Search results for "Hypertrophic Cardiomyopathy"
showing 10 items of 22 documents
Small RNA-seq analysis of circulating miRNAs to identify phenotypic variability in Friedreich's ataxia patients.
2018
AbstractFriedreich’s ataxia (FRDA; OMIM 229300), an autosomal recessive neurodegenerative mitochondrial disease, is the most prevalent hereditary ataxia. In addition, FRDA patients have shown additional non-neurological features such as scoliosis, diabetes, and cardiac complications. Hypertrophic cardiomyopathy, which is found in two thirds of patients at the time of diagnosis, is the primary cause of death in these patients. Here, we used small RNA-seq of microRNAs (miRNAs) purified from plasma samples of FRDA patients and controls. Furthermore, we present the rationale, experimental methodology, and analytical procedures for dataset analysis. This dataset will facilitate the identificatio…
High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations
2016
International audience; AIMS: Mutations in PRKAG2, the gene encoding for the γ2 subunit of 5'-AMP-activated protein kinase (AMPK), are responsible for an autosomal dominant glycogenosis with a cardiac presentation, associating hypertrophic cardiomyopathy (HCM), ventricular pre-excitation (VPE), and progressive heart block. The aim of this study was to perform a retrospective time-to-event study of the clinical manifestations associated with PRKAG2 mutations.METHODS AND RESULTS: A cohort of 34 patients from 9 families was recruited between 2001 and 2010. DNA were sequenced on all exons and flanking sequences of the PRKAG2 gene using Sanger sequencing. Overall, four families carried the recur…
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
2011
Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities. De novo germline mutations in the proto-oncogene HRAS cause Costello syndrome. Most mutations affect the glycine residues in position 12 or 13, and more than 80% of patients share p.G12S. To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p…
Quantitative criteria for the diagnosis of the congenital absence of pericardium by cardiac magnetic resonance
2015
Congenital absence of the left ventricular pericardium (LCAP) is a rare and poorly known cardiac malformation. Cardiac Magnetic Resonance (CMR) is generally used for the diagnosis of LCAP because of its high soft tissue contrast, multiplanarity and cine capability, but the diagnosis is usually made by only qualitative criteria. The aim of the present study was to establish quantitative criteria for the accurate diagnosis of LCAP on CMR.We enrolled nine consecutive patients affected by LCAP (mean age 26±8years, 7 males), 13 healthy controls, 13 patients with dilated cardiomyopathy (DCM), 12 patients with hypertrophic cardiomyopathy (HCM) and 13 patients with right ventricular overload (RVO).…
Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry dis…
2008
Fabry disease is an X-chromosomal storage disorder due to loss-of-function mutations of the GLA gene encoding the lysosomal enzyme α-galactosidase A. Accumulating glycosphingolipid deposits disturb the function of various cells, in particular that of myocytes, arterial smooth-muscle cells, and vascular endothelium. Hypertrophic cardiomyopathy, for example measured by left posterior wall thickness (LPWT) of the heart, represents a major component of Fabry disease morbidity in adult patients. Endothelium-derived nitric oxide (eNO), produced by eNO synthase (eNOS), is a key regulator of vessel wall function and cardiovascular homeostasis. We analysed the effect of the polymorphisms c.894G > T …
Assessment of atrial diastolic function in patients with hypertrophic cardiomyopathy by cine magnetic resonance imaging
2015
Purpose: This study was conducted to assess the role of atrial function by cardiac magnetic resonance (CMR) for the evaluation of diastolic physiology in patients with hypertrophic cardiomyopathy (HCM) compared to healthy controls. Materials and methods: We enrolled 23 consecutive patients affected by HCM and 43 healthy subjects as age-matched control cases (CC). CMR was performed through acquisition of cine steady-state free precession sequences using a 1.5-T scanner. Image postprocessing was carried out using Tracking Tool software. Results: Atrial volumes were significantly higher in patients with HCM compared to CC: maximum atrial volume (p = 0.007) and minimum atrial volume (p = 0.01).…
Sudden Cardiac and Noncardiac Death in Sports: Epidemiology, Causes, Pathogenesis, and Prevention
2018
AbstractAlthough few doubts remain that physical exercise should be widely promoted for maintenance of health and fitness, the risk of adverse events such as sudden death (especially due to cardiac causes, i.e., sudden cardiac death [SCD]) during exercise remains tangible. The overall risk of sudden death in athletes is relatively low (i.e., usually comprised between 0.1 and 38/100,000 person-years), and globally comparable to that of the general population. However, up to 20% of all sudden death cases are still recorded while exercising. The most frequent underlying disorders encountered in SCD are hypertrophic cardiomyopathy and coronary artery disease (CAD), representing three quarters o…
Noonan-Syndrom mit der ungew�hnlichen Kombination von hypertropher Kardiomyopathie, konnatal bikuspider Aortenklappe und Aortenisthmusstenose mit hyp…
2004
Das Noonan-Syndrom ist gekennzeichnet durch kraniofaziale Dysmorphien wie Ptosis der Augenlider, Pterygium colli und durch einen tiefen nuchalen Haaransatz, durch Skelettveranderungen wie Kleinwuchs, Klinodaktylie, Kiel- und Trichterbrust und durch Organfehlbildungen, hauptsachlich Herzfehler, seltener einer Retentio testis und Nierenfehlbildungen. Das Noonan-Syndrom weist ein ahnliches Erscheinungsbild auf wie das Ullrich-Turner-Syndrom. Im Gegensatz zu dieser Chromosomenaberration sind aber Patienten beiderlei Geschlechts betroffen, sie weisen einen unauffalligen Chromosomensatz (46, XX bzw. 46, XY) auf und sind zeugungsfahig. Bei etwa der Halfte der Patienten mit Noonan-Syndrom bestehen …
P1475Impact of automatic screening and parasternal rights positions in the eligibility of patients with hypertrophic cardiomyopathy for subcutaneous …
2020
Abstract Background A high percentage of failures in the detection of QRS and T wave in patients (pts) with hypertrophic cardiomyopathy (HCM) have been reported. This finding would prevent them from being eligible for an implantable subcutaneous automatic defibrillator (S-ICD). However, recently 2 changes in the detection have been proposed, automatic screening and the use of right parasternal position of the lead. The aim of our work was to study if the elegibility proportion of patients was increased with both 2 advacements. Methods We included 31 patients (18 male)with a diagnosis of HCM and at least 1 risk factor for sudden death, in follow-up at the outdoor clinic of of 2 cardiology …
Inhibition of class I histone deacetylase with an apicidin derivative prevents cardiac hypertrophy and failure
2008
AIMS: Recent studies have demonstrated the importance of chromatin remodelling via histone acetylation/deacetylation for the control of cardiac gene expression. Specific histone deacetylases (HDACs) can, in fact, play a positive or negative role in determining cardiac myocyte (CM) size. Here, we report on the effect on hypertrophy development of three inhibitors (HDACi) of class I HDACs. METHODS AND RESULTS: The compounds were first analysed in vitro by scoring hypertrophy, expression of foetal genes, and apoptosis of neonatal rat CMs stimulated with phenylephrine, an alpha1-adrenergic agonist. This initial screening indicated that a truncated derivative of apicidin with class I HDAC specif…