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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.
Rosenthal David D Stanford University, Palo Alto, - - 2014
Hypoplastic left heart syndrome, which occurs in 1 per 5,000 live births, refers to a family of cardiac defects which are characterized by hypoplasia of the structures comprising the left side of the circulation, including the mitral and aortic valves, the left atrium and left ventricle, and the aorta. Infants ...
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 ...
Brescia Alexander A AA Division of Cardiothoracic Surgery, St Louis University School of Medicine and Cardinal Glennon Medical Center, St Louis, - - 2014
Two different strategies have emerged in the initial palliation for hypoplastic left heart syndrome, the conventional Norwood operation and the so-called hybrid procedure. We have used each of these at our center. The purpose of the present study was to compare the outcomes of both procedures. From 2007 to 2012, ...
Podestà Manuel Alfredo MA Nephrology and Dialysis Unit, Humanitas Clinical and Research Center , Rozzano, Milan , Italy - - 2014
Abstract McKittrick-Wheelock syndrome is a rare disorder in which a colorectal tumor (usually a villous adenoma) determines secretory mucous diarrhea, which in turn leads to prerenal acute renal failure, hyponatremia, hypokalemia and metabolic acidosis. Even though the outcome is usually favorable with complete recovery after surgery, the diagnosis is often ...
Prendiville Terence W TW Department of Cardiology, Boston Children's Hospital, , Boston, Massachusetts, - - 2014
Noonan syndrome (NS), a relatively common autosomal dominant disorder with an incidence of 1 in 1000 to 2500 live births, is the most common syndromic cause of congenital heart disease after Trisomy 21. To comprehensively define the spectrum of cardiac morphology and specific clinical course of a large cohort of ...
Hugar Basappa S BS Department of Forensic Medicine, MS Ramaiah Medical College, Bangalore, 560054, - - 2014
Marfan syndrome is an autosomal dominant genetic disorder of the connective tissue. The most serious complications of this syndrome are defects of the heart valves and aorta. Aneurysms of thoracic aorta are known to develop in Marfan syndrome. Other causes for development of aneurysms of the thoracic aorta are trauma, ...
Sen-Chowdhry Srijita S Inherited Cardiovascular Disease Group, Institute of Cardiovascular Science, University College London , - - 2014
Abstract The classic cardiocutaneous syndromes of Naxos and Carvajal are rare. The myocardial disorder integral to their pathology - arrhythmogenic cardiomyopathy - is arguably not uncommon, with a prevalence of up to 1 in 1,000 despite almost certain under-recognition. Yet the study of cardiocutaneous syndromes has been integral to evolution ...
Havrankova Enikö - - 2014
The article presents a case study of a 37-year-old male who was admitted to the Acute Cardiology Unit of our hospital with suspicion of acute coronary syndrome. By invasive imaging examination, acute coronary syndrome was ruled out, but as a secondary finding a foreign body was found in the pericardium ...
Bockenhauer Detlef D Great Ormond Street Hospital for Children NHS Foundation Trust and Institute of Child Health, University College London, 30 Guildford Street, London, WC1N 1EH, UK, - - 2014
Investigations into edema formation in nephrotic syndrome have mostly focused on the primary role of sodium. While there is controversy about whether sodium retention is an inherent aspect of nephrotic syndrome (overfill hypothesis) or a secondary consequence (underfill hypothesis), the critical role of sodium in driving fluid retention is generally ...
Islam A K M Monwarul AK Department of Cardiology, National Institute of Cardiovascular Diseases, - - 2014
Sheehan's syndrome is a rare condition characterized by post-partal panhypopituitarism due to necrosis of adenohypophysis resulting from severe post-partum hemorrhage. Lethargy, amenorrhea and failure of lactation are the usual presenting features. Cardiac involvement in Sheehan's syndrome is rare. The case presented here describes dilated cardiomyopathy in a 36-year-old lady who ...
Lee Teresa M TM 1 Department of Pediatrics, Division of Cardiology, Columbia University Medical Center, New York, New York, United States of - - 2014
Dilated cardiomyopathy is characterised by dilation and impaired systolic function. We present the case of a child with dilated cardiomyopathy caused by a 624 kb duplication of 6q22.31, which includes the phospholamban gene. The patient also has failure to thrive and developmental delay due to complex cytogenetic abnormalities including a ...
Saldarriaga Rivera Lina Maria LM Servicio de Reumatología. Hospital Universitario Clementino Fraga Filho, Universidad Federal de Río de Janeiro (HUCFF-UFRJ), Río de Janeiro, Brasil. Electronic address: - - 2014
Noonan's syndrome is an autosomal dominant genetic disorder with high phenotypic variability, characterized mainly by facial dysmorphism, congenital heart disease and short stature. We describe the case of a male patient diagnosed with Noonan's syndrome and peripheral spondyloarthritis, a previously undescribed association in the literature.
Andrukonis Kate K Kate Andrukonis practices emergency medicine at Alamance Regional Medical Center in Burlington, N.C. Caroline Bell practices at Salem Chest Specialists in Winston-Salem, N.C. Lisa Bodine practices at Family Medicine Associates of Alexandria, Va. Emily H. McDowell practices internal medicine at Huntingdon Medical Foundation in Pasadena, Calif. Suzanne Reich practices family medicine at Wake Forest School of Medicine in Winston-Salem, N.C. Ms. Reich and Tanya Gregory are assistant professors in the Department of Physician Assistant Studies at Wake Forest School of Medicine. The authors have indicated no relationships to disclose relating to the content of this - - 2014
Renal and cardiac diseases are nearly ubiquitous in hospitalized patients and common causes of morbidity in outpatients. Although the connection between the heart and kidneys is relatively well known in the medical community, a more formal classification for the clinical interplay of the two systems has been developed only recently. ...
Virzì Grazia Maria GM Department of Nephrology, Dialysis and Transplantation, San Bortolo Hospital, International Renal Research Institute Vicenza, Via Rodolfi 37, Vicenza 36100, Italy. - - 2014
Organ failure in the heart or kidney can initiate various complex metabolic, cell-mediated and humoral pathways affecting distant organs, contributing to the high therapeutic costs and significantly higher morbidity and mortality. The universal outreach of cells in an injured state has myriad consequences to distant organ cells and their milieu. ...
Opotowsky Alexander R - - 2014
Dramatic advances in the diagnosis and treatment of congenital heart disease (CHD), the most common inborn defect, has resulted in a growing population of adults with CHD. Eisenmenger syndrome (ES) represents the extreme form of pulmonary arterial hypertension associated with CHD, characterized by markedly increased pulmonary vascular resistance with consequently ...
Malhotra Ishan I Department of Internal Medicine, Maimonides Medical Center, Brooklyn, NY, - - 2014
Hyponatremia is one of the most commonly encountered electrolyte abnormalities occurring in up to 22% of hospitalized patients. Hyponatremia usually reflects excess water retention relative to sodium rather than sodium deficiency. Volume status and serum osmolality are essential to determine etiology. Treatment depends on several factors, including the cause, overall ...
Garg Ashish A Department of Critical Care and Emergency Medicine, Sir Ganga Ram Hospital, New Delhi, - - 2014
Acute right heart syndrome is a common occurrence in intensive care units and is associated with a poor prognosis. There is lack of understanding of the involved pathophysiology, standard diagnostic protocols and treatment guidelines. Management goals include ensuring adequate right ventricle (RV) filling, maximizing RV contraction and reducing RV afterload. ...
Lee Mi-Young MY Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, - - 2014
To analyze the spectrum of prenatally diagnosed congenital heart disease in a Korean population with 22q11.2 deletion syndrome, and to provide guidelines for screening 22q11.2 deletion prenatally. This retrospective study evaluated 1,137 consecutive fetuses that had prenatal genetic testing for 22q11.2 deletion because of suspected congenital heart disease between September ...
Oh Ling Zhi Bernice LZ Department of Paediatrics, National University Hospital, Singapore, - - 2014
A male fetus was noted to have an isolated pericardial effusion. At birth, he had dysmorphic features of Down syndrome and extensive petechiae. He was diagnosed to have transient myeloproliferative disorder. The large pericardial effusion and TMD spontaneously resolved. At 4 years of age, he was diagnosed with acute megakaryoblastic ...
Khanna Puneet P Department of Anesthesiology and Intensive Care, All India Institute of Medical Sciences, New Delhi, - - 2014
Maternal connective tissue disorders such as Systemic Lupus Erythematosus (most common), Sjogren's syndrome, mixed connective tissue disorders may lead to the rare condition of complete congenital heart block in the neonate. Rare fetal syndromes such as myocarditis, 18p syndrome, mucopolysaccharidoses and mitochondrial diseases are other causes. The mortality rate of ...
Fitzgerald Kristi K KK Nemours Cardiac Center, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, - - 2014
Aneurysms-osteoarthritis syndrome (AOS) caused by haploinsufficiency of SMAD3 is a recently described cause of syndromic familial thoracic aortic aneurysm and dissection (TAAD). We identified a novel SMAD3 mutation in a patient with hypoplastic left heart syndrome (HLHS) who developed progressive aortic aneurysm requiring surgical replacement of the neoaortic root, ascending ...
Gürsoy Azize Esra AE Bezmi Alem Vakıf University, Medical Faculty, Department of Neurology, Adnan Menderes Bulvarı, 34093 Fatih, Istanbul, Turkey. Electronic address: - - 2013
Patients with an overlap of the pharyngeal-cervical-brachial variant of Guillain-Barré syndrome and Miller Fisher syndrome (PCB/MFS) have rarely been reported. The electrophysiological findings in PCB/MFS are of great interest and may provide insight into the pathophysiology of the disorder. We report the clinical features and nerve conduction study findings in ...
Nosan Gregor - - 2013
Noonan syndrome is a relatively common and heterogeneous genetic disorder, including congenital heart defect in more than half of the cases. If the defect is not large, life expectancy is normal. Here we report on a case of an infant with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy with lethal ...
Thankavel Poonam Punjwani PP Department of Pediatrics, Division of Cardiology, UT Southwestern Medical Center and Children's Medical Center of Dallas, Dallas, - - 2013
An unruptured sinus of Valsalva aneurysm is usually asymptomatic, and a rare, often incidental echocardiographic diagnosis. Its presentation in the neonatal period is extremely rare. We describe this finding in a neonate with hypoplastic left heart syndrome, which has not been previously reported in the literature. This constellation of findings ...
Keller Karsten K Department of Medicine II, University Medical Center Mainz, Johannes Gutenberg-University Mainz, Langenbeckstr. 1, 55131, Mainz, Germany, - - 2013
We report about a 56-year-old man with dyspnoea and leg pain diagnosed with Leriche syndrome and chronic heart failure caused by dilated cardiomyopathy (DCM) with acute cardiac decompensation. Optimising of chronic heart failure therapy with diuretic and antihypertensive drugs leaded to recompensation. A defibrillator was implanted, and afterwards surgical therapy ...
Power Theresa - - 2013
Turner's syndrome, the most common sex chromosome disorder of females, is caused by complete or partial loss of one X chromosome and is associated with a wide range of internal and external manifestations and increased mortality rates (three to nine times the background population). While individuals with Turner's syndrome may ...
Graziani Giorgio - - 2013
The term acute heart failure (AHF) refers to a clinical syndrome with typical symptoms and signs, in which a structural or functional heart abnormality leads to defective oxygen delivery. The term cardiorenal syndrome has been proposed to outline the strict interplay between cardiac and renal function. In the setting of ...
Gosselin-Badaroudine Pascal - - 2013
Nav 1.5 dysfunctions are commonly linked to rhythms disturbances that include type 3 long QT syndrome (LQT3), Brugada syndrome (BrS), sick sinus syndrome (SSS) and conduction defects. Recently, this channel protein has been also linked to structural heart diseases such as dilated cardiomyopathy (DCM).
Chirnomas S Deborah - - 2013
Molecular pathogenesis may be elucidated for inherited bone marrow failure syndromes (IBMFS). The study and presentation of the details of their molecular biology and biochemistry is warranted for appropriate diagnosis and management of afflicted patients and to identify the physiology of the normal hematopoiesis and mechanisms of carcinogenesis. Several themes ...
Eckhauser Aaron W - - 2013
Hypoplastic left ventricle with scimitar syndrome is a rare combination of anatomic lesions. Five patients with this anatomy have been followed up at our institution. Four of these patients are alive: 2 after heart transplant, 1 underwent a Norwood operation, and 1 has survived staged palliation, culminating in a Fontan operation.
Lin Xiaobo - - 2013
Alport syndrome is a hereditary glomerular disease that leads to kidney failure. It is caused by mutations affecting one of three chains of the collagen α3α4α5(IV) heterotrimer, which forms the major collagen IV network of the glomerular basement membrane (GBM). In the absence of the α3α4α5(IV) network, the α1α1α2(IV) network ...
Braam Branko - - 2013
Combined cardiac and renal dysfunction has gained considerable attention. Hypotheses about its pathogenesis have been formulated, albeit based on a relatively small body of experimental studies, and a clinical classification system has been proposed. Cardiorenal syndrome, as presently defined, comprises a heterogeneous group of acute and chronic clinical conditions, in ...
Fagerland Hilde As - - 2013
It is widely accepted that melanin formation may play an immunologic role in invertebrates and ectothermic vertebrates. In farmed Atlantic salmon, cardiomyopathy syndrome (CMS) is a common viral disease associated with severe cardiac inflammation that may be accompanied by heavy melanisation of the heart. By the use of histology, laser ...
Wang Yanyan - - 2013
This study determined the family history and clinical features that suggested autosomal recessive rather than X-linked Alport syndrome. All patients had the diagnosis of Alport syndrome and the mode of inheritance confirmed by genetic testing, and underwent examination at a single centre. Patients comprised 9 males and 6 females with ...
Qureshi Muhammad Yasir - - 2013
Surgical decision in mild forms of hypoplastic left heart syndrome can be challenging. Once a univentricular pathway has been chosen, it can be difficult to reconsider a biventricular repair. A commitment to a palliative pathway is usually considered irreversible after initial univentricular repair. We present this case as an example ...
Cherif Mejda - - 2013
Kidney disease is a rare complication in patients with the Down's syndrome. However, with increased survival, it appears that a growing number of these patients present with glomerulonephritis. Most cases have been reported as case reports and include lesions such as mesangiocapillary glomerulonephritis with hypo-complementemia, crescentic glomerulonephritis with anti-neutrophil cytoplasmic ...
Hall Scott S - - 2013
Abstract Few studies have examined the relationship between heart rate and self-injurious behavior (SIB) shown by individuals with IDD (intellectual and developmental disabilities). In this single-case study, we simultaneously monitored heart rate and activity levels during a functional analysis of severe skin picking behavior exhibited by a young man with ...
Bajwa Ednan K EK 1Pulmonary and Critical Care Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA. 2Department of Medicine, Massachusetts General Hospital, Boston, MA. 3Department of Environmental Health, Harvard School of Public Health, Boston, MA. 4Department of Anesthesia, University of California San Francisco, San Francisco, CA. 5Cardiology Division, Department of Medicine, Massachusetts General Hospital, Boston, - - 2013
Soluble suppression of tumorigenicity-2 is a biomarker of myocardial strain and inflammation. The characteristics of acute respiratory distress syndrome include inflammation and cardiovascular dysfunction. We sought to determine whether plasma soluble suppression of tumorigenicity-2 concentration is associated with outcome and response to conservative fluid management and whether soluble suppression of ...
Ishii Yoshimi - - 2013
POEMS syndrome is a monoclonal plasma cell disorder characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes. High-dose therapy (HDT) and autologous stem cell transplantation (ASCT) are an effective therapy, but optimal treatment options are still under debate. Bortezomib is an important agent for the treatment of patients with ...
O'Connor Matthew J - - 2013
Introduction Ellis-van Creveld syndrome is a rare condition associated with a very high incidence of congenital malformations of the heart. Prior reports have suggested increased morbidity and mortality following surgery for congenital malformations of the heart in patients with Ellis-van Creveld syndrome. Materials and methods The Pediatric Health Information System ...
Johnson Benay - - 2013
Neonatal lupus (NL) is defined by the presentation of the fetus and the newborn who possess autoantibodies received from the mother. It is the dysfunction of the maternal immune system that leads to the production of autoantibodies to anti-Sjögren syndrome-A, anti-Sjögren syndrome-B, and anti-ribonuclear protein antigens. These antibodies are shared ...
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