terapêutico , Adulto , Idoso , Progressão da Doença , Doença de Fabry/diagnóstico por imagem , Doença de Fabry/enzimologia , Doença de Fabry/fisiopatologia , Humanos , Hipertrofia Ventricular Esquerda/diagnóstico por imagem , Hipertrofia Ventricular Esquerda/enzimologia , Hipertrofia Ventricular Esquerda/fisiopatologia , Londres , Imagem por Ressonância Magnética , Pessoa de Meia-Idade , Miocárdio/patologia , New South Wales , Fenótipo , Estudos Prospectivos , Recuperação de Função Fisiológica , Fatores de Tempo , Resultado do Tratamento
12.
Korean J Radiol ; 20(12): 1562-1582, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31854146

RESUMO

This document is the third part of the guidelines for the protocol, the interpretation and post-processing of cardiac magnetic resonance (CMR) studies. These consensus recommendations have been developed by the Consensus Committee of the Korean Society of Cardiovascular Imaging to standardize the requirements for image interpretation and post-processing of CMR. This third part of the recommendations describes tissue characterization modules, including perfusion, late gadolinium enhancement, and T1- and T2 mapping. Additionally, this document provides guidance for visual and quantitative assessment consisting of "What-to-See," "How-To," and common pitfalls for the analysis of each module. The Consensus Committee hopes that this document will contribute to the standardization of image interpretation and post-processing of CMR studies.


Assuntos
Coração/diagnóstico por imagem , Imagem Cinética por Ressonância Magnética/métodos , Estenose das Carótidas/diagnóstico por imagem , Meios de Contraste/química , Angiografia Coronária , Doença de Fabry/diagnóstico por imagem , Gadolínio/química , Humanos , Infarto do Miocárdio/diagnóstico por imagem , Miocardite/diagnóstico por imagem
13.
Cardiology ; 144(3-4): 125-130, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31634893

RESUMO

The authors report the case of a classic phenotype of Fabry disease in a 60-year-old male patient presenting with left ventricular hypertrophy and stroke. Genetic analysis revealed 2 GLA-gene variants, i.e., p.R356Q and p.G360R. This clinical case highlights that the finding of 2 or more GLA gene variants in a Fabry patient should lead to a careful evaluation in order to determine their exact role in the condition. This case also provides the first clinical evidence that the p.G360R mutation is pathogenic and responsible for a classic phenotype of Fabry disease. The clinical improvement following the initiation of enzyme replacement therapy reinforces the importance of Fabry disease awareness and diagnosis in patients exhibiting red flags, such as left ventricular hypertrophy and stroke.


Assuntos
Doença de Fabry/genética , alfa-Galactosidase/genética , Ecocardiografia , Doença de Fabry/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Fenótipo
14.
Ann Nucl Med ; 33(12): 930-936, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31605355

RESUMO

OBJECTIVES: Information on the relationship between myocardial damage assessed by myocardial scintigraphy and prognosis in patients with Anderson-Fabry disease (AFD) is lacking. We therefore aimed to investigate the prognostic impacts of myocardial thallium-201 (201Tl) and iodine-123 beta-methyl 15-para-iodophenyl 3(R, S)-methylpentadecanoic acid (123I-BMIPP) dual scintigraphy in patients with AFD. METHODS: Eighteen consecutive patients with AFD underwent resting myocardial 201Tl/123I-BMIPP dual scintigraphy. Total defect scores (TDS) on both images were calculated visually according to the 17-segment model using a 5-point scoring system. The mismatch score (MS) was calculated as 'TDS on 123I-BMIPP-TDS on 201Tl'. RESULTS: Six major adverse cardiac events (MACEs) were recorded during a mean follow-up of 6.7 ± 4.2 years (three heart failure requiring hospitalization and three cardiac deaths). Left ventricular mass index, left atrial diameter, brain natriuretic peptide, TDS on 123I-BMIPP, and MS were all significantly greater in patients with MACEs compared with those without. Kaplan-Meier analysis indicated that high TDS on 123I-BMIPP and high MS were associated with poor event-free survival. CONCLUSION: TDS on 123I-BMIPP was a better prognostic determinant in patients with AFD than TDS on 201Tl. Myocardial 201Tl/123I-BMIPP dual scintigraphy may thus be a useful noninvasive modality for evaluating prognosis in patients with AFD.


Assuntos
Doença de Fabry/diagnóstico por imagem , Ácidos Graxos , Coração/diagnóstico por imagem , Iodobenzenos , Radioisótopos de Tálio , Feminino , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Prognóstico , Cintilografia
16.
J Cardiovasc Magn Reson ; 21(1): 45, 2019 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-31366357

RESUMO

BACKGROUND: Cardiac involvement is common and is the leading cause of mortality in Fabry disease (FD). We explored the association between cardiovascular magnetic resonance (CMR) myocardial strain, T1 mapping, late gadolinium enhancement (LGE) and left ventricular hypertrophy (LVH) in patients with FD. METHODS: In this prospective study, 38 FD patients (45.0 ± 14.5 years, 37% male) and 8 healthy controls (40.1 ± 13.7 years, 63% male) underwent 3 T CMR including cine balanced steady-state free precession (bSSFP), LGE and modified Look-Locker Inversion recovery (MOLLI) T1 mapping. Global longitudinal (GLS) and circumferential (GCS) strain and base-to-apex longitudinal strain (LS) and circumferential strain (CS) gradients were derived from cine bSSFP images using feature tracking analysis. RESULTS: Among FD patients, 8 had LVH (FD LVH+, 21%) and 17 had LGE (FD LGE+, 45%). Nineteen FD patients (50%) had neither LVH nor LGE (FD LVH- LGE-). None of the healthy controls had LVH or LGE. FD patients and healthy controls did not differ significantly with respect to GLS (- 15.3 ± 3.5% vs. - 16.3 ± 1.5%, p = 0.45), GCS (- 19.4 ± 3.0% vs. -19.5 ± 2.9%, p = 0.84) or base-to-apex LS gradient (7.5 ± 3.8% vs. 9.3 ± 3.5%, p = 0.24). FD patients had significantly lower base-to-apex CS gradient (2.1 ± 3.7% vs. 6.5 ± 2.2%, p = 0.002) and native T1 (1170.2 ± 37.5 ms vs. 1239.0 ± 18.0 ms, p < 0.001). Base-to-apex CS gradient differentiated FD LVH- LGE- patients from healthy controls (OR 0.42, 95% CI: 0.20 to 0.86, p = 0.019), even after controlling for native T1 (OR 0.24, 95% CI: 0.06 to 0.99, p = 0.049). In a nested logistic regression model with native T1, model fit was significantly improved by the addition of base-to-apex CS gradient (χ2(df = 1) = 11.04, p < 0.001). Intra- and inter-observer agreement were moderate to good for myocardial strain parameters: GLS (ICC 0.849 and 0.774, respectively), GCS (ICC 0.831 and 0.833, respectively), and base-to-apex CS gradient (ICC 0.737 and 0.613, respectively). CONCLUSIONS: CMR reproducibly identifies myocardial strain abnormalities in FD. Loss of base-to-apex CS gradient may be an early marker of cardiac involvement in FD, with independent and incremental value beyond native T1.


Assuntos
Cardiomiopatias/diagnóstico , Meios de Contraste/administração & dosagem , Doença de Fabry/diagnóstico por imagem , Hipertrofia Ventricular Esquerda/diagnóstico , Imagem Cinética por Ressonância Magnética , Contração Miocárdica , Compostos Organometálicos/administração & dosagem , Função Ventricular Esquerda , Remodelação Ventricular , Adulto , Cardiomiopatias/fisiopatologia , Estudos de Casos e Controles , Doença de Fabry/fisiopatologia , Feminino , Humanos , Hipertrofia Ventricular Esquerda/fisiopatologia , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Valor Preditivo dos Testes , Prognóstico , Estudos Prospectivos , Reprodutibilidade dos Testes
17.
Stroke ; 50(9): 2571-2573, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31337300

RESUMO

Background and Purpose- Stroke is the most frequent severe clinical event in patients with Fabry disease. We aimed to evaluate the cerebral magnetic resonance imaging findings of patients with Fabry disease and assess their association with future stroke risk after enzyme replacement therapy (ERT) induction. Methods- We retrospectively reviewed the magnetic resonance imaging findings of 25 patients with Fabry disease. Of these, 12 adult patients without prior stroke or ERT were enrolled to evaluate the association between baseline magnetic resonance imaging findings and stroke occurrence after ERT initiation. We assessed white matter hyperintensities, periventricular hyperintensities, and basilar artery diameter as neuroimaging markers. Results- The mean age of participants was 38.8±16.8 years. Fourteen patients (56.0%) were women. White matter hyperintensities and periventricular hyperintensities were observed in 15 and 13 cases, respectively. The mean basilar artery diameter was 3.2±0.55 mm. Two patients demonstrated old infarct lesions. Three of 12 patients in whom ERT was initiated had symptomatic stroke after baseline magnetic resonance imaging. Of these, 2 developed stroke within 6-month post-ERT initiation. The baseline basilar artery diameter was larger in patients who developed stroke than in those who did not (4.0±0.40 versus 2.9±0.49 mm, P=0.02). Conclusions- Basilar artery diameter may be associated with stroke risk after ERT initiation among Japanese patients with Fabry disease.


Assuntos
Doença de Fabry/complicações , Imagem por Ressonância Magnética/efeitos adversos , Neuroimagem , Acidente Vascular Cerebral/etiologia , Adulto , Idoso , Encéfalo/diagnóstico por imagem , Terapia de Reposição de Enzimas/métodos , Doença de Fabry/diagnóstico por imagem , Feminino , Humanos , Japão , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Acidente Vascular Cerebral/tratamento farmacológico , Adulto Jovem , alfa-Galactosidase/análise
19.
Circ J ; 83(9): 1901-1907, 2019 08 23.
Artigo em Inglês | MEDLINE | ID: mdl-31308318

RESUMO

BACKGROUND: Although previous studies have suggested a certain prevalence of Fabry disease (FD) in left ventricular hypertrophy (LVH) patients, the screening of FD is difficult because of its wide-ranging clinical phenotypes. We aimed to clarify the utility of combined measurement of plasma globotriaosylsphingosine (lyso-Gb3) concentration and α-galactosidase A activity (α-GAL) as a primary screening of FD in unexplained LVH patients.Methods and Results:Between 2014 and 2016, both lyso-Gb3 and α-GAL were measured in 277 consecutive patients (male 215, female 62, age 25-79 years) with left ventricular wall thickness >12 mm on echocardiogram: 5 patients (1.8%) screened positive (2 (0.7%) showed high lyso-Gb3 and 4 (1.4%) had low α-GAL levels). Finally, 2 patients (0.7%) were diagnosed with clinically significant FD. In 1 case, a female heterozygote with normal α-GAL levels had genetic variants of unknown significance and was diagnosed as FD by endomyocardial biopsy. The other case was a male chronic renal failure patient requiring hemodialysis, and he had a p.R112H mutation. In both cases there were high lyso-Gb3 levels. CONCLUSIONS: The serum lyso-Gb3 level can be relevant for clinically significant FD, and combined measurement of lyso-Gb3 and α-GAL can provide better screening of FD in unexplained LVH patients.


Assuntos
Doença de Fabry/sangue , Glicolipídeos/sangue , Hipertrofia Ventricular Esquerda/sangue , Esfingolipídeos/sangue , Adolescente , Adulto , Idoso , Biomarcadores/sangue , Doença de Fabry/diagnóstico por imagem , Doença de Fabry/genética , Doença de Fabry/fisiopatologia , Feminino , Predisposição Genética para Doença , Humanos , Hipertrofia Ventricular Esquerda/diagnóstico por imagem , Hipertrofia Ventricular Esquerda/genética , Hipertrofia Ventricular Esquerda/fisiopatologia , Japão , Masculino , Pessoa de Meia-Idade , Mutação , Valor Preditivo dos Testes , Estudos Prospectivos , Função Ventricular Esquerda , Remodelação Ventricular , Adulto Jovem , alfa-Galactosidase/sangue , alfa-Galactosidase/genética
20.
JACC Cardiovasc Imaging ; 12(7 Pt 1): 1230-1242, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31272606

RESUMO

Anderson-Fabry disease (AFD) is a rare X-linked inherited metabolic disorder which results in a deficiency or absence of the enzyme α-galactosidase A, leading to the accumulation of glycosphingolipids in various cells and organs including the heart. Cardiac involvement is common and results in increased myocardial inflammation, left ventricular hypertrophy (LVH), and myocardial fibrosis. Echocardiography and cardiovascular magnetic resonance (CMR) offer distinctive and often complementary use to assist in the diagnosis and monitoring pharmacologic therapy in AFD, including detection of the AFD cardiac phenotype, differentiation from other forms of LVH, and patient selection for therapeutic intervention. Advanced cardiac imaging holds promise in subclinical detection of AFD-related abnormalities as well as disease staging and prognostication.


Assuntos
Ecocardiografia , Doença de Fabry/diagnóstico por imagem , Hipertrofia Ventricular Esquerda/diagnóstico por imagem , Imagem por Ressonância Magnética , Diagnóstico Diferencial , Doença de Fabry/tratamento farmacológico , Doença de Fabry/fisiopatologia , Feminino , Fibrose , Humanos , Hipertrofia Ventricular Esquerda/tratamento farmacológico , Hipertrofia Ventricular Esquerda/fisiopatologia , Masculino , Miocárdio/patologia , Seleção de Pacientes , Valor Preditivo dos Testes , Prognóstico , Função Ventricular Esquerda , Remodelação Ventricular
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