Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hypertrophic cardiomyopathy (HCM) is a cardiac disorder affecting 1 in 500 persons. The cardinal feature is (inappropriate) left ventricular hypertrophy in the absence of another identifiable cause. Sudden cardiac death (SCD) is the most devastating and feared complication and may be the presenting manifestation. The striking heterogeneity and unpredictability of HCM make risk stratification problematic and imprecise. Cases must be deferred to the FAA for third- or limited second-class special issuance consideration. In general, first-class and full second-class medical certification is not permitted.
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PMID:Hypertrophic cardiomyopathy. 1830 14

Hypertrophic cardiomyopathy (HC) is an inherited heart disease characterized by left ventricular (LV) remodeling. The present study was conducted to investigate the association of N-terminal pro-B-type natriuretic peptide (NT-pro-BNP) levels with LV remodeling on magnetic resonance imaging and procollagen formation in 17 healthy controls and 24 patients with nonobstructive HC attributable to an identical Asp175Asn (aspartic acid to asparagine at codon 175) mutation in the alpha-tropomyosin gene. None of the patients had history of decompensated heart failure, and all patients had normal LV ejection fraction. Patients with HC had higher NT-pro-BNP levels compared with controls (median 60 pmol/L, range <40 to 359, vs <40 pmol/L; p <0.001), but 9 patients with HC had normal NT-pro-BNP levels (<40 pmol/L). In patients with HC, levels of NT-pro-BNP were correlated significantly with LV end-systolic volume index (r = 0.50, p <0.05), LV mass index (r = 0.47, p <0.05), proportion of hypokinetic segments (r = 0.50, p <0.05), and levels of serum aminoterminal propeptide of type III procollagen (r = 0.52, p <0.01). When patients with HC were divided into 3 groups on the basis of their NT-pro-BNP levels, there were statistically significant linear associations of LV end-systolic volume (test for linearity p = 0.034), LV mass index (p = 0.009), proportion of hypokinetic segments (p = 0.016), and levels of serum aminoterminal propeptide of type III procollagen (p = 0.020) with NT-pro-BNP levels over the 3 groups, suggesting a tight relation between LV remodeling and levels of NT-pro-BNP. In conclusion, in patients with nonobstructive HC attributable to an Asp175Asn mutation in the alpha-tropomyosin gene, elevated NT-pro-BNP levels are associated with incipient LV remodeling, suggesting that NT-pro-BNP could be used to diagnose insidious unfavorable LV remodeling in HC.
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PMID:Significance of plasma levels of N-terminal Pro-B-type natriuretic peptide on left ventricular remodeling in non-obstructive hypertrophic cardiomyopathy attributable to the Asp175Asn mutation in the alpha-tropomyosin gene. 1839 56

Hypertrophic cardiomyopathy (HCM) is a heterogeneous autosomal dominant cardiac disorder with a prevalence of 1 in 500. Over 450 different pathogenic mutations in at least 16 genes have been identified so far. The large allelic and genetic heterogeneity of HCM requires high-throughput, rapid, and affordable mutation detection technologies to efficiently integrate molecular screening into clinical practice. We developed a custom DNA resequencing array that contains both strands of all coding exons (160), splice-site junctions, and 5'UTR regions of 12 genes that have been clearly implicated in HCM (MYH7, MYBPC3, TNNT2, TPM1, TNNI3, MYL3, MYL2, CSRP3, PLN, ACTC, TNNC1, and PRKAG2). We analyzed a first series of 38 unrelated patients with HCM (17 familial, 21 sporadic). A total of 953,306 bp across the 38 patients were sequenced with a mean nucleotide call rate of 96.92% (range: 93-99.9%). Pathogenic mutations (single nucleotide substitutions) in MYH7, MYBPC3, TNNI3, and MYL3 (six known and six novel) were identified in 60% (10/17) of familial HCM and 10% of sporadic cases (2/21). The high-throughput HCM resequencing array is the most rapid and cost-effective tool for molecular testing of HCM to date; it thus has considerable potential in diagnostic and predictive testing, and prognostic stratification.
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PMID:A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy. 1840 88

Hypertrophic cardiomyopathy (HCM) is classified as a primary cardiomyopathy. HCM is a clinically heterogeneous but relatively common autosomal dominant genetic heart disease that probably is the most frequently occurring cardiomyopathy. HCM is characterized morphologically and defined by a hypertrophied, nondilated left ventriculum (LV) in the absence of another systemic or cardiac disease that is capable of producing the magnitude of wall thickening evident (e.g., systemic hypertension, aortic valve stenosis). Most HCM patients have the propensity to develop dynamic obstruction to LV outflow under resting or physiologically provocable conditions, produced by systolic anterior motion of the mitral valve with ventricular septal contact. The phenotypic features of HCM may develop at any age from infancy to adulthood, and are characterized by a great heterogeneity in the extent, magnitude, and distribution of left ventricular hypertrophy. Hypertrophic obstructive cardiomyopathy (HOCM) often leads to heart failure, severe ischemia, severe symptoms and death. Determination of the exact site of the hypertrophy and of the obstruction of the left ventricular outflow tract, in asymmetric septal hypertrophy, establishes which is the best treatment strategy. In the treatment of HOCM, drug therapy with negatively inotropic drugs, percutaneous transluminal septal myocardial ablation by alcohol-induced septal branch occlusion, surgical myectomy and DDD pacemaker therapy are considered the therapeutical options. We present a case of an obstructive hypertrophic cardiomyopathy in an 84-year-old Italian woman with a left ventricular outflow tract (LVOT) peak gradient with the Valsalva maneuver of 188 mm Hg and with a history of first episode of syncope.
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PMID:Revelation of an obstructive hypertrophic cardiomyopathy in an elderly patient. 1918 3

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 a common hereditary heart disease associated with sudden cardiac death. Predictive genetic counseling and testing are performed using adapted Huntington guidelines, that is, psychosocial care and time for reflection are not obligatory and the test result can be disclosed by telephone or mail. Proven mutation carriers detected by predictive DNA testing are advised to undergo regular cardiac follow-up according to international guidelines. We evaluated the opinion of 143 predictively tested HCM mutation carriers on received cardiogenetic care using questionnaires (response rate 86%). Predictive genetic counseling and DNA testing were evaluated on four domains: information provision, satisfaction with counseling, social pressure in DNA testing and regret of DNA testing. Opinions on cardiac follow-up were assessed pertaining to communication, nervous anticipation, reassurance, and general disadvantages. Genetic counseling was valued positively and only four carriers would rather not have known that they were a mutation carrier. A majority received their DNA test result by mail or telephone, and almost all were satisfied. Only 76% of carriers received regular cardiac follow-up. Those who did, had a positive attitude regarding the cardiac visits. General disadvantages of the visits were valued as low, especially by older carriers, men and carriers with manifest HCM. We conclude that our adapted Huntington guidelines are well accepted and that cardiogenetic care is generally appreciated by predictively tested HCM mutation carriers. To better understand the cause of the substantial portion of mutation carriers not receiving regular cardiac follow-up, although recommended in international guidelines, further research is needed.
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PMID:Genetic counseling and cardiac care in predictively tested hypertrophic cardiomyopathy mutation carriers: the patients' perspective. 1953 83

Hypertrophic cardiomyopathy (HCM) is a common hereditary heart disease associated with increased mortality. Disclosure of DNA test results may have social implications such as low access to insurance. In The Netherlands, insurance companies are restricted in the use of genetic information of their clients by the Medical Examination Act. A cross-sectional survey was used to assess the frequency and type of problems encountered by HCM mutation carriers applying for insurance, and associations with carriers' characteristics. The response rate was 86% (228/264). A total of 66 carriers (29%) applied for insurance of whom 39 reported problems (59%) during an average follow-up of 3 years since the DNA test result. More problems were encountered by carriers with manifest disease (P<0.001) and carriers with symptoms of HCM (P=0.049). Carriers identified after predictive DNA testing less frequently experienced problems (P=0.002). Three carriers without manifest HCM reported problems (5% of applicants). Frequently reported problems were higher premium (72%), grant access to medical records (62%), and complete rejection (33%). In conclusion, HCM mutation carriers frequently encounter problems when applying for insurances, often in the case of manifest disease, but the risk assessment of insurance companies is largely justified. Still, 5% of carriers encounter potentially unjustified problems, indicating the necessity to monitor the application of the existing laws and regulations by insurance companies and to educate counselees on the implications of these laws and regulations.
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PMID:Obtaining insurance after DNA diagnostics: a survey among hypertrophic cardiomyopathy mutation carriers. 1967 85

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) 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 heart disease with a clinical prevalence of 1 in 500. HCM is a monogenetic disease and is inherited autosomal dominantly. The disease can manifest itself at any age. Clinical presentation varies from symptom-free to severe dyspnoea and sudden cardiac death from ventricular arrhythmia. Diagnosis is mainly based on echocardiography and on MRI if necessary. In 50-60% of patients, molecular genetic investigation reveals a pathogenic mutation in one of the sarcomeric protein genes. The treatment of HCM depends on the symptoms and the potential presence of an obstruction in the left ventricular outflow tract. The risk of sudden cardiac death must be evaluated in order to determine if a prophylactic intracardiac defibrillator is necessary. In view of its mendelian form of inheritance, in the Netherlands practice guidelines have been issued recently regarding genetic counselling of the patient and his or her family and to initiate and coordinate research within the family.
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PMID:[Hypertrophic cardiomyopathy: DNA diagnosis, genetic counselling and the risk of sudden cardiac death]. 2013 78


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