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Shu Juan J Department of Cardiology, the First Hospital, Xi'an Jiaotong University, Xi'an, - - 2014
A 5-year-old female child with bilateral hand syndactyly, QT prolongation and 2:1 atrioventricular (AV) block was seen in consultation. The genetic testing identified a mutation in CACNA1C gene, confirming type 1 Timothy syndrome (LQT8). This article is protected by copyright. All rights reserved.
Cecilia Gonzalez M GM Department of Pediatric Cardiology and Pediatric Intensive Care, Cliniques Universitaires St Luc, Brussels, - - 2014
Torsades de Pointes is an extremely rare arrhythmia in children associated to LQT syndrome. Pheochromocytomas are also extremely rare tumours in the paediatric age. We present a case of a young patient with an acquired long QT syndrome complicating with Torsades de Pointes as first clinical manifestation of a pheochromocytoma.
Mazzanti Andrea A Molecular Cardiology, IRCCS Salvatore Maugeri Foundation, Pavia, - - 2014
Up to 14,500 young individuals die suddenly every year in Europe of cardiac pathologies. The majority of these tragic events are related to a group of genetic defects that predispose the development of malignant arrhythmias (inherited arrhythmogenic diseases [IADs]). IADs include both cardiomyopathies (hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, dilated ...
Olde Nordkamp L R A LR Heart Center, Department of Cardiology, Academic Medical Centre, PO Box 22700, 1100 DE, Amsterdam, the - - 2014
Treating therapy-resistant patients with inherited arrhythmia syndromes can be difficult and left cardiac sympathetic denervation (LCSD) might be a viable alternative treatment option. We provide an overview of the indications and outcomes of LCSD in patients with inherited arrhythmia syndromes in the only tertiary referral centre in the Netherlands where ...
Hocini Mélèze M Institut LIRYC, Hôpital Cardiologique du Haut Lévêque, Université Victor Segalen Bordeaux II, Bordeaux, Pessac, - - 2014
Inherited arrhythmia disorders associated with structurally normal heart (i.e. long and short QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, early repolarization syndrome, idiopathic ventricular fibrillation) cause 10% of 1.1 million sudden deaths in Europe and the USA. The purpose of this European Heart Rhythm Association (EHRA) electrophysiology wire survey ...
Fugate Jennifer E JE Division of Critical Care Neurology, Department of Neurology. Electronic address: - - 2014
To describe causes, manifestations, and diagnosis of serotonin syndrome following therapeutic hypothermia (TH) after cardiac arrest METHODS: Retrospective case series from a tertiary academic medical center RESULTS: Three male patients suffered witnessed out-of-hospital cardiac arrests and were treated with induced TH. Initial cardiac rhythms included asystole in two and ventricular ...
Natasha Barrios - - 2014
Dermoid sinus is an uncommon epithelial-lined fistula that may be associated with vertebral malformations. In humans, Klippel-Feil syndrome (KFS) is a rare condition characterized by congenital cervical vertebral fusion and may be associated with other developmental defects, including dermoid sinus. The present case report describes an adult Dachshund with cervical ...
Değirmencioğu Aleks A Department of Cardiology, Acıbadem University Faculty of Medicine, İstanbul, Turkey. - - 2014
We report a 68-year-old man who presented with heart failure and atrial fibrillation (AF) with rapid ventricular response and wide QRS complexes. Tachycardia-induced cardiomyopathy (TIC) due to persistent AF developing on the basis of Wolff-Parkinson-White (WPW) syndrome was considered. Signs and symptoms of heart failure improved with restoration of sinus ...
Kurtulmuş Seçil S Department of Maternity and Gynecology, Ege Training and Research Hospital, İzmir, - - 2014
We aimed to present a fetus with Meckel-Gruber syndrome (MKS) who had left atrial isomerism, heterotaxy syndrome and complete heart block. A 26-year-old healthy female was referred to our clinic in the 23rd week of her pregnancy. The fetus had multiple systemic anomalies including fetal heart. Fetal echocardiography revealed a ...
Van Asbroeck P J - - 2014
Acquired long-QT syndrome is an iatrogenic disorder, usually induced by drugs, which can cause life-threatening arrhythmias. We present a case report on an acquired long-QT syndrome with an interesting confluence of circumstances, and comment on aetiology and treatment.
Kaiser Elisabeth E Heart Institute (Incor), Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, - - 2014
The association between Brugada syndrome (BS) and ventricular preexcitation is a rare condition, with sporadic cases already reported. We report the case of a 29-year-old man, with palpitation unrelated to physical or emotional stress. The electrocardiogram of the first visit revealed a ventricular preexcitation pattern and an end-conduction delay, with ...
Escobar-Diaz Maria C MC Department of Cardiology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA, - - 2014
Congenital atrioventricular (AV) block is commonly associated with heterotaxy syndrome; together they have reportedly low survival rates (10-25 %). However, information about perinatal outcome and predictors of non-survival after prenatal diagnosis of this association is scarce. Therefore, we studied fetuses with heterotaxy syndrome and bradycardia or AV-block diagnosed between 1995 and ...
Tempelhof Michael M Northwestern University, 251 East Huron Street, Feinberg 08-503, Chicago, IL 60611 USA. - - 2014
Superior vena cava (SVC) syndrome is a complication resulting from long-term residence of leads or in-dwelling catheters at the SVC to right atrial (RA) junction. SVC syndrome management is complicated by variable responses to anticoagulation therapies and technically challenging interventional procedures, such as balloon dilatation or stent placement at the ...
Kowalczyk Ewelina - - 2014
We describe a patient with severe hypothermia, in whom the electrocardiogram showed giant J-waves, also known as Osborn waves, distinguishable in the inferior and anterolateral leads. Moreover, a Brugada-like pattern was also visible in leads V2 and V3. The presented case and ECG findings may contribute to the discussion about ...
Takaya Yoichi Y Department of Cardiovascular Medicine, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, - - 2014
Platypnea-orthodeoxia is a rare condition characterized by dyspnea and oxygen desaturation induced by the upright position and relieved by recumbency. The most common cause of this syndrome is right-to-left shunt through interatrial communications such as patent foramen ovale (PFO) or atrial septal defect (ASD). In addition, this syndrome can be ...
Nelson Jessie G JG Emergency Medicine Department, Regions Hospital, St. Paul, Minnesota; Department of Emergency Medicine, University of Minnesota, Minneapolis, - - 2014
Atrial flutter with 1:1 atrioventricular conduction via an accessory pathway is an uncommon presentation of Wolff-Parkinson-White syndrome not previously reported in the emergency medicine literature. Wolff-Parkinson-White syndrome, a form of ventricular preexcitation sometimes initially seen and diagnosed in the emergency department (ED), can present with varied tachydysrhythmias for which certain ...
McKinnie J E JE Department of Anesthesiology, University of Tennessee Health Sciences Center, Memphis, TN, - - 2014
Oral-Facial-Digital syndrome or Mohr syndrome is a rare congenital disorder characterized by malformations of face, oral cavity, laryngeal structures, trachea, and digits, muscular-skeletal abnormalities, and congenital cardiac defects. In this case report, we describe the anesthetic management of a parturient with Oral-Facial-Digital syndrome type II and repaired tetralogy of Fallot ...
Goto Hiroko H Gifu Prefectural General Medical Center, Gifu, - - 2014
T-wave alternans (TWA), a beat-to-beat fluctuation in T wave morphology and QT interval, is commonly observed in patients with congenital long-QT syndrome (LQTS). However, only a few studies have focused on changes within the QRS complex during TWA. We report a case of LQTS who exhibited prominent QRST-wave alternans (QRSTWA) ...
Maher Patrick Joseph - - 2014
ABSTRACTFeatures consistent with the syndrome known as excited delirium (ExDS) have been associated with law enforcement restraint-related death. The pathophysiology and exact causative factors of restraint-related death associated with ExDS remain unclear. We present a case of successful field resuscitation of a man with ExDS who experienced cardiopulmonary arrest while ...
Vadivelu Ramalingam R Department of Cardiology, Advanced Cardiac Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, - - 2014
An 18-year-old male with Lutembacher's syndrome underwent balloon mitral valvotomy (BMV) and device closure of the atrial septal defect (ASD). BMV necessitated technical modification of taking the Inoue balloon over the wire (OTW) into the left ventricle (LV). The procedure was complicated by slippage of ASD device into the right ...
Chockalingam Priya P Department of Clinical and Experimental Cardiology, Academic Medical Center, Meibergdreef 9, 1105AZ Amsterdam, The Netherlands. Electronic address: - - 2014
Inherited primary arrhythmias, namely congenital long QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia, account for a significant proportion of sudden cardiac deaths in young and apparently healthy individuals. Genetic testing plays an integral role in the diagnosis, risk-stratification and treatment of probands and family members. It is increasingly ...
- - 2013
Eisenmenger's syndrome is a condition due to any congenital heart defect with an intracardiac left-to-right communication that leads to pulmonary hypertension with reversed right-to-left blood flow and secondary cyanosis. The main complications of Eisenmenger's syndrome are heart failure and arrhythmias. Amiodarone, the drug of choice for arrhythmia treatment in such ...
Tepe Savaş S Department of Radiology, Bayındır Hospital, İstanbul, Turkey. - - 2013
We report herein an 83-year-old gentleman with lung cancer who presented with nausea, complete atrioventricular (AV) block and presyncope. Despite a present temporary pacemaker, which had been inserted through the femoral vein 5 days previously, the patient had asystole attacks that resolved with atropine administration. Coronary angiography demonstrated no critical ...
Sakamoto Naka - - 2013
We describe three cases of J-wave syndrome in which ventricular fibrillation (VF) was probably induced by corticosteroid therapy. The patients involved were being treated with prednisolone for concomitant bronchial asthma. One of the three patients had only one episode of VF during her long follow-up period (14 years). Two patients ...
Zumhagen Sven - - 2013
The development of pharmacologic agents for the treatment of diseases is still challenging, especially in rare inherited arrhythmia syndromes like long and short QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. The underling pathophysiologic mechanism of these inherited diseases is in most cases either a gain- or a loss-of-function ...
Tsai Chia-Ti - - 2013
CHA2DS2-VASC may not be better than CHADS2 in predicting thromboembolic risk for patients with atrial fibrillation (AF) in Asians. Metabolic syndrome is associated with an increased risk of thrombosis. We sought to evaluate if metabolic syndrome offers incremental information over CHADS2 scheme in predicting thromboembolic risk for AF patients in ...
Hakim Kaouthar K Department of Pediatric Cardiology, Rabta University Hospital, - - 2014
Costello syndrome is a rare syndrome associated with de novo mutations in the HRAS gene. It is mostly revealed during in the first months of life by growth retardation, facial dysmorphic features, skin and cardiac abnormalities and subsequent cognitive deficit of varying severity. We report a case of Costello syndrome ...
Paladini Dario - - 2013
Two cases of prospective ultrasound diagnosis of Holt-Oram Syndrome (HOS) are described. Both were characterised by a significant right atrial enlargement, not due to a concurrent tricuspid regurgitation or other cardiac anomalies. And in both cases, the skeletal anomaly was very subtle and barely visible at ultrasound. Interestingly, despite the ...
Rotondi F - - 2013
We report the case of a 65-year-old woman with late recurrence of tako-tsubo syndrome, idiopathic dilated cardiomyopathy and prior iterative ventricular tachycardia. We hypothesize that the pathophysiological link among these clinical conditions could be the hyperactivity of the sympathetic nervous system.
Bali Harinder K HK Director Cardiology, Dept. of Cardiology, Fortis Hospital, Sector 62, Phase VIII, Mohali 160062, Punjab, India. Electronic address: - - 2013
Twiddler syndrome is a form of pacemaker lead dislocation caused by the coiling of the pacemaker leads due to pulse generator rotation on its long axis. Similar to Twiddler syndrome, Reel syndrome occurs due to rotation of the pulse generator on its transverse axis, leading to lead dislocation or fracture, ...
Pilcher Thomas A - - 2014
This article informs the general pediatrician about the diagnosis, evaluation, and treatment of teenage patients with presyncope and loss of consciousness. The focus is on distinguishing noncardiac fainting from life-threatening syncope. Current treatment strategies of vasovagal syncope and postural orthostatic tachycardia syndrome are also outlined.
Brownstein Catherine A - - 2013
KCNJ8 (NM_004982) encodes the pore forming subunit of one of the ATP-sensitive inwardly rectifying potassium (KATP) channels. KCNJ8 sequence variations are traditionally associated with J-wave syndromes, involving ventricular fibrillation and sudden cardiac death. Recently, the KATP gene ABCC9 (SUR2, NM_020297) has been associated with the multi-organ disorder Cantú syndrome or ...
Arifputera A - - 2013
A 68-year-old man presented with a six-month history of painless dysphagia, malnutrition, anorexia and vocal hoarseness. Signs of severe mitral regurgitation and preserved left atrial dimensions were shown on transthoracic echocardiogram. However, his electrocardiography and chest radiograph were strongly suggestive of left atrial enlargement. Further investigations confirmed extrinsic compression of ...
Campuzano Oscar - - 2013
Brugada syndrome is an inherited cardiac condition transmitted with an autosomal dominant pattern which can lead to sudden cardiac death from malignant ventricular arrhythmias. The RANGRF gene has recently been proposed to be associated with Brugada syndrome. This gene encodes the MOG1 protein, a co-factor required for the full functioning ...
Srinivas Sunil K - - 2013
A 4-month-old male infant presented with recurrent cough for 2 months. He had a shortened right upper limb with absent right thumb and continuous murmur in the left parasternal area. The X-ray showed an absent radius and the first metacarpal and phalyngeal bones on the right side. Echocardiogram revealed aortopulmonary ...
Fukui Shinya - - 2013
We treated a 21-year-old man with right ventricular thrombus caused by nephrotic syndrome. The right ventricular thrombus was safely removed and his postoperative course was uneventful. Peri- and postoperative management after surgery for the worsened nephrotic syndrome was relatively unique and difficult, and critical care was essential for saving the ...
Cho Ah-Reum - - 2013
Myoclonic status epilepticus (MSE) within the first 24 hours after cardiopulmonary resuscitation (CPR) predicts poor prognosis, enough to discontinue the treatment. In contrast, chronic MSE appearing a few days after CPR is called Lance-Adams syndrome (LAS), which is characterized by preserved intellect and a favorable prognosis. We herein report a ...
Guevar Julien - - 2013
Cavernous sinus syndrome is characterised by internal and external ophthalmoplegia and sensory deficits over the head due to combined deficits of the three cranial nerves (CNs) responsible for the eye movements and pupil function (CN III, IV, VI) and at least one branch of the trigeminal nerve (CN V). It ...
Rogińska Natalia - - 2013
A case of related individuals affected by sick sinus syndrome is presented in this study. The clinical and electrocardiographic signs of sinus node dysfunction and the most common causes of this disease are presented. Subsequently, the article includes descriptions of sinus node disease in three related children as well as ...
Antzelevitch Charles - - 2013
An early repolarization (ER) pattern in the ECG, consisting of J point elevation, distinct J wave with or without ST segment elevation or slurring of the terminal part of the QRS, was long considered a benign electrocardiographic manifestation. Experimental studies a dozen years ago suggested that an ER is not ...
Onalo R - - 2013
Case report: We describe the clinical manifestation and the challenges of diagnosing Long QT syndrome, type 1 (LQTS1), in an 8-year old girl who presented at the Paediatric Cardiology Clinic with syncopal attacks following dancing and excitement. Her initial ECG showed normal QT interval of 380msec (QTc = 440 msec), ...
Guo Zhi-Jun - - 2013
Survival rates after cardiac arrest have not changed substantially over the past 5 decades. Postcardiac arrest (CA) syndrome (PCAS) is the primary reason for the high mortality rate after successful restoration of spontaneous circulation (ROSC). Intravenous administration of Shenfu Injection (, SFI) may attenuate post-CA myocardial dysfunction and cerebral injury, ...
Sekiguchi Kazuhito - - 2013
A male infant, born at 32 weeks gestation by cesarean because of hydrops fetalis, presented with multiple anomalies, such as sparse and curly scalp hair, absent eyebrows, frontal bossing, an atrial septal defect, pulmonary artery stenosis, and whole myocardial thickening. He was clinically diagnosed with cardio-facio-cutaneous (CFC) syndrome, and was ...
Pregowska Katarzyna - - 2013
Encephalocraniocutaneous lipomatosis (ECCL, Haberland syndrome, Fishman syndrome) is a very rare congenital disorder, involving skin, eye, bone and central nervous system malformations. In this paper we present a case of a 2-month-old boy with encephalocraniocutaneous lipomatosis diagnosed on the basis of characteristic clinical manifestations and neuroimaging findings. Neurologically, the child ...
Dolmatova Elena - - 2013
A wide range of inherited syndromes can result in ventricular arrhythmias and sudden cardiac death (SCD). The natural histories of inherited arrhythmia syndromes are highly variable and current risk stratification techniques are limited. Thus, the management of these conditions can be difficult and often involves a combination of risk assessment, ...
Tonelo David - - 2013
The cardiovascular effects of alcohol are well known. However, most research has focused on the beneficial effects (the "French paradox") of moderate consumption or the harmful consequences, such as dilated cardiomyopathy, associated with heavy consumption over an extended period. An association between the ingestion of acute alcohol and onset of ...
Bezzina Connie R CR Department of Clinical and Experimental Cardiology, Heart Failure Research Center, Academic Medical Center, Amsterdam, The Netherlands. - - 2013
Brugada syndrome is a rare cardiac arrhythmia disorder, causally related to SCN5A mutations in around 20% of cases. Through a genome-wide association study of 312 individuals with Brugada syndrome and 1,115 controls, we detected 2 significant association signals at the SCN10A locus (rs10428132) and near the HEY2 gene (rs9388451). Independent ...
Boukens Bastiaan J - - 2013
Abstract George Ralph Mines studied the basic principles of reentry and published his data in the Journal of Physiology in 1913. Exactly hundred years later we discuss his first electrophysiological experiments and how his results lead to the insight that was the basis for the treatment of the clinical arrhythmias ...
Remme Carol Ann - - 2013
Over the last two decades, an increasing number of SCN5A mutations have been described in patients with long QT syndrome type 3 (LQT3), Brugada syndrome, (progressive) conduction disease, sick sinus syndrome, atrial standstill, atrial fibrillation, dilated cardiomyopathy, and sudden infant death syndrome (SIDS). Combined genetic, electrophysiological and molecular studies have ...
Zhang Ying-Ying - - 2013
Neuroendocrine and haemodynamic changes were compared between single-lead atrial (AAI) or dual-chamber (DDD) pacing modes in patients with sick sinus syndrome, in a crossover study. Inpatients scheduled for their first pacemaker implantation were screened for the following inclusion criteria: sick sinus syndrome; intact atrioventricular conduction; normal QRS interval. All study ...
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