Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018801 (heart failure)
 72,216 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hypertrophic cardiomyopathy (HCM) is a relatively common genetic cardiac disorder with heterogeneous morphological, functional and clinical features. Although the risk of sudden death and incapacitating symptoms in young patients has been focused upon, the disease has been found with increasing frequency in elderly patients. However, there have been few studies on clinical features of HCM in the elderly. We established a cardiomyopathy registration study in Kochi Prefecture, which is one of the most aged communities in Japan, to provide detailed descriptions of the clinical features of HCM in a community-based patient cohort. The unselected regional HCM population consisted largely of elderly patients (70% of the study cohort being >or=60 years of age at registration), although HCM has been regarded largely as a disease of the young. Cardiac hypertrophy that becomes clinically apparent late in life can be a genetic disorder, and mutations in the cardiac myosin-binding protein C gene are the most common cause of late-onset or elderly HCM. In the morphological features, sarcomere gene defects seem to have a predilection for a crescent-shaped left ventricular cavity with reversed septal curvature even in elderly patients, although an ovoid left ventricular shape was frequently seen in elderly patients in previous clinical studies on morphological characteristics of HCM. In middle-aged or elderly patients with HCM, heart failure and embolic events, which were strongly associated with atrial fibrillation, were very important. It is important to manage HCM patients from the standpoint of longitudinal evolution in order to prevent those clinical complications.
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PMID:Hypertrophic cardiomyopathy in the elderly. 2010 77

Hereditary haemorrhagic telangiectasia is a genetic condition which results in arteriovenous malformations involving the skin, mucous membranes, lung, brain, gastrointestinal tract, liver and spinal canal. The shunting of blood through arteriovenous malformations, especially in the liver,; leads to maldistribution of cardiac output. In order to supply blood to vital organs, cardiac output is increased through vasodilation, elevated stroke volume and elevated heart rate. Pregnancy can worsen the effects of the arteriovenous malformations. We present the peripartum management of a woman with hereditary haemorrhagic telangiectasia predominantly involving the liver that resulted in high output cardiac failure during two consecutive pregnancies.
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PMID:High output cardiac failure in a parturient with hereditary haemorrhagic telangiectasia. 2036 78

Gaucher's disease (GD) has variable presentations, but cardiac involvement is a generally uncommon clinical manifestation of the disease. In the past 25 years, the underlying genetic disorder in GD has been well characterized, with almost 300 mutations identified in the glucocerebrosidase gene (GBA). Nevertheless, clear genotype-phenotype correlations have been confirmed only for the most frequent mutations. We present a female patient, who was known to have aortic valve pathology from the age of 30. Despite medical follow up, at the age of 60 she presented with heart failure (NYHA III). At that time echocardiography showed severe fibrosed aortic valve stenosis. Valvuloplasty was planned, when thrombocytopenia, previously considered to be autoimmune, became severe. Anemia and leukopenia were also noted. Moderate splenomegaly and severe bone marrow infiltration were found on MRI. Bone marrow aspiration revealed typical Gaucher cells and the enzyme activity assay confirmed the diagnosis. DNA investigation showed that the patient is homozygous for the G377S mutation. To our knowledge, of all mutations identified so far, only homozygosity for the D409H mutation has been associated with cardiovascular valvular disease in patients with a rare type 3c GD. G377S, found in our patient, is a rare mutation, previously reported as a 'mild' mutation, because of the finding that homoallelic patients were essentialy asymptomatic or had mild disease. Our patient, also homozygous for G377S mutation, had a severe form of type 1 GD, with rare cardiac valve involvement, which is a previously unreported clinical presentation for this mutation. This case further proves that patients with the same genotypes can have different phenotypes, emphasizing the influence of other genetic and/or environmental factors.
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PMID:An unusual presentation of Gaucher's disease: aortic valve fibrosis in a patient homozygous for a rare G377S mutation. 2043 62

Hypertrophic cardiomyopathy (HCM) is a complex cardiovascular genetic disorder characterized by marked clinical and genetic heterogeneity. Major advances have been made in the clinical characterization of patients with HCM and in identifying causative gene mutations. However, many questions remain regarding the underlying disease mechanisms. Furthermore, in a disease where no pharmacological treatments currently exists which can either prevent or cause regression of disease, processes to identify novel therapies are the crucial next steps. Animal models of HCM have already proved to be universally useful in confirming gene causation and dissecting out key molecular pathways involved in the development of HCM and its sequelae, including heart failure and sudden death. These findings have led to studies in animal models investigating novel therapeutic approaches in HCM, specifically targeting the development and progression of cardiac hypertrophy, fibrosis, and heart failure. This review will provide a brief summary of some of the key animal models of HCM and how these models have been utilized to understand disease mechanisms and to investigate new potential therapies. Ongoing studies using animal models of HCM will lead to a greater understanding of disease pathogenesis and will facilitate the translation of these findings to improved clinical outcomes in HCM patients.
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PMID:Role of animal models in HCM research. 2056 5

A review of heart diseases in Africa shows that the cardiomyopathies continue to be important causes of morbidity and mortality in the population. Hypertension remains the commonest cause of myocardial disease, followed by the cardiomyopathies. Ischaemic heart disease continues to be rare. Of the cardiomyopathies, dilated cardiomyopathy (DCM) is still the commonest. A large proportion of patients diagnosed with DCM in Africa have been shown to be cases of hypertensive heart failure, with varying degrees of myocardial dysfunction. Hypertrophic cardiomyopathy, which in the past was thought to be rare among Africans, has been shown to have the same prevalence as in other parts of the world. Moreover it is now known to be a genetic disorder. Endomyocardial fibrosis has become rare in communities where it used to be common. Its aetiology continues to be elusive. Arrhythmogenic right ventricular cardiomyopathy has been reported among Africans but there are no reports of left ventricular non-compaction or the ion channelopathies from Africa. Lenegre disease and the long-QT syndromes are well-known entities in clinical practice in Africa although long-QT in Africa is associated with potassium deficiency arising from prolonged treatment with diuretics. Left ventricular non-ischaemic aneurysms still occur but are rare. In view of these, a new classification of myocardial disorders was proposed for Africa.
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PMID:Cardiomyopathies and myocardial disorders in Africa: present status and the way forward. 2424 Mar 79

Prader-Willi Syndrome (PWS) is a rare genetic disorder characterized by physical, psychological and physiological abnormalities. Obesity and related cardiovascular diseases are a common problem in adult patients with PWS. This report describes a case of adult PWS with heart failure associated with marked obesity and sleep-disordered breathing that was successfully treated with oxygen therapy, adaptive servoventilation, medications, diet therapy and rehabilitation.
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PMID:Successful treatment of heart failure in an adult patient with Prader-Willi syndrome. 2354 73

Left ventricular noncompaction (LVNC) is an uncommon genetic disorder of endocardial morphogenesis, which carries a high mortality from heart failure or sudden cardiac death. This condition is often first diagnosed in adults, but it has also been described in children with other cardiac anomalies. We discuss the management of a 10-year-old female with congenital aortic stenosis associated with LVNC.
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PMID:Surgery for congenital aortic stenosis in children with left ventricular noncompaction. 2376 4

Hypertrophic cardiomyopathy (HCM) is a relatively common genetic disorder (1:500) inherited as an autosomal dominant trait. It is caused by mutations in any one of 10 genes encoding protein components of cardiac sarcomere. Some theoretically calculated risks exist when patients with HCM become pregnant. The physiologic increase of cardiac output and increased stroke volume may be impaired due to the non-compliant ventricular walls. In the first trimester, the physiologic hypervolemia of pregnancy to some extent counteracts the natural decrease in peripheral vascular resistance which would have otherwise provoked an obstruction gradientin systolic flow. As pregnancy advances, the vena caval compression may decrease venous return causing cardiac compromise, whereas the stress of labour may precipitate arrhythmia. We report our experience of a pregnancy with co-existant non-obstructive hypertrophic cardiomyopathy and nodal bradycardia ultimately resulting in pre-term delivery, neonatal death and maternal death in puerperium from overt cardiac failure after a relatively uneventful gestation.
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PMID:Pregnancy outcome in a case of non-obstructive hypertrophic cardiomyopathy. 2398 59

Duchenne muscular dystrophy (DMD) is an incurable, X-linked progressive muscle degenerative disorder that results from the absence of dystrophin protein and leads to premature death in affected individuals due to respiratory and/or cardiac failure typically by age of 30. Very recently the exciting prospect of an effective oligonucleotide therapy has emerged which restores dystrophin protein expression to affected tissues in DMD patients with highly promising data from a series of clinical trials. This therapeutic approach is highly mutation specific and thus is personalised. Therefore DMD has emerged as a model genetic disorder for understanding and overcoming of the challenges of developing personalised genetic medicines. One of the greatest weaknesses of the current oligonucleotide approach is that it is a mutation-specific therapy. To address this limitation, we have recently demonstrated that exons 45-55 skipping therapy has the potential to treat clusters of mutations that cause DMD, which could significantly reduce the number of compounds that would need to be developed in order to successfully treat all DMD patients. Here we discuss and review the latest preclinical work in this area as well as a variety of accompanying issues, including efficacy and potential toxicity of antisense oligonucleotides, prior to human clinical trials.
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PMID:Development of multiexon skipping antisense oligonucleotide therapy for Duchenne muscular dystrophy. 2398 57

Isolated left ventricular non-compaction is a rare genetic disorder manifesting mainly with heart failure, ventricular arrhythmias and systemic embolism. Isolated ventricular tachycardia originating from the right ventricular outflow tract is an arrhythmia that can be treated medically and/or by radiofrequency catheter ablation. Here, we report a case of an asymptomatic 16-year-old boy with a new diagnosis of dilated cardiomyopathy, left ventricular noncompaction and right ventricular outflow tract tachycardia. Electrophysiological studies and radiofrequency ablation of the right ventricular outflow tract tachycardia resulted in normalisation of left ventricular systolic function. This is the first case reporting left ventricular non-compaction in association with tachycardia-induced cardiomyopathy secondary to repetitive monomorphic right ventricular outflow tract tachycardia.
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PMID:Tachycardia-induced cardiomyopathy due to repetitive monomorphic ventricular ectopy in association with isolated left ventricular non-compaction. 2462 14


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