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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Myocardial infarction is a common life-threatening condition. Multiple agents can be used to treat acute coronary syndrome (ACS). These therapeutic agents pose potential life-threatening complications when used outside the realm of the acute coronary syndrome. Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disorder, occurring in 1 in 500 individuals, which may mimic ACS. The hypertrophy most typically involves the septum in patients with HCM. As many as 25% of Japanese patients with HCM have predominately apical involvement. Apical hypertrophic cardiomyopathy (AHC) occurs in only 1 to 2% of the non-Japanese population. Despite its low incidence, physicians caring for patients with chest pain need to consider AHC in their differential diagnosis. We present the case of a patient with chest pain and electrocardiographic changes suggestive of ACS who was later found to have AHC.
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PMID:Uncommon cause of a common disease. 1451 31

Our objective was to study neonates born to insulin-dependent diabetes mellitus (IDDM) mothers to detect the spectrum of congenital heart disease (CHD). Between July 2000 and June 2001, a prospective study of 100 consecutive infants of diabetic mothers (IDMs) at King Khalid University Hospital in Riyadh was undertaken. Family and maternal history, physical examination with special attention to the cardiovascular system, and echocardiography were performed. A total of 100 consecutive IDMs examined. The most common echocardiographic findings were patent ductus arteriosus (PDA; 70%), patent foramen ovale (68%), atrial septal defect (5%), small muscular ventricular septal defect (4%), mitral valve prolapse (2%), and pulmonary stenosis (1%). Hypertrophic cardiomyopathy (HCMP) was observed in 38% of cases, mainly hypertrophy of the interventricular septum. Severe forms of CHD encountered were D-transposition of great arteries, tetralogy of Fallot, and hypoplastic left heart syndrome (1% each). Isolated aortic stenosis and coarctation of aorta were not encountered in this series. Overall incidence of congenital heart disease was 15% after excluding PDA and HCMP. Maternal IDDM is a significant risk factor for CHD. Careful evaluation and early diagnosis of CHD in this high-risk group are highly indicated. There is a need for development of prenatal screening programs for CHD in our population.
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PMID:Congenital heart disease in infants of diabetic mothers: echocardiographic study. 1694 34

Hypertrophic cardiomyopathy (HCM) is a heterogeneous genetic cardiac disorder with various genotypic and phenotypic manifestations, and is often a diagnostic challenge. Although more than forty years have passed since the first description of HCM, a variety of mutations in genes encoding sarcomeric proteins, that cause the disease have been defined by laboratory and clinical studies over the past few years. The fact that HCM is the most common cause of sudden death in young competitive athletes and that, it is actually an important cause of morbidity and mortality in people of all ages, has made the researchers to concentrate more on the molecular basis and treatment strategies of the disease. This study aims to summarize both pathological features and rapidly evolving molecular genetics of HCM, and so to understand this not infrequently seen, complex disorder better.
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PMID:Hypertrophic cardiomyopathy: pathological features and molecular pathogenesis. 1575 11

Hypertrophic cardiomyopathy (HCM) is a disorder which has fascinated clinicians for many years. The remarkable diversity in clinical presentations, ranging from no symptoms to severe heart failure and sudden cardiac death, illustrates the complexity of this disorder. Over the last decade, major advances have been made in our understanding of the molecular basis of several cardiac conditions. HCM was the first cardiac disorder in which a genetic basis was identified and as such, has acted as a paradigm for the study of an inherited cardiac disorder. At least eleven genes have now been identified, defects in which cause HCM. Most of these genes encode proteins which comprise the basic contractile unit of the heart, i.e. the sarcomere. Genetic studies are now beginning to have a major impact on diagnosis in HCM, as well as in guiding treatment and preventative strategies. While much is known about which genes cause disease, relatively little is known about the molecular steps leading from the gene defect to the clinical phenotype, and what factors modify the expression of the mutant genes. Concurrent studies in cell culture and animal models of HCM are now beginning to shed light on the signalling pathways involved in HCM, and the role of both environmental and genetic modifying factors. Understanding these basic molecular mechanisms will ultimately improve our knowledge of the basic biology of heart muscle function, and will therefore provide new avenues for diagnosis and treatment not only for HCM, but for a range of cardiovascular diseases in man.
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PMID:Hypertrophic cardiomyopathy: from "heart tumour" to a complex molecular genetic disorder. 1635 63

Sports arrhythmia has gained wide attention with the mediatization of the death of famous sports stars. Sport strongly modifies the structure of the heart with the development of left ventricular hypertrophy which may be difficult to differentiate from that due to doping. Intense training modifies also the resting electrocardiogram with appearance of signs of left ventricular hypertrophy whereas resting sinus bradycardia and atrioventricular conduction disturbances usually reverts upon exertion. Accordingly, arrhythmia may develop ranging from extrasystoles to atrial fibrillation and even sudden death. Recent data suggest that if benign arrhythmia may be the result of the sole intense training and are reversible, malignant ventricular arrhythmia and sudden death mostly occur in unknown structural heart disease. Hypertrophic cardiomyopathy is amongst the most frequent post mortem diagnosis in this situation. Doping is now present in many sports and further threatens the athlete in the safe practice of sport.
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PMID:[Arrhythmia and sport]. 1643 43

Hypertrophic cardiomyopathy (HCM) is a complex and relatively common genetic heart disease. HCM is caused by mutations of genes encoding sarcomeric contractile proteins and it is characterized by heterogeneous pattern of left ventricular hypertrophy with dynamic obstruction of left ventricular outflow tract. HCM is associated with both impaired left ventricular contractility and diastolic function. Using Doppler echocardiography, we are able to assess left ventricular diastolic function and measure left ventricular outflow gradient. Tissue Doppler imaging of mitral annulus is able to discriminate genotype-positive patients which allows us to improve diagnostic sensitivity of echocardiography. The Tei index is a new Doppler index, combining systolic and diastolic time intervals as an expression of global myocardial performance ("index of myocardial performance"). Non-pharmacologic treatment of obstructive HCM (alcohol septal ablation) is associated with improvement of Tei index. Doppler echocardiography is an indispensable tool in the management of HCM.
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PMID:[Role of Doppler echocardiography in the diagnostics and therapy of hypertrophic cardiomyopathy]. 1663 27

Fetal dysrhythmias are usually transient. Abnormal fetal rates and rhythms during labor are "functional." Fetal dysrhythmias may be associated with congenital heart disease and fetal hydrops. Bradycardia is usually related to fetal distress; supraventricular tachycardia, atrial flutter, and atrial fibrillation may be associated with severe congestive heart failure. Ventricular fibrillation is rare in the fetus and infant and is usually associated with myocardial necrosis with perimembranous septal defect; the nonbranching atrioventricular (AV) bundle may have an aberrant position and result in cardiac arrhythmia. Wolff-Parkinson-White syndrome with conduction abnormalities and left ventricular hypertrophy (LVH) is due to an accessory pathway that bypasses the AV sulcus and results in faster conduction. Carnitine deficiency may be primary or secondary and may result in cardiac arrhythmia. Histiocytoid cardiomyopathy is characterized by cardiomegaly, incessant ventricular tachycardia, and frequently sudden death. Arrhythmogenic right ventricular dysplasia (ARVD) results in ventricular tachycardia and left bundle branch block. Noncompaction of the left ventricle predisposes to potentially fatal arrhythmias. Long Q-T syndromes (LQTS) are a heterogeneous group of disorders with many genetic mutations. Brugada syndrome is an autosomal dominant trait with right bundle branch block and ST elevation. Barth syndrome is an X-linked disorder with dilated cardiomyopathy, cyclic neutropenia and skeletal myopathy. Hypertrophic cardiomyopathy in infancy may be related to metabolic diseases, particularly glycogen storage diseases; the familial form predisposes to sudden death. Arrhythmias following cardiac surgery may occur after closure of a ventricular septal defect (VSD) or damage to the conduction system.
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PMID:Pathogenesis of cardiac conduction disorders in children genetic and histopathologic aspects. 1696 59

Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disorder characterized by unexplained myocardial hypertrophy. The condition is associated with sudden cardiac death and is therefore often diagnosed postmortem, especially in the young and in competitive athletes. For this reason, intense research focuses on developing strategies to minimize this tragic consequence. Cardiovascular magnetic resonance (CMR) is a novel imaging modality that provides high-resolution images in an infinite number of planes with additional sequences that allows for tissue characterization and quantification of flow. The most exciting development is the application of late gadolinium-enhanced (LGE) imaging, which allows for in vivo detection of myocardial fibrosis. This review summarizes the current applications of CMR in HCM and also speculates on future applications, particularly the potential for risk stratification using LGE-CMR.
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PMID:Use of cardiovascular magnetic resonance for diagnosis and management in hypertrophic cardiomyopathy. 1736 85

Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disorder that characterized by marked thickening of the left ventricular wall that occurs in the absence of increased external load. HCM is the most common cause of sudden cardiac death under 35 years and in addition causes heart failure. HCM is usually inherited as an autosomal dominant mutation in genes that encode protein constituents of the sarcomere. To date, more than 450 different mutations have been identified within 13 myofilament-related genes. This review focuses current research involved in the discovery of other causative genes, investigation of the mechanisms by which sarcomere genes mutations produce hypertrophy and arrhythmia, and identification of modifying factors that influence clinical expression in HCM patients. The clinical implications of molecular advances in HCM are discussed.
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PMID:Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics. 1791 52

Hypertrophic cardiomyopathy (HCM), defined clinically by the presence of unexplained left ventricular hypertrophy, is the most common inherited cardiac disorder. This condition is the major cause of sudden death in the young (<30 years of age) and in athletes. The clinical phenotype is heterogeneous, and mutations in a number of sarcomeric contractile-protein genes are responsible for causing the disease in approximately 60% of individuals with HCM. Other inherited syndromes, as well as metabolic and mitochondrial disorders, can present as clinical phenocopies and can be distinguished by their associated cardiac and noncardiac features and on the basis of their unique molecular genetics. The mode of inheritance, natural history and treatment of phenocopies can differ from those of HCM caused by mutations in sarcomere genes. Detailed clinical evaluation and mutation analysis are, therefore, important in providing an accurate diagnosis in order to enable genetic counseling, prognostic evaluation and appropriate clinical management. This Review summarizes current knowledge on the genetics, disease mechanisms, and correlations between phenotype and genotype in patients with HCM, and discusses the implications of genetic testing in routine clinical practice.
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PMID:Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression. 1822 14


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