Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations
J. Clin. Invest. Jens Mogensen, et al. 111:209 doi:10.1172/JCI16336 [Go to this article.]

Figure 2
Clinical features of restrictive cardiomyopathy in individual H417 affected by a de novo mutation in the gene for cardiac troponin I (Arg192His). (a) Apical four-chamber echocardiogram in systole of H417 at the age of 18 with marked bi-atrial dilatation (left atrial [LA] size, 64 mm), dilatation of pulmonary veins (PV), normal-sized ventricles and normal wall thickness. LV, left ventricle; RV, right ventricle; RA, right atrium. (b) 12-lead ECG in sinus rhythm with prominent P-waves in all leads, T-wave inversions, and incomplete right bundle branch block. (c) Microscopy of heart tissue obtained postmortem with myocyte hypertrophy, abundant interstitial fibrosis, and myofibril disarray equivalent to the histological findings in HCM patients (14, 15) (hematoxylin and eosin staining, ×40).