Idiopathic restrictive cardiomyopathy in the young: report of two cases

Rapezzi, Claudio; Ortolani, Paolo; Binetti, G; Picchio, Fernando Maria; Magnani, B

doi:10.1016/0167-5273(90)90214-p

Cited by 23 publications

(15 citation statements)

References 7 publications

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“…Patients with RCM generally show impaired diastolic function but normal or near normal systolic function until later stages of the disease, eventually leading to heart failure. Several cases of idiopathic restrictive cardiomyopathy in infants and young children (9 and 12 years) were characterized by severe and slowly progressive congestive heart failure (8,9). RCM has also been shown to be sometimes associated with skeletal muscle and orthopedic abnormalities (10).…”

mentioning

confidence: 99%

Mutations in Human Cardiac Troponin I That Are Associated with Restrictive Cardiomyopathy Affect Basal ATPase Activity and the Calcium Sensitivity of Force Development

Gomes

Liang

Potter

2005

Journal of Biological Chemistry

113

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Human cardiac Troponin I (cTnI) is the first sarcomeric protein for which mutations have been associated with restrictive cardiomyopathy. To determine whether five mutations in cTnI (L144Q, R145W, A171T, K178E, and R192H) associated with restrictive cardiomyopathy were distinguishable from hypertrophic cardiomyopathy-causing mutations in cTnI, actomyosin ATPase activity and skinned fiber studies were carried out. All five mutations investigated showed an increase in the Ca 2؉ sensitivity of force development compared with wildtype cTnI. The two mutations with the worst clinical phenotype (K178E and R192H) both showed large increases in Ca 2؉ sensitivity (⌬pCa 50 ‫؍‬ 0.47 and 0.36, respectively). Although at least one of these mutations is not in the known inhibitory regions of cTnI, all of the mutations investigated caused a decrease in the ability of cTnI to inhibit actomyosin ATPase activity. Mixtures of wild-type and mutant cTnI showed that cTnI mutants could be classified into three different groups: dominant (L144Q, A171T and R192H), equivalent (K178E), or weaker (R145W) than wild-type cTnI in actomyosin ATPase assays in the absence of Ca 2؉ . Although most of the mutants were able to activate actomyosin ATPase similarly to wild-type cTnI, L144Q had significantly lower maximal ATPase activities than any of the other mutants or wild-type cTnI. Three mutants (L144Q, R145W, and K178E) were unable to fully relax contraction in the absence of Ca 2؉ . The inability of the five cTnI mutations investigated to fully inhibit ATPase activity/ force development and the generally larger increases in Ca 2؉ sensitivity than observed for most hypertrophic cardiomyopathy mutations would likely lead to severe diastolic dysfunction and may be the major physiological factors responsible for causing the restrictive cardiomyopathy phenotype in some of the genetically affected individuals.

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confidence: 99%

Mutations in Human Cardiac Troponin I That Are Associated with Restrictive Cardiomyopathy Affect Basal ATPase Activity and the Calcium Sensitivity of Force Development

Gomes

Liang

Potter

2005

Journal of Biological Chemistry

113

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“…Recently, with the advancement of molecular biology, genetic factors, particularly mutations in sarcomeric protein genes, have been associated with the disease. Several case reports have described familiar RCM in childhood and most reported inherited RCM cases are described as autosomal dominate patterns [11]–[15]. Such finding allows the screening of individuals and families and permits the identification of people or groups most susceptible to the development of the disease.…”

Section: Introductionmentioning

confidence: 99%

Insights into restrictive cardiomyopathy from clinical and animal studies

Jean-Charles¹,

Li²,

Nan³

et al. 2011

Journal of Geriatric Cardiology

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Cardiomyopathies are diseases that primarily affect the myocardium, leading to serious cardiac dysfunction and heart failure. Out of the three major categories of cardiomyopathies (hypertrophic, dilated and restrictive), restrictive cardiomyopathy (RCM) is less common and also the least studied. However, the prognosis for RCM is poor as some patients dying in their childhood. The molecular mechanisms behind the disease development and progression are not very clear and the treatment of RCM is very difficult and often ineffective. In this article, we reviewed the recent progress in RCM research from the clinical studies and the translational studies done on diseased transgenic animal models. This will help for a better understanding of the mechanisms underlying the etiology and development of RCM and for the design of better treatments for the disease.

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“…However, small studies on defined samples in different populations suggest RCM is the least common form of cardiomyopathies [8]. In Western countries, RCM accounts for less than 5% of cardiomyopathic disorders but the prevalence varies in certain populations [34].…”

Section: Epidemiologymentioning

confidence: 99%

“…Reported mean age at diagnosis is between five and six years. Children in a family with a history of cardiomyopathy are thrice more likely to develop the disorder [8]. Undefined prevalence and incidence of RCM in the general population warrants a population-based epidemiology study to determine the exact distribution of the disorder globally and in different patient populations…”

Section: Epidemiologymentioning

confidence: 99%

Restrictive cardiomyopathy: A review of literature on clinical status and meta-analysis of diagnosis and clinical management

Albakri¹

2018

Pediatr Dimensions

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Restrictive cardiomyopathy is a myocardial disorder characterized by restrictive ventricular filling. It represents one of the three phenotypes originally classified by the World Health Organization besides dilated and hypertrophic cardiomyopathies. Of the three, it is the least common phenotype but has an ominous prognosis with the highest recorded rates of sudden cardiac death. Clinical trials investigating RCM have had varied findings. This is attributable to the current classification systems of cardiomyopathy based on morphological and structural alterations rather than etiologic-based. The classification has created etiological heterogeneity requiring a combination of methods for a confirmatory diagnosis as well as complicating clinical management methods, which lacks standardized guidelines and largely relies on the standard heart failure therapy. Thus, the present review discussed current research evidence to produce a comprehensive understanding of the clinical status of RCM, including its diagnosis and clinical management.

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Idiopathic restrictive cardiomyopathy in the young: report of two cases

Cited by 23 publications

References 7 publications

Mutations in Human Cardiac Troponin I That Are Associated with Restrictive Cardiomyopathy Affect Basal ATPase Activity and the Calcium Sensitivity of Force Development

Mutations in Human Cardiac Troponin I That Are Associated with Restrictive Cardiomyopathy Affect Basal ATPase Activity and the Calcium Sensitivity of Force Development

Insights into restrictive cardiomyopathy from clinical and animal studies

Restrictive cardiomyopathy: A review of literature on clinical status and meta-analysis of diagnosis and clinical management

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