Subclinical myocardial dysfunction in Rett syndrome

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Subclinical myocardial dysfunction in Rett syndrome.

AIMS Rett syndrome (RTT) is a rare neurodevelopmental disorder frequently linked to methyl-CpG-binding protein 2 (MeCP2) gene mutations. RTT is associated with a 300-fold increased risk of sudden cardiac death. Rhythm abnormalities and cardiac dysautonomia do not to fully account for cardiac mortality. Conversely, heart function in RTT has not been explored to date. Recent data indicate a previ...

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Inflammation has been advocated as a possible common central mechanism for developmental cognitive impairment. Rett syndrome (RTT) is a devastating neurodevelopmental disorder, mainly caused by de novo loss-of-function mutations in the gene encoding MeCP2. Here, we investigated plasma acute phase response (APR) in stage II (i.e., "pseudo-autistic") RTT patients by routine haematology/clinical c...

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Subclinical Myocardial Dysfunction in Metabolic Syndrome Patients without Hypertension

BACKGROUND The aim of this study was to evaluate myocardial function in patients with non-hypertensive metabolic syndrome. METHODS We selected metabolic syndrome patients (n = 42) without evidence of hypertension and compared them to age-matched control individuals (n = 20). All patients were evaluated by two-dimensional and tissue Doppler echocardiography including tissue Doppler derived str...

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MeCP2 dysfunction in Rett syndrome and related disorders.

Rett syndrome, a neurodevelopmental disorder caused by mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2), is a leading cause of mental retardation with autistic features in females. MECP2 mutations have also been identified in individuals with a variety of clinical syndromes, including mild learning-disability in females, neonatal encephalopathy in males, and psychiat...

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ژورنال

عنوان ژورنال: European Heart Journal - Cardiovascular Imaging

سال: 2011

ISSN: 2047-2404,2047-2412

DOI: 10.1093/ejechocard/jer256