Dilated cardiomypathy

RBM20 mutations account for 3 % of genetic cardiomypathies and manifest with high penetrance and arrhythmogenic effects. Numerous mutations in the conserved RS domain have been described as causing dilated cardiomyopathy (DCM), whereas a particular mutation (p.R634L) drives development of a different cardiac phenotype: left-ventricular non-compaction cardiomyopathy. We generated a mutation-induced pluripotent stem cell (iPSC) line in which the RBM20-LVNC mutation p.R634L was introduced into a DCM patient line with rescued RBM20-p...

Peripartum cardiomyopathy (PPCM) is a potentially life-threatening pregnancy-associated disease that typically arises in the third trimester or up to six months postpartum. This case report focuses on a multigravida patient that has been pregnant a total of 12 times. The patient had no known past medical history apart from pre-eclampsia. Information related to this disease is scarce, and its pathophysiology remains poorly understood. This case report will further enhance scientific as well as medical literature by improving healthcare providers' knowledge and understanding of PPCM, which will ultimately improve patient outcomes through swift recognition and early treatment initiation...

A single missense variant of the TMPO /LAP2α gene, encoding LAP2 proteins, has been associated with cardiomyopathy in two brothers. To further evaluate its role in cardiac muscle, we included TMPO in our cardiomyopathy diagnostic gene panel. A screening of ~5000 patients revealed three novel rare TMPO heterozygous variants in six males diagnosed with hypertrophic or dilated cardiomypathy. We identified in different cellular models that (1) the frameshift variant LAP2α p.(Gly395Glufs*11) induced haploinsufficiency, impeding cell proliferation and/or producing a truncated protein mislocalized in the cytoplasm; (2) the C-ter missense variant LAP2α p...

Nonischemic dilated cardiomyopathy is deadly and costly, and treatment options are limited. Cardiac rehabilitation has proved safe and beneficial for adults with various types of heart failure. Therefore, we retrospectively evaluated the hypothesis that rehabilitation is safe and improves cardiometabolic health in young patients with nonischemic dilated cardiomypathy. From 2011 through 2015, 8 patients (4 males) (mean age, 20.6 ± 6.6 yr; range, 10-31 yr) underwent rehabilitation at our institution. They were in American Heart Association class C or D heart failure and were on maximal medical therapy...

Coxsackievirus B(3)(CVB(3)) infection is the major cause of viral myocarditis, as well as dilated cardiomypathy. Rhubarb is one of the oldest and best-known traditional Chinese medicines. We initiated this study to determine the antiviral effect of an ethanol extract from the roots and rhizoma of Rheum palmatum (R. palmatum, one of the Chinese Rhubarbs), against CVB(3) in tissue culture cells and in a mouse model. The ethanol extract from R. palmatum showed significant inhibitory activity against CVB(3) on HEp-2 cells when added after infection, with IC(50) of 4 μg/ml, TI of 10...

KEY POINTS AND RECOMMENDATIONS: •  In addition to hypertension, angiotensin-converting enzyme inhibitors are indicated for treatment of patients at high risk for coronary artery disease, after myocardial infarction, with dilated cardiomypathy, or with chronic kidney disease. •  The most familiar angiotensin-converting enzyme subtype, angiotensin-converting enzyme-1 (kininase II), cleaves the vasoconstrictor octapeptide angiotensin II from its inactive decapeptide precursor, angiotensin I, while simultaneously inactivating the vasodilator bradykinin...

Cardiomyopathies are myocardial diseases in which there is structural and functional disorder of the heart muscle, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease. Cardiomyopathies are grouped into specific morphological and functional phenotypes: dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy and unclassified cardiomyopathies. Patients with dilated and hypertrophic cardiomypathy are prone to the development of congestive heart failure in the perioperative period...

Diagnosis of primarly cardiomypathies refers to genes discorders in chromosomes. Aim of this paper is to show genetics and molecular knowledges published so far. Familiar form hypertrophic cardiomyopathy is hereditable autosomatically dominantly in any of 10 genes that regulate contractile, structural and regulative function with predomination of mutation in gene for heavy chaire of myocardiac beta myosin localized at 14 chromosome (more than 200 mutation). Sporadic forms appears autosomatically recessively as the result of new mutation or as non-genetic form...

BACKGROUND: Little is known of the outcome of pregnant patients with previously diagnosed dilated cardiomyopathy. These patients are usually firmly advised against continuation of the pregnancy. OBJECTIVES: To examine the usefulness of serial echocardiographic follow-up and plasma N-terminal pro-B type natriuretic peptide levels in the management of pregnant women with preexisting DCM. METHODS: We prospectively enrolled pregnant women with DCM either known or diagnosed in the first trimester...

Dilated cardiomypathies (DCM) are characterized by dilatation and pump dysfunction of the heart. DCM has an incidence of 6/100.000 people a year contributing to a considerable number of cases of heart failure. Although etiology and pathogenesis are known to be multifactorial, they remain mostly unidentified. Recent research identified patients affected with DCM with altered gene products. These alterations can roughly be grouped into causative genes, mostly coding for cytoskeletal proteins. Other genes seem to be activated after the disease onset and are able to influence the clinical course...

Malignant glucagonoma is an exceptional pancreatic endocrine tumour, with frequent dermatologic symptoms, diabetes and degradation of the general health status. Prognosis is unfavourable when liver metastases are present due to the usual inefficiency of chemotherapy. We report here an observation of a patient who was treated for a glucagonoma with multiple liver metastases, migratory necrolytic erythema, dilated cardiomypathy and diabetes that dramatically improved after a dacarbazin-based chemotherapy, allowing subsequent surgical resection of the primary...

A heart involvement known as Lyme carditis (LC), a consequence of Lyme borreliosis (LB), is relatively rare in contrast to the involvement of skin, joints and nervous system; it accounts for < 4% of all these patients in European countries. However, the diagnosis of the disease belongs to the most difficult challenges. While various forms of AV blocks dominate in the USA as confirmed by the literature, there is a clear predominance of arrhythmias of various incidence in the Czech Republic. The authors of this article focused on the form belonging to the rarest manifestations of LC, namely dilated cardiomyopathy (DCMP)...

Echocardiography is a valuable tool for the evaluation of systolic and diastolic cardiac function. A high correlation between measurements of diastolic mitral inflow parameters analyzed with Doppler echocardiography and invasive methods makes the former valuable. The aim of this study was to ascertain if significant differences occur in diastolic myocardial parameters between dogs with no heart disease and dogs with subclinical or clinical dilated cardiomyopathy. Furthermore the aim of the study was to determine whether heart failure in dilated cardiomypathy is a result of systolic dysfunction alone or both systolic and diastolic dysfunction...

Tachycardia-induced cardiomypathy is a potentially reversible form of left ventricular dysfunction and heart failure that is often neglected in clinical practice. Three case-reports of tachycardia-induced cardiomyopathy associated with three different tachyarrhythmias, cured by catheter ablation, are presented. All cases were characterized by specific clinical conditions. Potential consequences of inadequate clinical analysis and treatment are discussed.

UNLABELLED: Axial flow pumps have gained increased acceptance since their first clinical use in 1998. The present report summarizes the clinical experience with patients treated for severe cardiogenic shock for the first time with a newly developed axial flow pump with magnetically levitated bearings. MATERIAL AND METHODS: The axial flow pump Incor was implanted in 24 patients between June 2002 and June 2003. All except one patient were men. In 16 patients dilative cardiomyopathy, in seven ischemic and in one restrictive cardiomypathy had been diagnosed...

A model of chronic heart failure has been induced in dogs by repeated intracoronary infusion of doxorubicin, which is an antineoplastic medication that has dose-limiting cardiotoxic side effects. Although many of the dogs receiving doxorubicin develop typical signs of dilated cardiomypathy over 4-6 weeks, some of them suddenly die before completing the four weekly infusions of the drug. The present study was undertaken to determine whether such sudden death may be caused by the development of fatal arrhythmias during doxorubicin treatment...

OBJECTIVE: Ultrasound revealed evidence of pericardial effusion in 13 out of 26 children with coeliac disease. In a prospective study, we tried to analyse the causes underlying this high incidence of pericardial effusion. PATIENTS AND METHODS: Twenty-six patients were evaluated. Coeliac disease was diagnosed by intestinal biopsy. All children underwent sonography and a laboratory work-up including endomysial antibodies and serum selenium and iron concentrations...

Preparation of a pure autoantigen by way of recombinant DNA technology has an important value in an accurate diagnosis or prognosis of an autoimmune disease. BCOADC-E2 subunit, a mitochondrial protein, has been known to be the autoantigen of primary biliary cirrhosis (PBC), a chronic autoimmune liver disease, as well as idiopathic dilated cardiomypathy (IDCM), a chronic autoimmune heart disease. Recombinant form of this molecule had been expressed in E. coli but with low yield and severe degradation. Furthermore, sera from IDCM patients failed to recognized BCOADC-E2 molecule produced in prokaryotic expression system...

Chylothorax associated with congestive cardiomypathy was diagnosed in a 10-year-old male castrated domestic shorthair cat via analysis of pleural fluid. The triglyceride concentration in the pleural fluid was high (579 mg/dl), compared with that in serum (87 mg/dl), and the fluid cleared with ether. Evidence of atrial and left ventricular enlargement was found via electrocardiography and thoracic radiography. Left-sided cardiac dilatation and reduced systolic motion of the left ventricle were revealed by echocardiography...