Restrictive cardiomyopathies in the pediatric population have diverse etiologies, including storage diseases like hemosiderosis, glycogenoses and desmin with its associated proteins. Desmin-related myopathy is a rare familial disorder of the cardiac and skeletal muscle characterized by intrasarcoplasmic accumulation of desmin-reactive deposits in the muscle cells. The patients commonly present ...

When diagnosing a restrictive hypertrophied cardiomyopathy, most echocardiographists consider cardiac amyloidosis as a possible cause, especially after the appearance of 'granular' sparkling echoes on a transthoracic echocardiography. However, other infiltrative diseases (i.e. metabolic myopathies, Gaucher, Hunter's, and Hurler's diseases) or storage cardiomyopathies (haemochromatosis, Fabry's ...

In this paper, assuming that there is an intermediate functional category called Agreement Phrase (AGRP) in DP, I argue that an adnominal modifier such as a pre-nominal adjective or relative clause (RC) is base-generated in Spec,AGRP. In particular, I distinguish between Restrictive Adnominal Modifiers (RAM) and Non-restrictive Adnominal Modifiers (NAM), and argue that the NAM in head-final lan...

Objective: To analyse the relation between restrictive mitral pattern, amino-terminal propeptide of type III procollagen (PIIINP), and prognosis in patients with dilated cardiomyopathy. Design: Prospective cohort study of 106 patients with dilated cardiomyopathy. Setting: Tertiary care centre. Main outcome measures: PIIINP concentration, echocardiographic variables, oxygen consumption, hospital...

BACKGROUND About 2-7% of familial cardiomyopathy cases are caused by a mutation in the gene encoding cardiac troponin I (TNNI3). The related clinical phenotype is usually severe with early onset. Here we report on all currently known mutations in the Dutch population and compared these with those described in literature. METHODS TheTNNI3 gene was screened for mutations in all coding exons and...