RESUMO
Left ventricular hypertrophy (LVH) caused by cardiac variant Fabry disease (FD) is typically late-onset and may mimic LVH caused by abnormal loading conditions. We aimed to determine the prevalence of FD in a non-selective patient population of everyday practice presenting with LVH, including those with hypertension and valve disease. We measured plasma alpha-galactosidase A activity using dried blood spot tests in 499 (age = 66 ± 13 years; 336 men) Hong Kong Chinese patients with LVH defined as maximal LV septal/posterior wall thickness ≥13 mm on echocardiography. Patients with low enzyme activity underwent mutation analysis of the GLA gene. Eight (age = 53-74 years; all men) unrelated patients (1.6%) had low plasma alpha-galactosidase A activity (0.57 ± 0.27 µmol/L wb/hr) and all were confirmed to have the GLA IVS4 + 919G > A mutation. FD patients presented with heart failure (n = 5), heart block (n = 2), ventricular tachycardia (n = 1), chest pain (n = 3), and/or murmur (n = 1). Uncontrolled hypertension (n = 4) and/or severe mitral/aortic valve pathology (n = 2) were frequent. Ethnic subgroups included Teochew (n = 5), Canton (n = 2), and Wenzhou (n = 1). Endomyocardial biopsy (n = 6) revealed hypertrophic myocytes with vacuolization and dense lamellar bodies. Late-onset IVS4 + 919G > A FD is prevalent among Chinese LVH patients, and should be considered as a cause of LVH in adult patients even when hypertension and/or valve pathology are present.
RESUMO
Fabry Disease (FD) is a systemic disorder that can result in cardiovascular, renal, and neurovascular disease leading to reduced life expectancy. FD should be considered in the differential of all patients with unexplained left ventricular hypertrophy (LVH). We therefore performed a prospective screening study in Edmonton and Hong Kong using Dried Blood Spot (DBS) testing on patients with undiagnosed LVH. Participants found to have unexplained LVH on echocardiography were invited to participate and subsequently subjected to DBS testing. DBS testing was used to measure α-galactosidase (α-GAL) enzyme activity and for mutation analysis of the α-galactosidase (GLA) gene, both of which are required to make a diagnosis of FD. DBS testing was performed as a screening tool on patients (n = 266) in Edmonton and Hong Kong, allowing for detection of five patients with FD (2% prevalence of FD) and one patient with hydroxychloroquine-induced phenocopy. Left ventricular mass index (LVMI) by GLA genotype showed a higher LVMI in patients with IVS4 + 919G > A mutations compared to those without the mutation. Two patients were initiated on ERT and hydroxychloroquine was discontinued in the patient with a phenocopy of FD. Overall, we detected FD in 2% of our screening cohort using DBS testing as an effective and easy to administer screening tool in patients with unexplained LVH. Utilizing DBS testing to screen for FD in patients with otherwise undiagnosed LVH is clinically important due to the availability of effective therapies and the value of cascade screening in extended families.
Assuntos
Doença de Fabry/diagnóstico , Doença de Fabry/enzimologia , Hipertrofia Ventricular Esquerda/diagnóstico , Hipertrofia Ventricular Esquerda/enzimologia , Programas de Rastreamento/métodos , alfa-Galactosidase/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Análise Mutacional de DNA , Diagnóstico Diferencial , Teste em Amostras de Sangue Seco , Ecocardiografia , Doença de Fabry/epidemiologia , Feminino , Genótipo , Hong Kong/epidemiologia , Humanos , Hipertrofia Ventricular Esquerda/epidemiologia , Masculino , Pessoa de Meia-Idade , Mutação , Fenótipo , Estudos ProspectivosRESUMO
To the best of our knowledge, this is the first report of optical coherence tomography evaluation of superficial femoral artery atherectomy in a patient from the Asia-Pacific region. We demonstrate the feasibility of this technique in Chinese populations.
Assuntos
Angiografia/métodos , Aterectomia/métodos , Artéria Femoral , Doença Arterial Periférica , Cirurgia Assistida por Computador/métodos , Tomografia de Coerência Óptica/métodos , Idoso , Artéria Femoral/diagnóstico por imagem , Artéria Femoral/cirurgia , Humanos , Claudicação Intermitente/etiologia , Claudicação Intermitente/terapia , Masculino , Doença Arterial Periférica/diagnóstico , Doença Arterial Periférica/fisiopatologia , Resultado do Tratamento , Grau de Desobstrução VascularAssuntos
Ligas , Angioplastia com Balão/instrumentação , Derivação Arteriovenosa Cirúrgica/efeitos adversos , Implante de Prótese Vascular/instrumentação , Falência Renal Crônica/terapia , Diálise Renal , Stents Metálicos Autoexpansíveis , Stents , Síndrome da Veia Cava Superior/cirurgia , Idoso , Angioplastia com Balão/efeitos adversos , Implante de Prótese Vascular/métodos , Humanos , Falência Renal Crônica/diagnóstico , Masculino , Flebografia , Desenho de Prótese , Recidiva , Síndrome da Veia Cava Superior/diagnóstico por imagem , Síndrome da Veia Cava Superior/etiologia , Síndrome da Veia Cava Superior/fisiopatologia , Resultado do Tratamento , Grau de Desobstrução VascularAssuntos
Fístula Artério-Arterial/diagnóstico , Doença da Artéria Coronariana/diagnóstico , Comunicação Interatrial/diagnóstico , Idoso , Fístula Artério-Arterial/cirurgia , Ponte de Artéria Coronária/métodos , Doença da Artéria Coronariana/cirurgia , Seio Coronário , Diagnóstico Diferencial , Ecocardiografia Doppler , Humanos , MasculinoRESUMO
This case demonstrates that the high radial strength of a dedicated nitinol venous stent is able to achieve good acute angiographic results and clinical efficacy.
Assuntos
Angioplastia com Balão/métodos , Cateteres de Demora/efeitos adversos , Procedimentos Endovasculares/métodos , Oclusão de Enxerto Vascular/cirurgia , Stents/efeitos adversos , Veia Subclávia/cirurgia , Veia Cava Superior/cirurgia , Feminino , Oclusão de Enxerto Vascular/diagnóstico , Oclusão de Enxerto Vascular/etiologia , Humanos , Falência Renal Crônica/terapia , Pessoa de Meia-Idade , Flebografia , Diálise Renal/efeitos adversos , Reoperação , Veia Subclávia/diagnóstico por imagem , Veia Cava Superior/diagnóstico por imagemRESUMO
Optimal GuideLiner positioning for OCT acquisition in tortuous vessels requires special attention to avoid iatrogenic dissection.