SCIENTIFIC BACKGROUND

DES, FLNC, MYBPC3, MYH7, TNNI3, TNNT2

Scientific Background

Restrictive cardiomyopathy (RCM) is a rare cardiomyopathy, characterized by restricted ventricular filling and reduced diastolic volume with normal systolic function and normal or almost normal myocardial thickness. The disorder has an unfavorable prognosis, especially if it already manifests during childhood. In that case, heart transplantation is usually a necessary procedure.

 

In a study, seven out of ten independent RCM patients displayed mutations in TNNI3. Other causative genes have been identified in single RCM cases, including troponin T (TNNT2), alpha-cardiac-actin (ACTC1), and desmin (DES) in RCM with AV block.

 

References

Kiselev et al. 2018, Hum Mutat 39:1161 / Paravatiyar et al. 2015, J Biochim Biophys Acta 1850:365 / Paravatiyar et al. 2010, J Biomed Biotechnol Jun 8 / Kaski et al. 2008, Heart 94:1478 / Mogensen et al. 2003, J Clin Inv 111:209

GENES

DES, FLNC, MYBPC3, MYH7, TNNI3, TNNT2
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