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

Tetralogy of Fallot, the most common cyanotic heart defect, has not been closely associated with a specific chromosome defect. The San Luis Valley Recombinant Chromosome 8 [SLV Rec(8)] syndrome is strongly associated with congenital heart disease, particularly tetralogy of Fallot. This article reviews SLV Rec(8) syndrome and other chromosome 8 aberrations to suggest locations for cardiogenic genes. SLV Rec(8) [rec(8),dup q,inv(8)(p23q22)] syndrome has been found in Hispanic families in the southwestern United States. Congenital heart disease is found in 93.3% of SLV Rec(8) individuals (n = 45), with tetralogy of Fallot constituting 40.5% of all lesions and conotruncal defects, 55.6%. These frequencies exceed the incidence of tetralogy of Fallot (10%) and conotruncal defects (20%) among all children with heart defects (P less than 0.003 for both). Review of patients with deletion 8p (n = 13) showed heart defects in 84.6% with 27.3% being conotruncal defects. Among duplication 8q patients (n = 20), 45% had heart defects with conotruncal defects constituting 44%. Neither group differed significantly from expected in its incidence of conotruncal defects. Among patients with mosaic trisomy 8 (n = 47), 12 had heart abnormalities including one conotruncal defect. Among 3 patients with other rec(8) chromosomes, one had a ventricular septal defect. The cause of heart defects in SLV Rec(8) cannot be assigned to either the deletion of 8p or the duplication of 8q. The lack of an association between other chromosome 8 abnormalities and tetralogy of Fallot suggests that genes at the SLV Rec(8) breakpoints or an interaction between genes on both arms of chromosome 8 are important.
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PMID:San Luis Valley recombinant chromosome 8 and tetralogy of Fallot: a review of chromosome 8 anomalies and congenital heart disease. 174 13

Mulberry heart disease persists among young pigs in Denmark although abundant supplies of selenium and vitamin E are added to feedstuffs for sows and pigs. The concentrations of selenium and vitamin E in the liver and heart tissues of young pigs which had died suddenly, and had the characteristic lesions of mulberry heart disease post mortem, were not significantly different from the concentrations found in pigs of the same age which had died suddenly for other reasons. The concentrations of selenium and vitamin E in the livers (0.3 mg/kg and 4 mg/kg, respectively) appeared to be satisfactory in all the pigs examined.
Vet Rec 1989 May 20
PMID:Mulberry heart disease in young pigs without vitamin E and selenium deficiency. 275 46

Eight children from seven presumably unrelated families were identified independently as having an unbalanced recombinant chromosome resulting in the presence of extra material on the short arm of a chromosome 8. Parental chromosomes were analyzed, and one member of each couple (four fathers and three mothers) was found to carry a pericentric inversion of a chromosome 8 [inv(8)(p23q22)]. The propositi had an unbalanced recombinant chromosome [rec(8),dup q,inv(8)(p23q22)]. The affected infants all had developmental delay, congenital heart disease, and unusual appearance. A common origin of the pericentric inversion was suggested because of geographic location and Mexican--American ancestry of the seven families.
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PMID:Familial pericentric inversion of chromosome 8. 617 Nov 64

The results of a questionnaire provided data about owners' perceptions of the cause of death of over 3000 British dogs. The mean age at death (all breeds, all causes) was 11 years one month, but in dogs dying of natural causes it was 12 years eight months. Only 8 per cent of dogs lived beyond 15, and 64 per cent of dogs died of disease or were euthanased as a result of disease. Nearly 16 per cent of deaths were attributed to cancer, twice as many as to heart disease. Neutered females lived longer than males or intact females, but among dogs dying of natural causes entire females lived slightly longer. In neutered males the importance of cancer as a cause of death was similar to heart disease. Mongrels lived longer than average but several breeds lived longer than mongrels, for example, Jack Russells, miniature poodles and whippets. There was no correlation between longevity and cardiovascular parameters (heart rate, systolic, diastolic, pulse and mean arterial pressure, or the combination of heart rate and pulse pressure) but smaller dogs had longer lifespans. The results also include breed differences in lifespan, susceptibility to cancer, road accidents and behavioural problems as a cause of euthanasia.
Vet Rec 1999 Nov 27
PMID:Longevity of British breeds of dog and its relationships with sex, size, cardiovascular variables and disease. 1113 80

We report a case of a child with features of Down syndrome (DS) but with an atypical karyotype. Initial chromosome analysis was 46,XX,dup(21q).ish 21(wcp21+). The father's chromosomes were normal. However, the mother was found to have mosaicism for a pericentric inversion of chromosome 21 (19/30 cells). The revised chromosome result of the child was 46,XX,rec(21)dup(21q)inv(21)(p12q21.1)mat. A literature review of similar cases (hereafter referred to as rec dup(21q)) was conducted to aid counselling about recurrence risks and the prognosis for this child. All previous reports of rec dup(21q) were secondary to a maternal pericentric inversion. Male carriers did not seem to be at risk of having offspring with the rec dup(21q), although the number of male carriers was limited. In those with rec dup(21q), the risk of congenital heart disease was similar to that of trisomy 21. In reported cases, the facial appearance was suggestive of Down syndrome but perhaps less striking. Although the data are limited, there is an indication the developmental disabilities and short stature are milder in those with rec dup(21q) compared to trisomy 21. These observations promote the concept that the region of chromosome 21 proximal to the duplication contains genetic information contributing to the expression of some features of Down syndrome.
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PMID:Recombinant Down syndrome: a case report and literature review. 1126 Feb 15

The specialized conduction tissue network mediates coordinated propagation of electrical activity through the adult vertebrate heart. Following activation of the atria, the activation wave is slowed down in the atrioventricular canal or node, then spreads rapidly into the left and right ventricles via the His-Purkinje system (HPS). This results in the ventricle being activated from the apex toward the base and is thought to represent HPS function. The development of mature HPS function in embryogenesis follows significant phases of cardiac morphogenesis. Initially, cardiac impulse propagates in a slow, linear, and isotropic fashion from the sinus venosus at the most caudal portion of the tubular heart. Although the speed of impulse propagation gradually increases, ventricular activation in the looped heart still follows the direction of blood flow. Eventually, the immature base-to-apex sequence of ventricular activation undergoes an apparent reversal, maturing to apex-to-base pattern. The embryonic chick heart has been studied intensively by both electrophysiological and morphological techniques, and the morphology of its conduction system (which is similar to mammals) is well characterized. One interesting but seldom studied feature is the anterior septal branch (ASB), which came sharply to focus (together with the rest of the ventricular conduction system) in our birthdating studies. Using an optical mapping approach, we show that ASB serves to activate ventricular surface between stages 16 and 25, predating the functionality of the His bundle/bundle branches. Heart morphogenesis and conduction system formation are thus linked, and studying the abnormal activation patterns could further our understanding of pathogenesis of congenital heart disease.
Anat Rec A Discov Mol Cell Evol Biol 2004 Oct
PMID:Developmental transitions in electrical activation patterns in chick embryonic heart. 1536 41

Mutations of Nkx2-5 cause congenital heart disease and atrioventricular block in man. The altered expression of an electrophysiologic protein regulated by Nkx2-5 was originally presumed to cause the conduction defect, but when no such protein was found, an alternative hypothesis was considered. In pediatric patients, the association of certain cardiac malformations with congenital atrioventricular block suggests that errors in specific developmental pathways could cause both an anatomic and a physiologic defect. We therefore hypothesized that Nkx2-5 insufficiency perturbs the conduction system during development, which in turn manifests as a postnatal conduction defect. Experimental results from Nkx2-5 knockout mouse models support the developmental hypothesis. Hypoplasia of the atrioventricular node, His bundle, and Purkinje system can explain in whole or in part specific conduction and electrophysiologic defects present in Nkx2-5 haploinsufficiency.
Anat Rec A Discov Mol Cell Evol Biol 2004 Oct
PMID:Function follows form: cardiac conduction system defects in Nkx2-5 mutation. 1536 43

The development of the complex network of specialized cells that form the atrioventricular conduction system (AVCS) during cardiac morphogenesis occurs by progressive recruitment within a multipotent cardiomyogenic lineage. Understanding the molecular control of this developmental process has been the focus of recent research. Transcription factors representative of multiple subfamilies have been identified and include members of zinc-finger subfamilies (GATA4, GATA6 HF-1b), skeletal muscle transcription factors (MyoD), T-box genes (Tbx5), and also homeodomain transcription factors (Msx2 and Nkx2.5). Mutations in some of these transcription factors cause congenital heart disease and are associated with cardiac abnormalities, including deficits within the AVCS. Mouse models that closely phenocopy known human heart disease provide powerful tools for the study of molecular effectors of AVCS development. Indeed, investigations of the Nkx2.5 haploinsufficient mouse have shown that peripheral Purkinje fibers are significantly underrepresented. This piece of data corroborates our previous work showing in chick, mouse, and humans that Nkx2.5 is elevated in the differentiating AVCS relative to adjacent working ventricular myocardial tissues. Using the chick embryo as a model, we show that this elevation of Nkx2.5 is transient in the network of conduction cells comprising the peripheral Purkinje fiber system. Functional studies using defective adenoviral constructs, which disrupt the normal variation in level of this gene, result in perturbations of Purkinje fiber phenotype. Thus, the precise spatiotemporal regulation of Nkx2.5 levels during development may be required for the progressive emergence of gene expression patterns specific to differentiated Purkinje fiber cells.
Anat Rec A Discov Mol Cell Evol Biol 2004 Oct
PMID:Transcriptional regulation of cardiac conduction system development: 2004 FASEB cardiac conduction system minimeeting, Washington, DC. 1536 44

Atrioventricular (AV) conduction disease (block) describes impairment of the electrical continuity between the atria and ventricles. Classification of AV block has utilized biophysical characteristics, usually the extent (first, second, or third degree) and site of block (above or below His bundle recording site). The genetic significance of this classification is unknown. In young patients, AV block may result from injury or be the major cardiac manifestation of neuromuscular disease. However, in some cases, AV block has unknown or idiopathic cause. In such cases, familial clustering has been noted and published pedigrees show autosomal dominant inheritance; associated heart disease is common (e.g., congenital heart malformation, cardiomyopathy). The latter finding is not surprising given the common origin of working myocytes and specialized conduction system elements. Using genetic models incorporating reduced penetrance (disease absence in some individuals with disease gene), variable expressivity (individuals with disease gene have different phenotypes), and genetic heterogeneity (similar phenotypes, different genetic cause), molecular genetic causes of AV block are being identified. Mutations identified in genes with diverse functions (transcription, excitability, and energy homeostasis) for the first time provide the means to assess risk and offer insight into the molecular basis of this important clinical condition previously defined only by biophysical characteristics.
Anat Rec A Discov Mol Cell Evol Biol 2004 Oct
PMID:Genetics of atrioventricular conduction disease in humans. 1537 90

In dogs with spontaneous heart disease, an electronically generated measurement of cardiac vagal tone, the cardiac index of parasympathetic activity, was a sensitive, simple and inexpensive measure of the severity of heart failure. Dogs with cardiac disease and an index score less than 3 were at 15.8 (95 per cent confidence interval 2.9 to 87.2) times the risk of dying within a year than those with a score of 3 and over. The measurement of the index provided an objective and reliable beat-by-beat measurement of cardiac vagal tone, which was prognostically useful in dogs with heart disease.
Vet Rec 2005 Jan 22
PMID:Non-invasive real-time measurements of cardiac vagal tone in dogs with cardiac disease. 1570 49


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