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Cardiac Abnormalities (cardiac + abnormality)
Selected AbstractsA novel mutation in the GATA4 gene in patients with Tetralogy of Fallot,,HUMAN MUTATION, Issue 3 2006Georges Nemer Abstract In vertebrates, heart formation which integrates different structures and cell types is a complex process that involves a network of genes regulated by transcription factors. Proper spatiotemporal expression of these factors ensure the highly needed tight control of each step in organogenesis. A mistake at any step from cell-commitment to valve formation will have a major impact on heart morphogenesis and function leading to congenital heart disease (CHD). Cardiac abnormalities occur with an incidence of one per 100 live births and represent 25% of all congenital malformations. As an alternative approach to linkage-analysis of familial cases of CHD, we started screening familial and sporadic cases of CHDs in a highly consanguineous population for mutations in genes encoding cardiac-enriched transcription factors. The evolutionarily conserved role of these proteins in cardiac development suggested a role in CHD. In this study, we report a mutation in the gene encoding GATA4, one of the earliest markers of heart development. This mutation was found in two out of 26 patients with Tetralogy of Fallot (TOF), and in none of the 94 patients with different phenotypes included in the study, nor in 223 healthy individuals. The heterozygous mutation results in an amino acid substitution in the first zinc finger of GATA4 that reduced its transcriptional activation of downstream target genes, without affecting GATA4 ability to bind DNA, nor its interaction with ZFPM2. © 2006 Wiley-Liss, Inc. [source] Cardiac abnormalities in patients with refractory epilepsyACTA NEUROLOGICA SCANDINAVICA, Issue 2002Simona Tigaran First page of article [source] Impact of Body Mass Index on Markers of Left Ventricular Thickness and Mass Calculation: Results of a Pilot AnalysisECHOCARDIOGRAPHY, Issue 3 2005Ranjini Krishnan M.D. Specific correlations between body mass index (BMI) and left ventricular (LV) thickness have been conflicting. Accordingly, we investigated if a particular correlation exists between BMI and echocardiographic markers of ventricular function. Methods: A total of 122 patients, referred for routine transthoracic echocardiography, were included in this prospective pilot study using a 3:1 randomization approach. Patient demographics were obtained using a questionnaire. Results: Group I consisted of 80 obese (BMI was >30 kg/m2), Group II of 16 overweight (BMI between 26 and 29 kg/m2), and Group III of 26 normal BMI (BMI < 25 kg/m2) individuals. No difference was found in left ventricular wall thickness, LV end-systolic cavity dimension, fractional shortening (FS), or pulmonary artery systolic pressure (PASP) among the groups. However, mean LV end-diastolic cavity dimension was greater in Group I (5.0 ± 0.9 cm) than Group II (4.6 ± 0.8 cm) or Group III (4.4 ± 0.9 cm; P < 0.006). LV mass indexed to height2.7 was also significantly larger in Group I (61 ± 21) when compared to Group III (48 ± 19; P < 0.001). Finally, left atrial diameter (4.3 ± 0.7 cm) was also larger (3.8 ± 0.6 and 3.6 ± 0.7, respectively; P < 0.00001).Discussion: We found no correlation between BMI and LV wall thickness, FS, or PASP despite the high prevalence of diabetes and hypertension in obese individuals. However, obese individuals had an increased LV end-diastolic cavity dimension, LV mass/height2.7, and left atrial diameter. These findings could represent early markers in the sequence of cardiac events occurring with obesity. A larger prospective study is needed to further define the sequence of cardiac abnormalities occurring with increasing BMI. [source] Management of new onset atrial fibrillation in previously well patients less than 60 years of ageEMERGENCY MEDICINE AUSTRALASIA, Issue 1 2005David McD Taylor Abstract Objective:, This study reviewed the ED management of new onset atrial fibrillation (AF) in previously well patients aged less than 60 years. Methods:, We undertook a retrospective review of ED patients from 1998 to 2002 inclusive. The main outcome measures were approaches to rate or rhythm control and anticoagulation, the use of echocardiography, the value of diagnostic testing and the frequency of hospital admission. Results:, Fifty-two patients were identified. In general, all patients were haemodynamically stable. One patient had mild cardiac failure and one was clinically thyrotoxic. Serum potassium was measured in 51 (98%) patients, magnesium in 23 (44%) and cardiac enzymes in 30 (58%); results were generally unhelpful. Thyroid function tests were carried out in 40 (77%) patients; results were unremarkable except for the clinically thyrotoxic patient. No patient had echocardiography in the ED; however, 6 patients (12%) were later found to have major cardiac abnormalities. Forty-four (85%) patients received a variety of medications; 37 (71%) received an anti-arrhythmic and 24 (46%) an antithrombotic. Overall, 17 (33%) patients received theoretically effective therapy for conversion to sinus rhythm. Twenty-two (42%) patients were admitted to hospital. Conclusions:, This study reveals variation in the management of acute AF in previously well, haemodynamically stable, young patients. Pathology testing was frequently carried out with a low yield. There were high rates of attempts to cardiovert, use of antithrombotics and of admission to hospital. Although cardioversion attempts appeared to be contrary to existing guidelines, decisions may have been based primarily on patient symptoms. Echocardiography should be considered prior to anti-arrhythmic therapy. [source] Heart Rate Changes and ECG Abnormalities During Epileptic Seizures: Prevalence and Definition of an Objective Clinical SignEPILEPSIA, Issue 8 2002Maeike Zijlmans Summary: ,Purpose: To determine the prevalence of heart rate changes and ECG abnormalities during epileptic seizures and to determine the timing of heart rate changes compared to the first electrographic and clinical signs. To assess the risk factors for the occurrence of ECG abnormalities. Methods: We analyzed retrospectively 281 seizures in 81 patients with intractable epilepsy who had prolonged video-EEG and two-channel ECG. The nature and timing of heart rate changes compared to the electrographic and clinical seizure onset was determined. The ictal period (including one minute preictally and three minutes postictally) was analyzed for cardiac arrhythmias, conduction and repolarization abnormalities. Risk factors for cardiac abnormalities were investigated using parametric and non-parametric statistics. Results: There was an increase in heart rate of at least 10 beats/minute in 73% of seizures (93% of patients) and this occurred most often around seizure onset. In 23% of seizures (49% of patients) the rate increase preceded both the electrographic and the clinical onset. ECG abnormalities were found in 26% of seizures (44% of patients). One patient had an asystole for 30 seconds. Long seizure duration increased the occurrence of ECG abnormalities. No other risk factor was found. Conclusions: Heart rate changes occur frequently and occur around the time or even before the earliest electrographic or clinical change. The change can clarify the timing of seizure onset and the specific rate pattern may be useful for seizure diagnosis and for automatic seizure detection. ECG abnormalities occur often and repeatedly in several seizures of the same patient. [source] Myotonic dystrophy type 2EUROPEAN JOURNAL OF NEUROLOGY, Issue 5 2002J. Finsterer Myotonic dystrophy type 2 (DM2) is a clinically but not genetically heterogeneous, multisystem disorder, that is clinically similar to, but distinct from myotonic dystrophy type 1 (DM1). Initially, different phenotypes of DM2 were described by Ricker (proximal myotonic myopathy, PROMM), Ranum (myotonic dystrophy 2, DM2) and Udd (proximal myotonic dystrophy, PDM). Clinical features these three phenotypes had in common were diffuse, proximal or distal weakness, wasting, myotonia, cataract, cerebral, endocrine and cardiac abnormalities. Initially, the clinical differences between DM1 and PROMM seemed unmistakable, but meanwhile it has become apparent that the clinical differences between these entities are blurring. In 1999, Day et al., Meola et al. and Ricker et al. mapped the mutated gene of all three phenotypes to chromosome 3q. In 2001, the three different phenotypes were found to rely on the same mutation in the ZNF9 gene on chromosome 3q21.3. Although DM2 may be clinically heterogeneous, it is by result of a mutation in a single gene. The mutation responsible for DM2 is a CCTG-repeat expansion of 75,11 000 repeats in intron 1 of the ZNF9 gene on chromosome 3q21.3. Because of the clinical heterogeneity, the diagnosis of DM2 should rely on DNA analysis alone. [source] Cardiac outcomes of hydrops as a result of twin,twin transfusion syndrome treated with laser surgeryJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 1-2 2009Peter H Gray Aim: To determine cardiac outcomes of foetal hydrops as a result of twin,twin transfusion syndrome treated with laser surgery. Methods: Hydrops identified in 16 recipient foetuses with twin,twin transfusion syndrome was treated with laser ablation surgery to anastomotic vessels. Prior to laser surgery, the foetuses were assessed by echocardiography for cardiac abnormalities and ventricular and valvular dysfunction. After delivery, echocardiography was performed on 15 of the 16 newborn infants. Results: Foetal echocardiography indicated impaired biventricular function in the 16 hydropic foetuses. Five foetuses had little or no forward flow through the pulmonary valve, while four had pulmonary regurgitation. Following laser surgery performed at a mean of 22.9 weeks gestation, hydrops resolved in all cases. Delivery occurred at a mean of 33.6 weeks gestation. Post-natal echocardiography revealed cardiac abnormalities in five neonates, of whom three had right ventricular outflow tract obstruction. One preterm infant with severe pulmonary stenosis died with intractable cardiac failure. Conclusion: The majority of hydropic infants with twin,win transfusion syndrome have normal cardiac outcomes following intrauterine laser surgery. As up to one-third may have cardiac abnormalities, cardiological monitoring is recommended during the first year of life. [source] Structural and Functional Effects of Developmental Exposure to Ethanol on the Zebrafish HeartALCOHOLISM, Issue 6 2010Cynthia A. Dlugos Background:, Fetal alcohol exposure during development results in a host of cardiac abnormalities including atrial and ventricular septal defects, teratology of Fallot, d-transposition of the great arteries, truncus arteriosus communis, and aortico-pulmonary window. The mechanisms behind these ethanol-induced deficits are unknown. The purpose of this study was to determine whether the zebrafish, a simple model in which heart development and the sequence of gene expression is well elucidated and comparable to that in higher vertebrates, is sensitive to developmental exposure of pharmacologically relevant concentrations of ethanol. Methods:, Zebrafish eggs of the AB strain were raised in egg water or in 0.5% (v/v) ethanol solution for either 54 hpf (hours postfertilization) or 72 hpf. Heart pathology and volumes were evaluated on the latter group at 5 dpf (days postfertilization) on tissue sections from fixed larvae embedded in glycolmethacrylate. Heart rates were determined in embryos of 54 hpf and larvae of 5 dpf. The functional maturity of the heart's conducting system was measured by determining the response of ethanol-treated and control embryos and larvae to the adrenergic agonist, isoproterenol, and the cholinergic agonist, carbachol. Results:, Ethanol-induced alterations occurred in heart morphology and heart volume. A developmental lag in the isoproterenol response and the absence of carbachol-mediated bradycardia were also observed following ethanol treatment. Conclusions:, These results show that exposure of the zebrafish to ethanol during development results in structural and functional changes in the heart that mimic malformations that occur in patients with fetal alcohol syndrome (FAS). These findings promote the zebrafish heart as a future model for investigating the mechanisms responsible for ethanol's adverse effects on vertebrate heart development. [source] Testing Genetic Susceptibility Loci for Alcoholic Heart Muscle DiseaseALCOHOLISM, Issue 10 2001Olli A. Kajander Background: Although many heavy alcohol users have subclinical alcoholic heart muscle disease, only a very few develop severe dilated cardiomyopathy. Therefore, and because cardiac abnormalities correlate only weakly with the duration or quantity of drinking, individual susceptibility differences may exist. In this work we examined whether common gene variants previously associated with cardiac hypertrophy or altered alcohol metabolism could modify the effects of alcohol on the heart. Methods: We studied 700 middle-aged male victims of sudden death who underwent a medicolegal autopsy. In addition to routine postmortem examination, the weights and the cavity and wall dimensions of the left and right ventricle were measured. Coronary artery stenoses were determined from a silicone rubber cast of the arteries. Alcohol consumption and cardiovascular risk factors were assessed by a structured interview of the spouse. The following gene polymorphisms were determined by using polymerase chain reaction restriction fragment length polymorphism and solid-phase minisequencing techniques: angiotensin converting enzyme I/D, angiotensin II type 1 receptor 1166A/C, aldosterone synthase ,344C/T, alcohol dehydrogenases 2 and 3, acetaldehyde dehydrogenase 2, and cytochrome P-450 2E1 Dra I, Pst I, Rsa I, and Msp I. Results: The most consistent effects of alcohol (p < 0.05) were a higher total heart weight and a larger right ventricle size with increasing daily drinking. However, these and other effects of alcohol were statistically fully independent of the studied genotypes. Conclusions: The gene polymorphisms selected for and analyzed in our study are unlikely to modify the effects of alcohol on the heart. Other unknown factors determine the individual susceptibility to alcoholic heart muscle disease. [source] Joint generalized estimating equations for multivariate longitudinal binary outcomes with missing data: an application to acquired immune deficiency syndrome dataJOURNAL OF THE ROYAL STATISTICAL SOCIETY: SERIES A (STATISTICS IN SOCIETY), Issue 1 2009Stuart R. Lipsitz Summary., In a large, prospective longitudinal study designed to monitor cardiac abnormalities in children born to women who are infected with the human immunodeficiency virus, instead of a single outcome variable, there are multiple binary outcomes (e.g. abnormal heart rate, abnormal blood pressure and abnormal heart wall thickness) considered as joint measures of heart function over time. In the presence of missing responses at some time points, longitudinal marginal models for these multiple outcomes can be estimated by using generalized estimating equations (GEEs), and consistent estimates can be obtained under the assumption of a missingness completely at random mechanism. When the missing data mechanism is missingness at random, i.e. the probability of missing a particular outcome at a time point depends on observed values of that outcome and the remaining outcomes at other time points, we propose joint estimation of the marginal models by using a single modified GEE based on an EM-type algorithm. The method proposed is motivated by the longitudinal study of cardiac abnormalities in children who were born to women infected with the human immunodeficiency virus, and analyses of these data are presented to illustrate the application of the method. Further, in an asymptotic study of bias, we show that, under a missingness at random mechanism in which missingness depends on all observed outcome variables, our joint estimation via the modified GEE produces almost unbiased estimates, provided that the correlation model has been correctly specified, whereas estimates from standard GEEs can lead to substantial bias. [source] 4D retrospective black blood trueFISP imaging of mouse heartMAGNETIC RESONANCE IN MEDICINE, Issue 5 2009Sylvain Miraux Abstract The purpose of this study was to demonstrate the feasibility of steady-state True fast imaging with steady precession (TrueFISP) four-dimensional imaging of mouse heart at high resolution and its efficiency for cardiac volumetry. Three-dimensional cine-imaging of control and hypoxic mice was carried out at 4.7 T without magnetization preparation or ECG-triggering. The k -space lines were acquired with the TrueFISP sequence (pulse repetition time/echo time = 4/2 ms) in a repeated sequential manner. Retrospective reordering of raw data allowed the reconstruction of 10 three-dimensional images per cardiac cycle. The acquisition scheme used an alternating radiofrequency phase and sum-of-square reconstruction method. Black-blood three-dimensional images at around 200 ,m resolution were produced without banding artifact throughout the cardiac cycle. High contrast to noise made it possible to estimate cavity volumes during diastole and systole. Right and left ventricular stroke volume was significantly higher in hypoxic mice vs controls (20.2 ± 2 vs 15.1 ± 2; P < 0.05, 24.9 ± 2 vs 20.4 ± 2; P < 0.05, respectively). In conclusion, four-dimensional black-blood TrueFISP imaging in living mice is a method of choice to investigate cardiac abnormalities in mouse models. Magn Reson Med, 2009. © 2009 Wiley-Liss, Inc. [source] Fabry Disease: An Atypical PresentationPEDIATRIC DERMATOLOGY, Issue 4 2005Sourab Choudhury D.O. Patients typically have angiokeratomas distributed between the umbilicus and knees, painful crises of the hands and feet, and renal, ophthalmologic, and cardiac abnormalities. An 11-year-old boy presented with a 6-year history of widespread petechial-like lesions and painful crises of the hands and feet. On physical examination, he had numerous erythematous, nonblanching pinpoint macules and rare papules with an overlying crust. These lesions were widely distributed on his trunk, palms, and soles, while sparing the area between the umbilicus and knees. Histologic evaluation of one of these lesions found several dilated, blood-filled vessels in the upper dermis beneath a thinned epidermis. The patient also had markedly decreased , galactosidase A levels. Although the distribution of the angiokeratomas was atypical, the clinical and histologic findings were consistent with a diagnosis of Fabry disease. [source] Metabolic syndrome: signs and symptoms running togetherPEDIATRIC TRANSPLANTATION, Issue 1 2010Tammy M. Brady Brady TM, Parekh RS. Metabolic syndrome: signs and symptoms running together. Pediatr Transplantation 2010: 14: 6,9. © 2010 John Wiley & Sons A/S. Abstract:, Children with kidney disease are at increased risk of having several comorbidities such as obesity, dyslipidemia, hypertension, and impaired glucose tolerance, and patients with a constellation of these symptoms are considered to have the MS. Children with kidney disease, and ESRD in particular, are at increased CV risk, as are patients with the MS. To determine the impact MS has on a particularly vulnerable population of children, those who have received a kidney transplant, Wilson et al. explored the prevalence of MS and the association of MS with cardiac abnormalities among this subset of children. They found an overall high prevalence of MS among pediatric transplant recipients and that the risk of left ventricular hypertrophy was higher among children with MS after renal transplant compared to those without MS. Review of the most common definitions of MS and also the clinical implications are discussed. While there is no doubt that children with kidney disease have a high prevalence of CV risk factors and that these children are at risk for CV events early in life, whether the sum of the parts of MS confers increased risk over what is seen with individual risk factors that often run together remains to be seen. [source] Normal and abnormal fetal cardiac anatomyPRENATAL DIAGNOSIS, Issue 13 2004Andrew C. Cook Abstract The heart is often perceived as a difficult organ to understand by ultrasound during fetal life. This is undoubtedly reflected in the low detection rate of cardiac abnormalities as compared to those of most other organ systems in the fetus. In this article we start by updating classical concepts of cardiac embryology, many of which were previously difficult to understand since they were overly simplistic or purely observational. We then lead on to the structure and growth of the fully formed fetal heart where we review the anatomy and ultrasound appearances in detail and provide comparisons with major abnormalities. We emphasise the fact that a solid understanding of cardiac anatomy can enable those involved in fetal medicine to make full use of the views of the heart that are obtained by ultrasound and which are often only transient. Copyright © 2004 John Wiley & Sons, Ltd. [source] Cardiac and respiratory failure in limb-girdle muscular dystrophy 2IANNALS OF NEUROLOGY, Issue 5 2004Maja Poppe MD Mutations in the gene encoding fukutin-related protein cause limb-girdle muscular dystrophy 2I. In this multicenter retrospective analysis of 38 patients, 55.3% had cardiac abnormalities, of which 24% had developed cardiac failure. Heterozygotes for the common C826A mutation developed cardiac involvement earlier than homozygotes. All patients initially improved while receiving standard therapy. Independent of cardiac status, forced vital capacity was below 75% in 44.4% of the patients. There was no absolute correlation between skeletal muscle weakness and cardiomyopathy or respiratory insufficiency. These complications are a primary part of this specific type of limb-girdle muscular dystrophy, with important implications for management. Ann Neurol 2004;56:738,741 [source] Perinatal outcome in fetuses with extremely large nuchal translucency measurementAUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 3 2009Fergus SCOTT Background: Studies have suggested that an entirely normal outcome is likely when the nuchal translucency (NT) measurement is very large and the karyotype, morphology and echocardiography scans are normal. Recently this has been questioned as it is based on very small numbers. Aim: Assess the outcome of pregnancies with an NT measurement of 6.5 mm or greater. Methods: Audit of a large first trimester screening program. Results: Over the ten years to 2006, 76 813 patients underwent first trimester screening, with 120 having an extremely large NT. Thirty-one cases had normal karyotypes, of which there were four sets of twins that demised. Six cases miscarried and ten were terminated, some with morphological abnormalities. Eight cases were still alive for the morphology scan, with the only abnormality being mild pyelectasis in one case. At birth, three cases were normal and another three cases had a good outcome. Two cases had coarctation of the aorta and a good outcome. One case had Noonan's syndrome, another had cerebral palsy and the case with pyelectasis had hydronephrosis, dilated ureters and some contractures. Conclusions: When the karyotype and morphology scan are normal, the outcome is often good in spite of an extremely large NT. However, even a subtle ultrasound anomaly can indicate a genetic syndrome and echocardiography cannot exclude mild cardiac abnormalities. [source] Auscultation and echocardiographic findings in Bull Terriers with and without polycystic kidney diseaseAUSTRALIAN VETERINARY JOURNAL, Issue 5 2005CA O'LEARY Objective To investigate a possible association between Bull Terrier polycystic kidney disease (BTPKD) and cardiac disease, to determine the prevalence of mitral valve disease (MVD) and left ventricular outflow tract obstruction (LVOTO) in the Australian Bull Terrier population, and to compare auscultation and echocardiography in detection of cardiac disease in Bull Terriers. Design Ninety-nine Bull Terriers, ranging in age from 8 weeks to 13 years and 11 months were auscultated and examined using renal ultrasonography; 86 were also examined using echocardiography. The prevalence and severity of heart defects in dogs with BTPKD was compared with that in dogs without BTPKD. Results Nineteen of these 99 dogs were diagnosed with BTPKD. Forty-two percent of Bull Terriers with BTPKD and 28% of those without BTPKD had murmurs characteristic of mitral regurgitation or LVOTO. How recently an animal was descended from an ancestor with BTPKD was associated with presence (P = 0.008) and loudness of a murmur (P = 0.009). Overall, echocardiography detected MVD in 39% of Bull Terriers, with increased prevalence in older animals (P = 0.003). Mitral stenosis was found in eight cases. Fifty-three percent of dogs in this study had evidence of LVOTO, with obstruction consisting of a complex of lesions including dynamic or fixed subvalvular LVOTO, significantly narrowed left ventricular outflow tract or valvular aortic stenosis. Dogs with BTPKD, or those descended from dogs with BTPKD, were more likely to have MVD (P = 0.006), and while LVOTO was not more common in these dogs, if they did have LVOTO, they were more likely to have severe obstruction than dogs with no ancestors with BTPKD (analysed in three ways P = 0.028 to 0.001). In this study, 46% of Bull Terriers without a murmur or arrhythmia had cardiac disease detected on echocardiographic examination. Conclusion Cardiac disease, especially MVD and LVOTO, was common in Bull Terriers in this study, and those with BTPKD had an increased risk of cardiac abnormalities. Auscultation did not detect a significant number of Bull Terriers with cardiac disease. [source] Growth hormone, acromegaly, and heart failure: an intricate triangulationCLINICAL ENDOCRINOLOGY, Issue 6 2003Luigi Saccà Summary Short-term GH or IGF-I excess provides a model of physiological cardiac growth associated with functional advantage. The physiological nature of cardiac growth is accounted for by the following: (i) the increment in cardiomyocyte size occurs prevalently at expense of the short axis. This is the basis for the concentric pattern of left ventricular (LV) hypertrophy, with consequent fall in LV wall stress and functional improvement; (ii) cardiomyocyte growth is associated with improved contractility and relaxation, and a favourable energetic setting; (iii) the capillary density of the myocardial tissue is not affected; (iv) there is a balanced growth of cardiomyocytes and nonmyocyte elements, which accounts for the lack of interstitial fibrosis; (v) myocardial energetics and mechanics are not perturbed; and (vi) the growth response is not associated with the gene re-programming that characterizes pathologic cardiac hypertrophy and heart failure. Overall, the mechanisms activated by GH or IGF-I appear to be entirely different from those of chronic heart failure. Not to be neglected is also the fact that GH, through its nitric oxide (NO)-releasing action, contributes to the maintenance of normal vascular reactivity and peripheral vascular resistance. This particular kind of interaction of GH with the cardiovascular system accounts for: (i) the lack of cardiac impairment in short-term acromegaly; (ii) the beneficial effects of GH and IGF-I in various models of heart failure; (iii) the protective effect of GH and IGF-I against post-infarction ventricular remodelling; (iv) the reversal of endothelial dysfunction in patients with heart failure treated with GH; and (v) the cardiac abnormalities associated with GH deficiency and their correction after GH therapy. If it is clear that GH and IGF-I exert favourable effects on the heart in the short term, it is equally undeniable that GH excess with time causes pathologic cardiac hypertrophy and, if it is not corrected, eventually leads to cardiac failure. Why then, at one point in time in the natural history of acromegaly, does physiological cardiac growth become maladaptive and translate into heart failure? Before this transition takes places, the acromegalic heart shares very few features with other models of chronic heart failure. None of the mechanisms involved in the progression of heart failure is clearly operative in acromegaly, save for the presence of insulin-resistance and mild alterations of lipoproteins and clot factors. Is this enough to account for the development of heart failure? Probably not. On the other hand, it must be stressed that GH and IGF-I activate several mechanisms that play a protective role against the development of heart failure. These include ventricular unloading, deactivation of neurohormonal components, antiapoptotic effect and enhanced vascular reactivity. Ultimately, all data available concur to hypothesize that acromegalic cardiomyopathy represents a progressive model of cardiac hypertrophy in which the cardiotoxic and pro-remodelling effect is intrinsic to the excessive and unrestrained myocardial growth. [source] Aplasia cutis congenita, congenital heart lesions, and frontonasal cysts in four successive generationsCLINICAL GENETICS, Issue 6 2007RG Rodrigues We report a family with four known generations of individuals in the maternal family tree with aplasia cutis congenita (ACC) of the scalp, congenital heart lesions, brachydactyly, and frontonasal cysts. This is the first reported finding of craniofacial, digital, and cardiac abnormalities associated with ACC, likely representing a new variant of the autosomal dominant hidrotic ectodermal dysplasia subtype. These rare disorders are characterized by common anomalies of at least two elements of the ectoderm and its appendages, namely the skin, teeth, hair, nails, and sweat glands. These patients also frequently have chronic dental problems with early loss of teeth, and recurrent lung, ear, and nose infections secondary to a defect in mucous membrane function. The clinical findings in these patients are delineated and compared to patients with other forms of ectodermal dysplasia in the literature. [source] Cushing's syndrome in pregnancy and neonatal hypertrophic obstructive cardiomyopathyACTA PAEDIATRICA, Issue 10 2004L Fayol Cushing's syndrome is rare in pregnancy but can cause spontaneous abortion, stillbirth or premature birth. We report a case of transient hypertrophic obstructive cardiomyopathy in a newborn whose mother had hypercortisolism due to a primary adrenal lesion. There was no family history of hypertrophic obstructive cardiomyopathy. Follow-up revealed complete resolution of the cardiac abnormalities in the infant. Cushing's syndrome in the mother resolved after delivery. Although maternal hypercortisolism seldom results in symptomatic hypercortisolism in the newborn, hypertrophic obstructive cardiomyopathy can occur. [source] Double Chambered Right Ventricle in 9 CatsJOURNAL OF VETERINARY INTERNAL MEDICINE, Issue 1 2007H. Koffas Background: Double-chambered right ventricle (DCRV) is a frequently recognized cardiac congenital abnormality in humans. It has been described in dogs and in 1 cat. However systemic description of clinical and echocardiographic features of the disease in cats is currently lacking from the veterinary literature. Animals: Nine cats with DCRV are described. Results: The cats ranged from 4 months to 10 years of age. Eight cats at presentation were asymptomatic and 1 cat had chylothorax. In all cases echocardiography revealed abnormal fibromuscular bundles obstructing the mid-right ventricle, dividing the chamber into 2 compartments. The proximal right ventricular compartment was markedly hypertrophied, and right atrial dilation was usually present. The mean pressure gradient measured across the stenotic area was 130 ± 50 mm Hg. Concurrent abnormalities included a ventricular septal defect (n = 2); aortic malalignment, aortic insufficiency (n = 1); and congenital peritoneal-pericardial diaphragmatic hernia (n = 1). Two cats had systolic anterior motion of the mitral valve, one of which had concurrent left ventricular hypertrophy. Five cats have remained asymptomatic for a median period of 3.6 years (range, 3.3,5 years) and 3 cats have developed clinical signs associated with congestive heart failure (at 2, 3.3, and 9 years). One cat showed progressive lethargy and exercise intolerance and underwent partial ventriculectomy at the age of 2 years. This cat died during the operation with electromechanical dissociation. Conclusions: DCRV is a congenital cardiac abnormality that may be more common than previously recognized. [source] | |||||||||||||||||||||||||