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Ramasamy Chandramohan C Department of Cardiology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, 605006, - - 2014
Seckel syndrome is an uncommon form of microcephalic dwarfism. The authors report a young boy with Seckel syndrome who presented with severe sinus bradycardia with symptoms of syncope and presyncope. Implantation of a permanent pacemaker was necessary in view of the severe symptoms. Although uncommon, cardiac abnormalities have been rarely ...
Rump Patrick P University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The - - 2014
22q11.2 deletion syndrome is one of the most common microdeletion syndromes. Most patients have a deletion resulting from a recombination of low copy repeat blocks LCR22-A and LCR22-D. Loss of the TBX1 gene is considered the most important cause of the phenotype. A limited number of patients with smaller, overlapping ...
Redfors Bjorn B aWallenberg laboratory at Sahlgrenska Academy, Gothenburg University bDepartment of Cardiology, Sahlgrenska University Hospital, Gothenburg, Sweden *Drs Yangzhen Shao and Bjorn Redfors contributed equally to the writing of this - - 2014
Takotsubo syndrome, also known as stress-induced cardiomyopathy, is an important differential diagnosis in patients presenting with chest pain and is associated with significant morbidity and mortality. Beyond adrenergic overstimulation the pathophysiology behind Takotsubo is poorly known and the syndrome cannot be differentiated from acute myocardial infarction (AMI) by non-invasive tests. ...
Bijarnia-Mahay Sunita S Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi; and *Department of Pediatric Gastroenterology, Hepatology and Liver Transplantation, Medanta - The Medicity, Gurgaon. Correspondence to: Dr Sunita Bijarnia-Mahay, Senior Consultant, Center of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110 060, India. - - 2014
Mitochondrial DNA depletion syndromes are disorders of Mitochondrial DNA maintenance causing varied manifestations, including fulminant liver failure. Two infants, presenting with severe fatal hepatopathy. Raised serum lactate, positive family history (in first case), and absence of other causes of acute liver failure. Case 1 with homozygous mutation, c.3286C>T (p.Arg1096Cys) in ...
Van Nostrand Jeanine L JL Department of Radiation Oncology, Division of Radiation and Cancer Biology, Stanford University School of Medicine, Stanford, California 94305, - - 2014
CHARGE syndrome is a multiple anomaly disorder in which patients present with a variety of phenotypes, including ocular coloboma, heart defects, choanal atresia, retarded growth and development, genitourinary hypoplasia and ear abnormalities. Despite 70-90% of CHARGE syndrome cases resulting from mutations in the gene CHD7, which encodes an ATP-dependent chromatin ...
Fu Qiang Q Cardiovascular Division, Zhujiang Hospital, Southern Medical University, Guangzhou, Guangdong 510280, - - 2014
To review the current knowledge about the pathophysiological mechanisms, preclinical models, novel contributors and potential therapies of cardiorenal syndrome. The literature concerning cardiorenal syndrome in this review was collected from PubMed published in English up to January 2014. Original articles and critical reviews related to cardiorenal syndrome were selected and ...
Waldow Hans Christian HC Werlhof-Institute Hannover, Schillerstraße 23, Hannover D-30159, Germany. Electronic address: - - 2014
Postoperative bleeding is common in patients with congenital heart disease (CHD). However, little is known about the role and prevalence of acquired von Willebrand syndrome (AVWS). We evaluated the prevalence of AVWS in relation to underlying cardiac defects, operative procedures and the presence of Eisenmenger syndrome. The prothrombin time, aPTT, ...
Gupta Punkaj P Sections of Pediatric Cardiology and Critical Care Medicine, Division of Pediatric Cardiology, Department of Pediatrics, Arkansas Children's Hospital, College of Medicine, University of Arkansas for Medical Sciences, 1 Children's Way, Slot 512-3, Little Rock, AR, USA, - - 2014
The data on the outcomes of children with heart disease and Down syndrome receiving extracorporeal membrane oxygenation (ECMO) for cardiac or respiratory failure are limited. This study aimed to evaluate morbidity and mortality associated with ECMO in children with Down syndrome and heart disease. Children younger than 18 years undergoing heart ...
Xu Zhao-Xia ZX School of Basic Medicine, Shanghai University of Traditional Chinese Medicine, Shanghai, 201203, - - 2014
To analyze the diagnostic consistency of Chinese medicine (CM) specialists in patients with cardiovascular disease and to study syndrome classification and identification based on the multi-label learning method. Using self-developed CM clinical scales to collect cases, inquiry information, complexity, tongue manifestation and pulse manifestation were assessed. The number of cases ...
Sharma Kavita K Department of Medicine, The Johns Hopkins University School of Medicine. Electronic address: - - 2014
The antisynthetase (AS) syndrome is characterized by autoimmune myopathy, interstitial lung disease, cutaneous involvement, arthritis, fever, and antibody specificity. We describe two patients with AS syndrome who also developed myocarditis, depressed biventricular function, and congestive heart failure. Both patients were diagnosed with AS syndrome based on clinical manifestations, detection of ...
Su Jennifer A JA 1Division of Cardiology,Children's Hospital Los Angeles,California,United States of - - 2014
In the spectrum of mitral valve anomalies, unguarded mitral orifice is an exceedingly rare malformation, with only four cases described in the current literature. All previously reported cases have been associated with discordant atrioventricular connections. We describe the first known case of unguarded mitral valve orifice, in the setting of ...
Inoue Shin-Ichi SI Department of Medical Genetics, Tohoku University School of Medicine, Sendai, - - 2014
Cardio-facio-cutaneous (CFC) syndrome is one of the 'RASopathies', a group of phenotypically overlapping syndromes caused by germline mutations that encode components of the RAS-MAPK pathway. Germline mutations in BRAF cause CFC syndrome, which is characterized by heart defects, distinctive facial features and ectodermal abnormalities. To define the pathogenesis and to ...
Takasugi Nobuhiro N Gifu University Hospital, Gifu, - - 2014
We report a case with type 3 congenital long QT syndrome, who exhibited a sudden paradoxical QT-interval prolongation during a progressive increase in heart rate, which exacerbated T-wave alternans.
Qiu Qi - - 2014
Chinese medicine syndromes in many disease models are not clearly characterized or validated, and the concepts of Chinese medicine syndromes are confounding and controversial. Metabonomics has been applied to the evaluation and classification of the Chinese medicine syndromes in clinical and nonclinical studies. In this study, we aim to investigate ...
Zweigerdt Robert R Leibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), Department for Cardiothoracic, Transplantation and Vascular Surgery, Hannover Medical School, 30625 Hannover, Germany; REBIRTH Cluster of - - 2014
Disease-specific induced pluripotent stem cells (iPSCs) are invaluable tools for studying genetic disorders in a dish. A recent paper by Wang et al. (2014) powerfully combines analysis of human iPSCs with genome editing and tissue engineering, in conjunction with biochemical and physiological assays, to provide insights into Barth-syndrome-associated cardiomyopathy.
Bottio Tomaso T Department of Cardiology and Cardiovascular Surgery, University of Padua Medical School, Padua - - - 2014
Carvajal syndrome is a variant of Naxos disease characterized by a predominant left ventricular involvement, wooly or curly hair, and palmoplantar keratoderma or similar skin disorders. We describe the clinical and therapeutic course of a 14-year old boy affected by this syndrome, in whom a progressive biventricular failure developed at ...
Shah Sanjiv J SJ Heart Failure with Preserved Ejection Fraction Program, Division of Cardiology, Department of Medicine, Feinberg Cardiovascular Research Institute, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. Electronic address: - - 2014
Heart failure with preserved ejection fraction (HFpEF) is a heterogeneous syndrome, with several underlying etiologic and pathophysiologic factors. The heterogeneity of the HFpEF syndrome may explain why (1) diagnosing and treating HFpEF is so challenging and (2) clinical trials in HFpEF have failed thus far. Here we describe 4 ways ...
Cohen L L Duke University School of Medicine, P.O. Box 100800, Durham, NC 27705, USA. - - 2014
The development of simultaneous decompensation in cardiac and renal function is a common phenomenon in patients with congestive heart failure. Termed the cardiorenal syndrome (CRS), this joint deterioration in cardiac output and renal filtration is the result of a complex interplay of hemodynamic and neurohormonal factors. Recently, endothelial dysfunction, inflammation ...
Wang Qun Q 1 The Nethersole School of Nursing, The Chinese University of Hong Kong , Hong Kong SAR, China - - 2014
Abstract Background: Different institutions have proposed various definitions for metabolic syndrome, which is a combination of risk factors for cardiovascular diseases (CVD). This study aimed to compare the feasibilities and abilities of different metabolic syndrome definitions in predicting acute coronary syndrome (ACS) in Chinese adults. Methods: A case-control study was ...
Wright Peter T PT National Heart and Lung Institute, Imperial College - - 2014
Takotsubo syndrome (TTS), also known as takotsubo cardiomyopathy, is an acute heart failure syndrome that typically occurs after a period of great emotional stress. The archetypal patient is a postmenopausal woman who presents with chest pain, ST-segment elevation and acute hypokinesia of the apical and middle segment of the left ...
Mahimaiha Jayaranganath J Department of cardiology, Sri Jayadeva Institute of Cardiovascular Sciences & Research, Bangalore, Karnataka, - - 2014
Coarctoplasty with stenting is often an effective strategy in cases of recoarctation following surgical repair. The potential benefit of coarctoplasty in a patient with Eisenmenger's syndrome is unknown. We describe the case of a 21-year-old male who presented with claudication of lower limbs. He was known to have congenital heart ...
Pothen L - - 2014
We report on a 75-year-old woman who presented with recurrent episodes of hypotension, anasarca, renal failure, hypoalbuminaemia without proteinuria, suggestive of systemic capillary leak syndrome (SCLS). Further investigations led to a diagnosis of diffuse large B-cell lymphoma. Secondary SCLS associated with non-Hodgkin lymphoma is reviewed.
Tadic Marijana M aUniversity Clinical Hospital Center 'Dr Dragisa Misovic-Dedinje' bClinic of Cardiac Surgery cClinic of Cardiology, Clinical Center of Serbia dFaculty of Medicine, University of Belgrade, Belgrade, - - 2014
The aim of this study was to examine the influence of the metabolic syndrome on the left ventricular geometry as well as on the early and mid-time outcome in patients with aortic stenosis who underwent aortic valve replacement. The study included 182 patients who underwent aortic valve replacement due to ...
DeZern Amy E AE The Sidney Kimmel Comprehensive Cancer Center and Division of Hematology, Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; Leukemia Program, Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, USA - - 2014
Over the past decade, our understanding of bone marrow failure has advanced considerably. Marrow failure encompasses multiple overlapping diseases, and there is increasing availability of diagnostic tools to distinguish among the subtypes. Identification of genetic alterations that underlie marrow failure has also greatly expanded, especially for myelodysplastic syndromes. Molecular markers ...
Wilson David B DB Department of Pediatrics, Washington University School of Medicine , St. Louis, MO , - - 2014
The inherited bone marrow failure syndromes are a diverse group of genetic diseases associated with inadequate production of one or more blood cell lineages. Examples include Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, thrombocytopenia absent radii syndrome, severe congenital neutropenia, and Shwachman-Diamond syndrome. The management of these disorders was once the ...
Laribi Said S Emergency Department, APHP, Groupe Hospitalier Saint Louis-Lariboisière, 75010, Paris, France, - - 2014
Heart failure (HF) is a major healthcare concern. Acute HF carries a high mortality and a high rehospitalisation rate. HF has a variety of detrimental effects on other organs. In recent years, the interactions between heart failure and the kidney have been the subject of significant investigations; this interaction, defined ...
Balanceanu Lavinia Alice LA Internal Medicine Department, "Sf. Ioan" Clinical Emergency Hospital,Bucharest, Romania. - - 2014
We report the case of a 84-year-old admitted with symptoms of congestive heart failure. Ultrasonography revealed a hyperechoic nodule in the left lobe of the liver, with a peripheral hypoechoic rim, multiple irregular hypoechoic nodules in both hepatic lobes, portal vein, inferior vena cava, and right atrium thrombosis. On ultrasonographic ...
Takahashi Kazuhiro K Department of Pediatric Cardiology, Okinawa Children's Medical Center, Okinawa, - - 2014
Chromosomal abnormalities as well as non-cardiac anomalies have been identified as independent risk factors for surgical morbidity and mortality in Fontan palliation. The combination of malformations consisting of pulmonary hypoplasia, agonadism (sex reversal), omphalocele, and diaphragmatic defect is compatible with pulmonary artery and lung hypoplasia, agonadism, omphalocele, and diaphragmatic defect ...
Aminde Leopold N LN 1 Department of Internal Medicine, Faculty of Health Sciences, University of Buea, Buea, Cameroon ; 2 Department of Internal Medicine, General Hospital Douala, Douala, Cameroon ; 3 St Elisabeth Catholic General Hospital, Cardiothoracic Centre, Shisong, - - 2014
Lutembacher syndrome (LS) is a rare cardiac clinical entity marked by the combination of an atrial septal defect (ASD) and mitral stenosis (MS). Its prognosis is influenced by several factors. We present the case of a young adult male who presented with a 10-month history of exertional dyspnea, orthopnoea, fatigue ...
Mourato Felipe Alves FA Unidade de Cardiologia Materno-Fetal, Recife, PE, - - 2014
To determine the frequence and profile of congenital heart defects in Down syndrome patients referred to a pediatric cardiologic center, considering the age of referral, gender, type of heart disease diagnosed by transthoracic echocardiography and its association with pulmonary hypertension at the initial diagnosis. Cross-sectional study with retrospective data collection ...
Overman Jeroen Paardekooper JP Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, - - 2014
Noonan syndrome (NS) is an autosomal dominant disorder caused by activating mutations in the PTPN11 gene encoding for Shp2, which manifests in congenital heart disease, short stature and facial dysmorphia. The complexity of Shp2 signaling is exemplified by the observation that LEOPARD syndrome (LS) patients possess inactivating PTPN11 mutations yet ...
Komiyama Masaki M Department of Neuro-Intervention, Osaka City General Hospital, 2-13-22, Miyakojima-Hondori, Miyakojima, Osaka, 534-0021, Japan, - - 2014
Spinal arteriovenous metameric syndrome (SAMS) is a combination of more than two separate vascular malformations in the same embryonic metameres. This syndrome, also known as Cobb syndrome, is rare, especially in the neonate. A neonatal girl with a birthmark in the occipital and posterior nuchal regions presented with severe heart ...
Lacey Cameron C Department of Psychological Medicine, University of Otago, Christchurch, New Zealand. Electronic address: - - 2014
The development of somatoform illnesses is often associated with prior psychiatric illness and life stress. Broken heart syndrome has been associated with a range of stressors and we aimed to investigate if psychiatric illnesses are risk factors for developing broken heart syndrome. We systematically assessed for antecedent psychiatric risk factors ...
Stuckey Melanie I MI School of Kinesiology, The University of Western Ontario, London, Canada; Aging, Rehabilitation and Geriatric Care Research Centre, Lawson Health Research Institute, London, - - 2014
A number of cross-sectional studies have examined associations between heart rate variability and metabolic syndrome, but differences in study populations, data collection and analysis methodologies make synthesis difficult. The purpose of this study was to systematically review published primary research examining associations between heart rate variability parameters and metabolic syndrome ...
Ren Sidney Y SY Center for Cardiovascular Research and Alternative Medicine, School of Pharmacy, University of Wyoming College of Health Sciences, Laramie, WY 82071 - - 2014
Metabolic syndrome (MetS) is a constellation of multiple metabolic risk factors including abdominal obesity, glucose intolerance, insulin resistance, dyslipidemia and hypertension. Over the past decades, the prevalence of metabolic syndrome has increased dramatically, imposing a devastating, pandemic health threat. More importantly, individuals with metabolic syndrome are at an increased risk ...
Burgazli K M KM Wuppertal Research and Medical Center, Department of Internal Medicine and Angiology, Wuppertal, Germany. - - 2014
We report on the case of a 13-year-old female presenting with dizziness and nausea related to high blood pressure. A complete medical evaluation revealed that the patient had middle-aortic syndrome (MAS), in which there was a severe stenosis of the abdominal aorta that affected her renal and visceral arteries. If ...
M van Haelst Mieke M Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The - - 2014
MED13L haploinsufficiency syndrome has been described in two patients and is characterized by moderate intellectual disability (ID), conotruncal heart defects, facial abnormalities and hypotonia. Missense mutations in MED13L are linked to transposition of the great arteries and non-syndromal intellectual disability. Here we describe two novel patients with de novo MED13L ...
Mathur Deepan D 1Pediatric Pathology, Department of Pathology, - - 2014
Noonan Syndrome is an autosomal dominant disorder characterized by short stature, congenital heart defects, developmental delay, dysmorphic facial features and occasional lymphatic dysplasias. The features of Noonan Syndrome change with age and have variable expression. The diagnosis has historically been based on clinical grounds. We describe a child that was ...
Dykes Iain M IM Cardiovascular Medicine, University of - - 2014
22q11 deletion syndrome arises from recombination between low copy repeats on chromosome 22. Typical deletions result in hemizygosity for TBX1 associated with congenital cardiovascular disease. Deletions distal to the typically deleted region result in a similar cardiac phenotype but lack extra-cardiac features of the syndrome suggesting that a second haploinsufficient ...
Nguyen Hoang H HH Department of Pediatrics, Washington University School of Medicine, St. Louis, - - 2014
Tetralogy of Fallot and a complete atrioventricular septal defect are thought to arise by distinct mechanisms, yet their co-occurrence is a recognized association. Analysis of the prevalence of co-occurrence in Down syndrome suggests a common developmental basis. Trisomy 21 may perturb cardiac progenitor cells before they enter the heart tube.
Sreenivasa Kumar M L ML Department of Cardiology, SVIMS, Tirupati, Andhra - - 2014
Metabolic syndrome is associated with the development of diabetes mellitus and cardiovascular disease. The impact of metabolic syndrome on the progression of atherosclerosis has been well documented. This study was designed to evaluate the impact of metabolic syndrome on global left ventricular function by using left ventricular myocardial performance index ...
Caro Milagros M 1 Department of Cardiology, Instituto Cardiovascular de Buenos Aires, Buenos Aires, - - 2014
Down syndrome is the most common chromosomal abnormality, with an incidence of one case in every 650 live births. It is strongly associated with heart disease, which constitutes the main cause of mortality during the first 2 years of life in this population. Most of the cardiac abnormalities in patients ...
Russell Mark R MR Department of Pediatrics, University of - - 2014
Recurrent 2q13 deletion syndrome is associated with incompletely penetrant severe cardiac defects and craniofacial anomalies. We used an atypical, overlapping 1.34 Mb 2q13 deletion in a patient with pathogenically similar congenital heart defects (CHD) to narrow the putative critical region for CHD to 474 kb containing 6 genes. To determine ...
Szczechowicz Marcin M Pediatric Cardiac Surgery, Universitätsklinikum Münster, Münster, - - 2014
Hypoplastic left heart syndrome with dextrocardia and situs solitus is a very rare condition. We describe a 3.5-year-old male child with this constellation who underwent multistage repair and a successful extracardiac Fontan operation in our hospital.
Valdez Carolina M CM Department of Ginecology and Obstetrics, Hospital Materno Infantil Presidente Vargas (HMIPV), Porto Alegre, RS, - - 2014
The association between encephalocele and radial defects is considered uncommon. These features have been occasionally described separately in certain recurrent conditions such as VACTERL association, oculo-auriculo-vertebral spectrum and Edwards syndrome (trisomy 18). DK-phocomelia is a rare syndrome characterized by both findings. However, Froster-Iskenius and Meinecke [1992, Clin Dysmorphol 1: 37-41] ...
Frietsch Jochen J JJ Klinik für Innere Medizin II, Hämatologie und internistische Onkologie, Universitätsklinikum Jena, Jena, - - 2014
Myelodysplastic syndrome (MDS) comprises a heterogeneous group of clonal disorders of haematopoietic stem cells, characterized by dysplastic haematopoiesis and dysregulated apoptosis resulting in various degrees of cytopenia. Whereas canonical cytologic, cytogenetic and histopathologic findings guiding the diagnosis MDS are widely accepted, the MDS-phenotype can be masked by coexisting / paraneoplastic immunologic disease. ...
Caetano Francisca F Serviço de Cardiologia, Centro Hospitalar e Universitário de Coimbra, Hospital Geral, Coimbra, Portugal. Electronic address: - - 2014
Worsening renal function has an unquestionably negative impact on prognosis in patients with acute heart failure (HF). In Portugal there is little information about the importance of this entity in HF patients admitted to hospital. The objective of this work was to assess the prevalence of cardiorenal syndrome and to ...
Patel Ravi B RB Department of Medicine, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, - - 2014
This article provides a brief overview of the clinical presentation, laboratory and radiologic features, and basic management principles in patients with congestive heart failure (CHF) and acute coronary syndromes (ACS). CHF is a clinical syndrome that typically results in symptoms of congestion and hypoperfusion. A thorough physical examination complemented by ...
Lewandrowski Kent B KB Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Gray 5 Chemistry, Boston, MA 02114, USA. Electronic address: - - 2014
The utility of blood biomarkers of cardiac myocyte damage such as troponin T and I in the evaluation of acute coronary syndromes and heart failure is well established. However, some of these markers may also be elevated in other conditions, such as myocarditis, cardiac transplant rejection, and several other conditions. ...
Desai Nayan N 1Department of Medicine, Cooper University Hospital, Camden, NJ; and 2Department of Medicine, Seth G S Medical College and KEM Hospital, Parel, - - 2014
Idiopathic hypereosinophilic syndrome was first defined by Chursid et al in 1975; however, following the advances in molecular biology, the World Health Organization has proposed a classification in 2008. Hypereosinophilic syndrome is a heterogeneous group of uncommon disorders characterized by marked peripheral eosinophilia and end-organ manifestation. The authors describe a ...
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