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

The prolonged QT syndromes are characterized by prolongation of the QT interval corrected for heart rate (QTc) on the surface electrocardiogram associated with T-wave abnormalities, relative bradycardia, and ventricular tachyarrhythmias, including polymorphic ventricular tachycardia and torsades de pointes. These patients tend to present with episodes of syncope, seizures, or sudden death typically triggered by exercise, emotion, noise, or, in some cases, sleep. These disorders of cardiac repolarization are commonly inherited, with the autosomal dominant form, Romano-Ward syndrome, most common. A rare autosomal recessive form associated with sensorineural deafness, Jervell and Lange-Nielsen syndrome, in which the cardiac disorder is autosomal dominant and deafness is a recessive trait, also occurs. The underlying genetic causes of these forms of prolonged QT interval syndromes are heterogeneous, with at least seven genes responsible for the clinical syndromes. All of the five genes identified to date encode ion channel proteins, suggesting this to be an ion channelopathy. In this review, the genetic basis of the prolonged QT interval syndromes will be discussed, genotype-phenotype correlations identified, and the approaches to genetic testing and treatments will be outlined.
 ...
PMID:Molecular biology and the prolonged QT syndromes. 1128 54

Pulmonary valvular stenosis (PS) with intact ventricular septum is a common congenital heart disease. In general, mild PS has a benign clinical course. However, in severe PS and some cases of moderate stenosis, increasing severity of the lesion may occur. The manifestations of either cerebrovascular accident (CVA) or congestive heart failure (CHF) are rarely reported in pediatric patients with PS. In this report, we describe a girl with severe PS complicated by seizures and sudden onset of hemiparesis at 13 months of age who developed CHF when 16 months old. CHF was cured after successful balloon valvuloplasty. She remained well without residual hemiparesis or recurrent seizures during the 1-year follow-up. Early balloon valvuloplasty should be emphasized in patients with severe PS, even if there are no significant clinical symptoms. With prompt balloon valvuloplasty, these complications can be effectively prevented.
 ...
PMID:Pulmonary valvular stenosis complicated by cerebrovascular accident and congestive heart failure in a young child. 1160 Nov 94

Disorders of mitochondrial DNA (mtDNA) may commonly present to primary care physicians but go undiagnosed. A 36-year-old man with a 15-year history of psychosis, seizures, and sensorineural hearing loss and a family history of diabetes mellitus and heart disease presented to our hospital without a unifying diagnosis. Physiologic, biochemical, and genetic testing revealed deficient aerobic metabolism, a defect in mitochondrial electron transport, and the presence of an A-to-G point mutation at position 3243 of the mitochondrial leucine-transfer RNA gene, establishing the diagnosis of mitochondrial encephalopathy, lactic acidosis, and strokelike syndrome (MELAS). Diagnosing mtDNA disorders requires a careful integration of clinical signs and symptoms with pedigree analysis and multidisciplinary testing. Diagnosis is important to provide genetic counseling, avoid unnecessary evaluation, and facilitate therapy for symptomatic relief.
 ...
PMID:mtDNA disease in the primary care setting. 1170 Jan 63

Perinatal stroke has become increasingly recognized, but the incidence is probably underestimated because of variation in the presentation, evaluation, and diagnosis. Based on estimates from population-based studies of infants with seizures, perinatal stroke occurs in approximately 1 in 4000 term births. Most perinatal strokes involve the middle cerebral artery and are caused by thromboembolism from an intracranial or extracranial vessel, the heart, or the placenta. Cardiac disorders, coagulation abnormalities, and infection are risk factors for stroke in the perinatal period. This article discusses the epidemiology of ischemic stroke occurring in the perinatal and neonatal period, including cerebrovascular events that are diagnosed during the perinatal period and those diagnosed retrospectively, when evidence of hemiparesis or postneonatal seizures leads to later evaluation and neuroimaging.
 ...
PMID:Epidemiology of perinatal stroke. 1175 97

Although there are a variety of neurologic disease processes that the emergency physician should be aware of the most common of these include seizures, closed head injury, headache, and syncope. When one is evaluating a patient who has had a seizure, differentiating between febrile seizures, afebrile seizures, and SE helps to determine the extent of the work-up. Febrile seizures are typically benign, although a diagnosis of meningitis must not be missed. Educating parents regarding the likelihood of future seizures, and precautions to be taken should a subsequent seizure be witnessed, is important. The etiology of a first-time afebrile seizure varies with the patient's age at presentation, and this age-specific differential drives the diagnostic work-up. A follow-up EEG is often indicated, and imaging studies can appropriate on a nonurgent basis. Appropriate management of SE requires a paradigm of escalating pharmacologic therapy, and early consideration of transport for pediatric intensive care services if the seizure cannot be controlled with conventional three-tiered therapy. Closed head injury frequently is seen in the pediatric emergency care setting. The absence of specific clinical criteria to guide the need for imaging makes management of these children more difficult. A thorough history and physical examination is important to uncover risk factors that prompt emergent imaging. Headaches are best approached by assessing the temporal course, associated symptoms, and the presence of persistent neurologic signs. Most patients ultimately are diagnosed with either a tension or migraine headache; however, in those patients with a chronic progressive headache course, an intracranial process must be addressed and pursued with appropriate imaging. Syncope has multiple causes but can generally be categorized as autonomic, cardiac, or noncardiac. Although vasovagal syncope is the most common cause of syncope, vigilance is required to identify those patients with a potentially fatal arrhythmia or with heart disease that predisposes to hypoperfusion. As such, all patients who present with syncope should have an ECG. Additional work-up studies are guided by the results of individual history and physical examination.
 ...
PMID:Common emergent pediatric neurologic problems. 1182 32

2-deoxy-2-[18F] fluoro-D-glucose (18FDG) was developed in 1976 in a collaboration between scientists at the National Institutes of Health, the University of Pennsylvania, and Brookhaven National Laboratory. It was developed for the specific purpose of mapping brain glucose metabolism in living humans, thereby serving as a tool in the basic human neurosciences. With 18FDG it was possible for the first time to measure regional glucose metabolism in the living human brain. Around the same time, the use of 18FDG for studies of myocardial metabolism and as a tracer for tumor metabolism were reported. After the first synthesis of 18FDG via an electrophilic fluorination with 18F gas (produced via the 20Ne(d,alpha)18F reaction), small volume enriched water targets were developed that made it possible to produce large quantities of [18F]fluoride ion via the high-yield 18(p,n)18F reaction. This was followed by a major milestone, the development of a nucleophilic fluorination method that produced 18FDG in very high yield. These advances and the remarkable properties of 18FDG have largely overcome the limitations of the 110-minute half-life of 18F so that 18FDG is now available to most regions of the United States from a number of central production sites. This avoids the need for an on-site cyclotron and chemistry laboratory and has opened up the use of 18FDG to institutions that have a positron emission tomography (PET) scanner (or other imaging device) but no cyclotron or chemistry infrastructure. Currently, 18FDG is used by many hospitals as an off the shelf radiopharmaceutical for clinical diagnosis in heart disease, seizure disorders, and oncology, the area of most rapid growth. However, it remains an important tool in human neuroscience and in drug research and development.
 ...
PMID:Initial and subsequent approach for the synthesis of 18FDG. 1183 70

A patient who presented with a new apparent seizure was found to have abnormal electrocardiographic findings, with classic features of the Brugada syndrome. He had spontaneous episodes of nonsustained ventricular tachycardia, easily inducible ventricular fibrillation at electrophysiological study in the absence of structural heart disease, and a negative neurological evaluation. These findings suggested that sustained ventricular arrhythmias known to be associated with the Brugada syndrome and resultant cerebral hypoperfusion, rather than a primary seizure disorder, were responsible for the event. Patients with the Brugada syndrome often present with sudden death or with syncope resulting from ventricular arrhythmias. In consideration of its variability in presentation sometimes mimicking other disorders, primary care physicians and internists should be aware of its often transient electrocardiographic features.
 ...
PMID:Brugada syndrome: an unusual cause of convulsive syncope. 1207 42

Catecholamine-induced polymorphic ventricular tachycardia (CPVT), a rare disease that occurs in subjects without obvious organic heart disease, is characterized by episodes of syncope, seizures, or sudden death in response to physiologic or emotional stress. This report reviews evidence that a missense mutation in the CASQ2 gene is associated with autosomal-recessive CPVT.
 ...
PMID:A missense mutation in the CASQ2 gene is associated with autosomal-recessive catecholamine-induced polymorphic ventricular tachycardia. 1273 48

MWS is a multiple congenital anomaly syndrome, first clinically delineated by Mowat et al in 1998. Over 45 cases have now been reported. All patients have typical dysmorphic features in association with severe intellectual disability, and nearly all have microcephaly and seizures. Congenital anomalies, including Hirschsprung disease (HSCR), congenital heart disease, hypospadias, genitourinary anomalies, agenesis of the corpus callosum, and short stature are common. The syndrome is the result of heterozygous deletions or truncating mutations of the ZFHX1B (SIP1) gene on chromosome 2q22.
 ...
PMID:Mowat-Wilson syndrome. 1274 90

Multiple mutations in several ion channel genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, and KCNJ2) have been shown to cause autosomal dominant long QT syndrome (LQTS), a familial cardiac disorder that causes syncope, seizures, and sudden death. Due to their multiple loci and considerable size, mutation detection in these genes represents a challenge that is only partially met by the conventional screening method of single-stranded conformational polymorphism (SSCP). The recently introduced denaturing high-performance liquid chromatography (dHPLC) offers a promising new method for a fast and sensitive analysis of PCR-amplified DNA fragments. To test the applicability of dHPLC in the molecular diagnosis of LQTS, we first assessed a cohort of 192 patients from our International LQTS Registry for 14 previously identified mutations (including 10 different missense mutations, 1-bp, 2-bp, 3-bp, and 9-bp deletion mutations), and 2 polymorphisms in the LQTS potassium and sodium channel genes. Applying empirically determined exon-specific melting profiles, all mutations (including four previously undetectable by SSCP) were readily identified by dHPLC. We conclude that the dHPLC technology is a highly sensitive and efficient method for the molecular analysis of LQTS, and the same PCR amplicons developed for SSCP testing can be directly used for dHPLC assay.
 ...
PMID:Denaturing high-performance liquid chromatography quickly and reliably detects cardiac ion channel mutations in long QT syndrome. 1464 2


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>