São Paulo, Brazil
São Paulo, Brazil

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Roque J.M.,Instituto do Coracao HCFMUSP | Roque J.M.,University of Sao Paulo | Carvalho V.O.,Instituto do Coracao HCFMUSP | Carvalho V.O.,University of Sao Paulo | And 6 more authors.
Arquivos Brasileiros de Cardiologia | Year: 2011

Becker muscular dystrophy (BMD) integrates dystrophy occurring due to genetic mutations that express the dystrophin protein in chromosome X. The onset of neuromuscular symptoms usually precedes the impairment of cardiac function, and may conversely happen by heart failure (HF). Physical training is well established in HF, however, when combined with BMD, it is controversial and without any scientific basis. This study presents the case of a patient with BMD associated with HF in cardiac transplant waiting list undergoing a physical training program.


Pereira C.,Instituto do Coracao HCFMUSP | Pereira C.,Hospital Israelita Albert Einstein | Miname M.,Instituto do Coracao HCFMUSP | Makdisse M.,Hospital Israelita Albert Einstein | And 3 more authors.
Arquivos Brasileiros de Cardiologia | Year: 2014

Background: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disease characterized by an elevation in the serum levels of total cholesterol and of low-density lipoproteins (LDL- c). Known to be closely related to the atherosclerotic process, FH can determine the development of early obstructive lesions in different arterial beds. In this context, FH has also been proposed to be a risk factor for peripheral arterial disease (PAD).Objective: This observational cross-sectional study assessed the association of PAD with other manifestations of cardiovascular disease (CVD), such as coronary artery and cerebrovascular disease, in patients with heterozygous FH.Methods: The diagnosis of PAD was established by ankle-brachial index (ABI) values ≤ 0.90. This study assessed 202 patients (35% of men) with heterozygous FH (90.6% with LDL receptor mutations), mean age of 51 ± 14 years and total cholesterol levels of 342 ± 86 mg/dL.Results: The prevalences of PAD and previous CVD were 17% and 28.2%, respectively. On multivariate analysis, an independent association between CVD and the diagnosis of PAD was observed (OR = 2.50; 95% CI: 1.004 - 6.230; p = 0.049).Conclusion: Systematic screening for PAD by use of ABI is feasible to assess patients with FH, and it might indicate an increased risk for CVD. However, further studies are required to determine the role of ABI as a tool to assess the cardiovascular risk of those patients. © 1996-2014, Sociedade Brasileira de Cardiologia. All rights reserved.

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