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

@article{Kaski2007IdiopathicRC,
  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},
  journal={Heart},
  year={2007},
  volume={94},
  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… 
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Restrictive cardiomyopathy

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Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy

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Furthering the link between the sarcomere and primary cardiomyopathies: Restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy

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References

SHOWING 1-10 OF 44 REFERENCES

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.

Hypertrophic Cardiomyopathy: Histopathological Features of Sudden Death in Cardiac Troponin T Disease

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.

Clinical and molecular studies of a large family with desmin‐associated restrictive cardiomyopathy

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

This is the first description of germline mosaicism shown by molecular genetic analysis in an autosomal dominant disorder and more especially in hypertrophic cardiomyopathy that had been inherited from the mother but did not affect her somatic cells.

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.

Idiopathic restrictive cardiomyopathy in childhood: diagnostic features and clinical course.

In this small group of patients, absence of pulmonary venous congestion most consistently predicted extended survival, and a combined 2-D and Doppler echocardiographic examination provides a reliable noninvasive means of assessing the physiologic and morphologic features of IRCM in children.

Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations.

The demonstration of hypertrophic cardiomyopathy arising within a pedigree coincident with the appearance of a de novo mutation provides compelling genetic evidence that beta cardiac MHC mutations cause this disease.