Cardiomiopatia restritiva por depósito de desmina

Silva, Christiano Pereira; Bacal, Fernando; Benvenuti, Luiz Alberto; Bocchi, Edimar Alcides

doi:10.1590/s0066-782x2007001800014

Cited by 3 publications

(1 citation statement)

References 7 publications

(4 reference statements)

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“…The genetics underlying this type of CMP remain mainly unknown, although the most prevalent mutations found were in sarcomeric genes associated with HCM [ 42 ], including troponin I , β-myosin heavy chain , α-cardiac actin , titin and myosin light chain . In addition, DES mutations associated with myopathies in general were linked with RCM [ 43 ]. The major variability of this CMP even within the same family sustains the idea of multiple genetic factors being involved, including genetic modifiers and numerous interconnected pathways.…”

Section: Guidelines Perspectivementioning

confidence: 99%

The Multifaced Perspectives of Genetic Testing in Pediatric Cardiomyopathies and Channelopathies

Popa-Fotea

Cojocaru

Scafa-Udriște

et al. 2020

JCM

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Pediatric inherited cardiomyopathies (CMPs) and channelopathies (CNPs) remain important causes of death in this population, therefore, there is a need for prompt diagnosis and tailored treatment. Conventional evaluation fails to establish the diagnosis of pediatric CMPs and CNPs in a significant proportion, prompting further, more complex testing to make a diagnosis that could influence the implementation of lifesaving strategies. Genetic testing in CMPs and CNPs may help unveil the underlying cause, but needs to be carried out with caution given the lack of uniform recommendations in guidelines about the precise time to start the genetic evaluation or the type of targeted testing or whole-genome sequencing. A very diverse etiology and the scarce number of randomized studies of pediatric CMPs and CNPs make genetic testing of these maladies far more particular than their adult counterpart. The genetic diagnosis is even more puzzling if the psychological impact point of view is taken into account. This review aims to put together different perspectives, state-of-the art recommendations—synthetizing the major indications from European and American guidelines—and psychosocial outlooks to construct a comprehensive genetic assessment of pediatric CMPs and CNPs.

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Section: Guidelines Perspectivementioning

confidence: 99%

The Multifaced Perspectives of Genetic Testing in Pediatric Cardiomyopathies and Channelopathies

Popa-Fotea

Cojocaru

Scafa-Udriște

et al. 2020

JCM

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Cardiomyopathy, adult valve disease and heart failure in South America

Bocchi¹,

Guimarães

Tarasoutshi

et al. 2008

Heart

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Continued assessment of temporal trends in mortality and epidemiology of specific cardiovascular diseases in South America is needed to provide a scientific basis for rational allocation of the limited healthcare resources and introduction of strategies to reduce risk and predict the future burden of cardiovascular disease. The epidemiology of cardiomyopathies, adult valve disease and heart failure (HF) in South America is reviewed here. Diseases of the circulatory system are the main cause of death based on data from about 50% of the South American population. Among the cardiovascular causes of death, cerebrovascular disease is predominant followed by ischaemic heart disease, other heart diseases and hypertensive disease. Of note, cerebrovascular disease is the main cause of death in women, and race also influenced cardiovascular mortality rates. HF is the most important cardiovascular reason for admission to hospital due to cardiovascular disease of ischaemic, idiopathic dilated cardiomyopathic, valvular, hypertensive and chagasic aetiologies. Also, mortality due to HF is high, especially owing to Chagas' disease. HF and aetiologies associated with HF are responsible for 6.3% of deaths. Rheumatic fever is the leading cause of valvular heart disease. The findings have important public health implications because the allocation of healthcare resources, and strategies to reduce the risk of HF should also consider controlling Chagas' disease and rheumatic fever in South American countries.

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Heart Failure in South America

Bocchi¹

2013

CCR

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Continued assessment of temporal trends in mortality and epidemiology of specific heart failure in South America is needed to provide a scientific basis for rational allocation of the limited health care resources, and strategies to reduce risk and predict the future burden of heart failure. The epidemiology of heart failure in South America was reviewed. Heart failure is the main cause of hospitalization based on available data from approximately 50% of the South American population. The main etiologies of heart failure are ischemic, idiopathic dilated cardiomyopathy, valvular, hypertensive and chagasic etiologies. In endemic areas, Chagas heart disease may be responsible by 41% of the HF cases. Also, heart failure presents high mortality especially in patients with Chagas etiology. Heart failure and etiologies associated with heart failure may be responsible for 6.3% of causes of deaths. Rheumatic fever is the leading cause of valvular heart disease. However, a tendency to reduction of HF mortality due to Chagas heart disease from 1985 to 2006, and reduction in mortality due to HF from 1999 to 2005 were observed in selected states in Brazil. The findings have important public health implications because the allocation of health care resources, and strategies to reduce risk of heart failure should also consider the control of neglected Chagas disease and rheumatic fever in South American countries.

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Cardiomiopatia restritiva por depósito de desmina

Abstract: Restrictive cardiomyopathies may have different etiologies, among which we can point out storage diseases by accumulation of different materials such as desmin. Desminopathies are uncommon diseases that progress with conduction abnormalities, peripheral myopathies, and

Cited by 3 publications

References 7 publications

The Multifaced Perspectives of Genetic Testing in Pediatric Cardiomyopathies and Channelopathies

The Multifaced Perspectives of Genetic Testing in Pediatric Cardiomyopathies and Channelopathies

Cardiomyopathy, adult valve disease and heart failure in South America

Heart Failure in South America

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