Search results for "Cardiomyopathy"
showing 10 items of 242 documents
D-2-hydroxyglutarate produced by mutant IDH2 causes cardiomyopathy and neurodegeneration in mice.
2014
Mutations in isocitrate dehydrogenase 1 and 2 (IDH1/2) have been discovered in several cancer types and cause the neurometabolic syndrome D2-hydroxyglutaric aciduria (D2HGA). The mutant enzymes exhibit neomorphic activity resulting in production of D2-hydroxyglutaric acid (D-2HG). To study the pathophysiological consequences of the accumulation of D-2HG, we generated transgenic mice with conditionally activated IDH2R140Q and IDH2R172K alleles. Global induction of mutant IDH2 expression in adults resulted in dilated cardiomyopathy, white matter abnormalities throughout the central nervous system (CNS), and muscular dystrophy. Embryonic activation of mutant IDH2 resulted in more pronounced ph…
Genome wide association analysis in dilated cardiomyopathy reveals two new key players in systolic heart failure on chromosome 3p25.1 and 22q11.23
2020
SummaryWe present the results of the largest genome wide association study (GWAS) performed so far in dilated cardiomyopathy (DCM), a leading cause of systolic heart failure and cardiovascular death, with 2,719 cases and 4,440 controls in the discovery population. We identified and replicated two new DCM-associated loci, one on chromosome 3p25.1 (lead SNP rs62232870, p = 8.7 × 10−11 and 7.7 × 10−4 in the discovery and replication step, respectively) and the second on chromosome 22q11.23 (lead SNP rs7284877, p = 3.3 × 10−8 and 1.4 × 10−3 in the discovery and replication step, respectively) while confirming two previously identified DCM loci on chromosome 10 and 1, BAG3 and HSPB7. The genetic…
Desmin‐related Myopathies
2006
Outstanding progress in elucidating the pathology of muscular disorders at light and electron microscopic levels has allowed the identification of proteins involved in pathological alterations. This, in turn, has led to discoveries of multiple genes and mutations associated with previously poorly understood conditions. An unexpected result is that phenotypically similar and pathogenetically related neuromuscular disorders are associated with mutations in one or the other of several interacting proteins. Keywords: desmin-related myopathy; distal myopathy; cardiomyopathy; desmin and alpha-B crystallin gene mutations; functional analysis; molecular pathogenesis; genotype–phenotype correlations
Intermediate Filament Diseases: Desminopathy
2008
Desminopathy is one of the most common intermediate filament human disorders associated with mutations in closely interacting proteins, desmin and alphaB-crystallin. The inheritance pattern in familial desminopathy is characterized as autosomal dominant or autosomal recessive, but many cases have no family history. At least some and likely most sporadic desminopathy cases are associated with de novo DES mutations. The age of disease onset and rate of progression may vary depending on the type of inheritance and location of the causative mutation. Typically, the illness presents with lower and later upper limb muscle weakness slowly spreading to involve truncal, neck-flexor, facial and bulba…
THE NONCOMPACTION OF THE LEFT VENTRICULAR MYOCARDIUM: OUR PEDIATRIC EXPERIENCE
2007
OBJECTIVES: The noncompaction of the left ventricular myocardium is a rare congenital heart disease, characterized by an excessive prominence of trabecular meshwork, spaced out by deep intertrabecular recesses, consequent to the arrest of the normal myocardium embryogenesis. Although there are numerous descriptions, the physiopathological effects of the structural alterations, just like the clinical spectrum and the evolution of the disease, are not totally clarified. In the present study, we have evaluated the natural history of the disease, the familial incidence and the alterations of the systolic and diastolic function. METHODS: We collected a series of 21 young patients who were affect…
Liver transplantation and combined liver-heart transplantation in patients with familial amyloid polyneuropathy: A single-center experience
2010
Liver transplantation (LT) is the only curative option for patients with familial amyloid polyneuropathy (FAP) at present. Twenty patients with FAP underwent LT between May 1998 and June 2007. Transthyretin mutations included predominantly the Val30Met mutation but also 10 other mutations. Seven patients received a pacemaker prior to LT, and because of impairment of mechanical cardiac function, 4 combined heart-liver transplants were performed, 1 simultaneously and 3 sequentially. The first patient, who underwent simultaneous transplantation, died. Seven patients died after LT, with 5 dying within the first year after transplantation. The causes of death were cardiac complications (4 patien…
SYMPTOMATIC ACUTE MYOCARDIAL INFARCTION IN A PATIENT BEARER OF HEART TRANSPLANTATION FOLLOWING ISCHEMIC HEART DISEASE
2008
In 2005 Syeda et al. reported that the major factor limiting the long term of cardiac transplantation is the development of accelerated arteriosclerosis that occurs in the coronary arteries of the cardiac allograft. Transplant arteriosclerosis is characterized by diffuse, uniform, concentric narrowing of the artery by a fibrous proliferation of sub-intima cells. This atherosclerosis was estimate to occur in approximately 50% of patients by 5 years after transplantation. Unfortunately, as a consequence of cardiac denervation, symptoms are often atypical or completely absent. When these are present, the symptoms are those typical of effort angina. Very uncommon is the acute coronary syndrome.…
Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy
2006
UNLABELLED Fatal infantile cardioencephalomyopathy (OMIM No. 604377) is a disorder of the mitochondrial respiratory chain and is characterised by neonatal progressive muscular hypotonia and cardiomyopathy because of severe Cytochrome c oxidase deficiency. Here we report a novel mutation in the Cytochrome c oxidase assembly gene SCO2 in an infant with fatal infantile cardioencephalomyopathy despite normal initial metabolic screening. CONCLUSION In newborns with unexplained muscular hypotonia and cardiomyopathy genetic testing of mitochondrial respiratory chain disorders might be helpful to establish a final diagnosis and guide treatment decisions.
Ischemic and non-ischemic dilated cardiomyopathy
2014
Abstract Dilated Cardiomyopathy is a high-incident disease, which diagnosis of and treatments are clinical priority. The aim of our study was to evaluate the diagnostic potential of cardiac magnetic resonance (CMR) imaging; echocardiography and the biochemical parameters that can help us differentiate between the post-ischemic and non-ischemic dilated cardiomyopathy. Materials and methods. The study enrolled 134 patients with dilated cardiomyopathy: 74 with the post-ischemic form and 60 with the non-ischemic one. All patients underwent a coronary imaging test, with echocardiogram, cardiac magnetic resonance and a blood test. Pro-inflammatory cytokines were evaluated using Luminex kit. Data …
Cardiomyopathic lentiginosis: an echo-Doppler report
1995
We report a case of a 64-year-old woman with cardiomyopathic lentiginosis. All the echocardiographic features of a hypertrophic obstructive cardiomyopathy were detected, with an accurate noninvasive measure of the left ventricle outflow gradient.