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 common hereditary heart disease associated with heart failure and sudden death. Quality of life and psychological distress were found to be impaired in HCM patients but have never been assessed in mutation carriers, with or without manifest HCM. We aimed to assess quality of life and psychological distress, using standardized questionnaires, and to identify sociodemographic, clinical, risk and illness perception related predictors thereof in 228 HCM mutation carriers. HCM carriers' overall quality of life and distress scores did not differ from the Dutch population. Quality of life and distress were worst in carriers with manifest HCM before DNA testing and best in predictively tested carriers without HCM. The latter group had even significantly better quality of life than the general population. Substantial determinants of impaired physical quality of life were symptoms (beta = 5.2, P = 0.001) and stronger belief in serious consequences of carriership (beta = 3.5, P < 0.001); determinants of impaired mental quality of life were physical comorbidity (beta = 3.0, P = 0.020) and a higher perceived risk of symptoms (beta = 0.9, P = 0.001). Female gender (beta = 1.4, P = 0.004) and stronger emotional reactions (beta = 1.2, P = 0.002) were associated with more anxiety. Less understanding of carriership (beta = 0.9, P = 0.007) and stronger belief in serious consequences (beta = 0.8, P = 0.008) increased depression. Levels of quality of life and distress were not impaired compared to the Dutch population. Illness and risk perception related variables were major determinants of quality of life and distress. Because these variables can be addressed and adjusted during pre- and post-test counseling, genetic counseling should focus on these determinants.
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PMID:Quality of life and psychological distress in hypertrophic cardiomyopathy mutation carriers: a cross-sectional cohort study. 1925 87

Hypertrophic cardiomyopathy (HCM) is the most frequent genetic cardiovascular disorder worldwide. It is the leading cause of sudden cardiac-related death in young people and a major cause of cardiac failure and death in elderly people. However, HCM frequently goes undiagnosed until the appearance of overt signs and symptoms, thereby delaying prophylactic and therapeutic measures. We screened patients for sarcomeric genes associated with HCM to obtain information that could be useful for an early diagnosis and so limit the severe consequences of silent HCM. We recruited 39 families with HCM from southern Italy and found mutations in 41% of families (12 with familial HCM and 4 with sporadic HCM). The remaining 23 families (59%) were negative for myofilament gene mutations. Of the 12 mutations identified, 8 were novel. Screening of the other family members available revealed that 27 had mutations; 11 of these individuals had no signs or symptoms suggestive of HCM. This study, besides characterizing the spectrum of mutations in another childhood population, and revealing an even greater genetic heterogeneity than formerly recognized, may increase genotype-phenotype correlations, and thus may help to identify asymptomatic candidates for early preventive or therapeutic measures.
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PMID:A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy. 1965 63

Hypertrophic cardiomyopathy (HCM) is the most common cardiovascular genetic disorder, and can result in heart failure and sudden death in the young. No mutation is identified in up to 50% of cases of HCM following comprehensive analysis of known causal genes, however standard methods overlook large deletions and duplications. The multiple ligation-dependent probe amplification method was used to screen for large deletions and duplications in the myosin-binding protein-C (MYBPC3) and cardiac troponin T (TNNT2) genes in patients with HCM. One novel 3 base pair deletion was identified in MYBPC3 in a severely affected patient; however this change was also found in an unaffected relative. No alterations in the TNNT2 gene were identified. In conclusion, large deletions and duplications do not appear to play a major role in the pathogenesis of HCM.
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PMID:The role of large gene deletions and duplications in MYBPC3 and TNNT2 in patients with hypertrophic cardiomyopathy. 1966 96

Hypertrophic cardiomyopathy (HCM) is a genetic disorder caused by mutations in genes encoding sarcomere proteins. The mechanisms involved in the development of cardiac hypertrophy and heart failure remain poorly understood. Global proteomic profiling was used to study the cardiac proteome of mice predisposed to developing HCM. Hearts from three groups of mice (n=3 hearts per group) were studied: non-transgenic (NTG) and cardiac-specific transgenic models over-expressing either the normal (TnI(WT)) or a mutant cardiac troponin I gene (Gly203Ser; TnI(G203S)). Two-dimensional gel electrophoresis (2-DE) coupled with tandem mass spectrometry was used to identify proteins. Image analysis was performed using Progenesis SameSpots. A total of 34 proteins with at least a twofold change in the TnI(G203S) mouse model were identified. Alterations were detected in components involved in energy production, Ca(2+) handling, and cardiomyocyte structure. Expression level changes in cytoskeletal and contractile proteins were well represented in the study, including the intermediate filament protein desmin, which was further investigated in two additional physiological and pathological settings, i.e., exercise treatment, and severe heart failure in a novel double-mutant TnI-203/MHC-403 model of HCM. This study highlights the potential role of tissue proteomic profiling for mapping proteins, which may be critical in cardiac dysfunction and progression to heart failure in HCM.
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PMID:Differential protein expression profiling of myocardial tissue in a mouse model of hypertrophic cardiomyopathy. 1971

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease, the leading cause of sudden cardiac death in young patients, and an important cause of heart failure symptoms in patients of all ages. This article reviews the role of a number of traditional and advanced imaging techniques that can now be considered in the contemporary evaluation of patients with HCM, with important implications for management strategies.
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PMID:Imaging techniques in the evaluation and management of hypertrophic cardiomyopathy. 1972 54

Hypertrophic cardiomyopathy (HCM) is an intriguing disease with various clinical manifestations, ranging from sudden cardiac death to heart failure. The molecular genetics of HCM are all but elucidated and over 200 mutations in more than a dozen genes have been identified. Conventional therapeutic agents, namely beta-blockers and calcium channel blockers, could provide symptomatic relief but are not known to reduce mortality or induce regression of phenotype. Studies in genetic animal models suggest cardiac hypertrophy and fibrosis, a major histological feature of HCM, may be reversed or prevented through blockade of molecules involved in the pathogenesis of HCM. Surgical myomectomy and ethanol-induced septal ablation are effective procedures for reducing the left ventricular outflow tract obstruction and hence, symptomatic improvement. Randomized studies are needed to compare the effectiveness of medical therapy, ethanol septal ablation and surgical myomectomy in treatment of patients with HCM.
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PMID:Recent advances in genetics and treatment of hypertrophic cardiomyopathy. 1980 17

Prompt initiation of appropriate and intensive treatment in children with decompensated heart failure is crucial to avoid irreversible end-organ dysfunction. Initial management of these children includes transfer to the pediatric cardiac intensive care unit, basic hemodynamic monitoring, and establishment of intravenous access. Inotropic support should be instituted peripherally before obtaining central venous and arterial access. The team should be prepared for emergent intubation and initiation of mechanical circulatory support. Two experienced physicians should work together to obtain vascular access and manage sedation, airway control, and cardiovascular support. Acute heart failure syndrome in children may be related to cardiomyopathy, myocarditis, congenital heart disease, and acute rejection post heart transplantation. Each of these causes requires a different approach. Fulminant myocarditis may lead to severe morbidity and requires intensive support, although its outcome is considered to be good. Acute heart failure related to newly diagnosed dilated cardiomyopathy may represent end-stage heart failure; therefore, long-term mechanical circulatory support and heart transplantation may be considered to avoid other end-organ dysfunction. Hypertrophic cardiomyopathy may lead to acute decompensation due to 1) left ventricular outflow obstruction, 2) restrictive physiology leading to pulmonary hypertension, or 3) myocardial ischemia associated with coronary artery bridging. Decompensated heart failure associated with congenital heart disease usually represents end-stage heart failure and requires thorough evaluation for heart transplantation. Children with single-ventricle physiology who develop decompensated heart failure after a Fontan procedure are not candidates for mechanical circulatory support and therefore may not survive to heart transplantation. Acute heart failure due to posttransplantation acute rejection requires aggressive antirejection treatment, which places these patients at significant risk for overwhelming opportunistic infections. In our opinion, mechanical circulatory support should be initiated early in children who present with end-stage heart failure associated with hemodynamic instability to avoid end-organ damage.
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PMID:Pharmaceutical management of decompensated heart failure syndrome in children: current state of the art and a new approach. 1984 39

Hypertrophic cardiomyopathy (HCM) was diagnosed during postmortem examination of 2 captive adult Bennett's wallabies (Macropus rufogriseus rufogriseus). The wallabies were members of a mob (herd) of 3 wallabies, and 2 died spontaneously without clinical signs of heart failure being detected. Gross lesions in both cases included marked concentric hypertrophy of the left ventricle, pulmonary edema, and multifocal hemorrhage and subcutaneous edema of the hind limbs. Histologic lesions of the heart were limited to mild cardiac myofiber disarray and marked cardiac myofiber hypertrophy. A specific etiology for the HCM was not determined in either animal. The cardiac changes are similar to the left ventricular hypertrophy previously described in kangaroos.
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PMID:Hypertrophic cardiomyopathy in two captive Bennett's wallabies (Macropus rufogriseus rufogriseus). 1990 Dec 97

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

Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiomyopathy and the leading cause of sudden death in young people and a major cause of heart failure symptoms at any age. Due to its genetic etiology, there is substantial heterogeneity in the phenotypic expression and clinical course of patients with HCM. Traditionally, two-dimensional echocardiography has been the easiest and reliable technique for establishing a diagnosis of HCM. However, cardiovascular magnetic resonance (CMR) has emerged as a novel, 3-dimensional tomographic imaging technique, which provides high spatial and temporal resolution images of the heart (not limited by thoracic or pulmonary parenchyma), in any plane and without ionizing radiation. As a result, CMR is particularly well suited to provide detailed characterization of the HCM phenotype, including a precise assessment of the location and distribution of LV wall thickening (as well as other myocardial structures such as the right ventricle and papillary muscles). In this regard, CMR has been demonstrated to provide a diagnosis of HCM in cases where the echocardiogram was non-diagnostic. Furthermore, CMR provides an accurate assessment of total LV mass which is a more robust marker of hypertrophy, with potential implications for risk stratification. In addition, with the intravenous administration of gadolinium, first-pass perfusion sequences can identify myocardial perfusion abnormalities, while late gadolinium enhancement sequences can identify areas of myocardial fibrosis/scarring. Although the clinical implications of late gadolinium enhancement in HCM are still uncertain this information may, in the near-future, have important implications with regard to identifying HCM patients at high risk of sudden death and progressive heart failure, including evolution into the end-stage phase of HCM. Therefore, at present, CMR provides important information impacting on diagnosis and clinical management strategies in patients with HCM and will likely have an expanding role in the evaluation of patients with this complex disease.
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PMID:[The current and emerging role of cardiovascular magnetic resonance imaging in hypertrophic cardiomyopathy]. 2019 72


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