Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes

  title={Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes},
  author={Juan Pablo Kaski and Petros Syrris and Michael Burch and Mar{\'i}a Teresa Tom{\'e}-Esteban and Matthew J Fenton and Michael Christiansen and Paal Skytt Andersen and Neil James Sebire and Michael T. Ashworth and John Erik Deanfield and William J. McKenna and Perry M. Elliott},
  pages={1478 - 1484}
Background: Restrictive cardiomyopathy (RCM) is rare in childhood, but has a grave prognosis. The cause of disease in most cases is unknown. Objective: To determine the prevalence of sarcomere protein gene mutations in children with idiopathic RCM. Methods: Twelve patients (9 female, mean age 5.1 years) with idiopathic RCM referred between 1991 and August 2006 underwent detailed clinical and genetic evaluation. Nine had received cardiac transplants at the time of the study. The entire coding… 

Idiopathic restrictive cardiomyopathy - perspectives from genetics studies. Is it time to redefine these disorders?

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Restrictive cardiomyopathy

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Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.

A large family in which individuals were affected by either idiopathic RCM or hypertrophic cardiomyopathy was recognized, and linkage analysis to selected sarcomeric contractile protein genes identified cardiac troponin I (TNNI3) as the likely disease gene.

Novel Cardiac Troponin T Mutation as a Cause of Familial Dilated Cardiomyopathy

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Restrictive cardiomyopathies in childhood. Etiologies and natural history.

In conclusion, restrictive cardiomyopathy in childhood is commonly idiopathic or associated with cardiac hypertrophy, and the prognosis is poor; therefore, transplantation should be considered early.

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Data support literature suggesting that desmin deposition may be associated with different underlying gene defects, and that a novel desminopathy gene is responsible for the condition in this family.

First description of germline mosaicism in familial hypertrophic cardiomyopathy

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Idiopathic restrictive cardiomyopathy in children

Without transplantation, most children with restrictive cardiomyopathy have a very poor prognosis and longer survival from diagnosis was correlated with lower LA:Ao and cardiac filling pressures at diagnosis.

Cardiomyopathy in children

  • Su-chiung Chen
  • Medicine
    Current treatment options in cardiovascular medicine
  • 2001
Maximal medical therapy with inotropic drugs or cardiac glycosides, diuretic drugs, and angiotensin-converting enzyme inhibitors improve heart failure symptoms in patients with DCM and RCM and anticoagulation to prevent thromboembolism is indicated.

Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy.

Five generations of an Italian family with an autosomal dominant restrictive cardiomyopathy are described, characterised by normal ventricular size and systolic function with increased diastolic filling pressures in both ventricles and consequent bi-atrial enlargement.

Clinical profile and outcome of idiopathic restrictive cardiomyopathy.

Idiopathic restrictive cardiomyopathy or nondilated, nonhypertrophic ventricles with marked biatrial dilatation, as defined morphologically by echocardiography, affects predominantly elderly patients but can occur in any age group.