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Priyanka Srivastava, Himani Pandey, Divya Agarwal, Kausik Mandal, Shubha R Phadke
We describe three consanguineous Indian families with a distinct form of spondyloepiphyseal dysplasia (SED Omani type). It is an autosomal recessive disorder due to mutation in CHST3 gene. CHST3 gene encodes the enzyme chondroitin 6-O-sulfotransferase-1 (C6ST-1) which mediates the sulfation of proteoglycans, (chondroitin sulfate), in the extracellular matrix of cartilage. CHST3 gene was sequenced in probands from three different families with SED. In two families missense mutations (c.904G>C predicting the substitution D302H) and c...
October 18, 2016: American Journal of Medical Genetics. Part A
Seneesh Kumar Vikraman, Vipin Chandra, Bijoy Balakrishnan, Sunil Jaiman, Meenu Batra, Gopinathan Kannoly
The anatomic causes for fetal right atrial dilatation with tricuspid regurgitation include Ebstein anomaly, tricuspid dysplasia, unguarded tricuspid orifice, and Uhl anomaly. Unguarded tricuspid orifice is characterized by complete or partial agenesis of the tricuspid valvular and subvalvular structures. It is commonly associated with pulmonary atresia. Its prenatal diagnosis is usually associated with unfavorable prognosis. We present a prenatally diagnosed case of fetal unguarded tricuspid orifice with description of its diagnostic workup, along with a review of literature, to enhance the understanding of this rarely reported entity...
October 18, 2016: Journal of Clinical Ultrasound: JCU
Carsten Schwencke, Klaudija Bijuklic, Taoufik Ouarrak, Edith Lubos, Wolfgang Schillinger, Björn Plicht, Holger Eggebrecht, Stephan Baldus, Gerhard Schymik, Peter Boekstegers, Rainer Hoffmann, Jochen Senges, Joachim Schofer
AIMS: The use of the MitraClip system has gained widespread acceptance for the treatment of patients with mitral regurgitation (MR) who are not suitable for the conventional surgery. This study sought to investigate the early and 1-year outcome after MitraClip therapy of patients with MR and cardiac comorbidities. METHODS AND RESULTS: Outcomes through 12-month follow-up of patients (n = 528) who underwent MitraClip implantation were obtained from the German transcatheter mitral valve interventions (TRAMI) registry...
October 17, 2016: Clinical Research in Cardiology: Official Journal of the German Cardiac Society
Pankaj Aggarwal, Anil Bhan
Uniqueness of this case report is that though coronary cameral fistulas are itself rare, we closed fistula effectively in a different way. Since surgery was only good option available as patient had concomitant valvular disease, we closed distal end of fistula in PA and then took deep bites of suture in fistulous track itself. This approach closed fistula effectively and we had no need to dissect and ligate its origin from LAD which is more arduous and dangerous task.
September 2016: Indian Heart Journal
Anikó Ilona Nagy, Ashwin Venkateshvaran, Béla Merkely, Lars H Lund, Aristomenis Manouras
AIMS: The diastolic pulmonary pressure gradient (DPG) has recently been introduced as a specific marker of combined pre-capillary pulmonary hypertension (Cpc-PH) in left heart disease (LHD). However, its diagnostic and prognostic superiority compared with traditional haemodynamic indices has been challenged lately. Current recommendations explicitly denote that in the normal heart, DPG values are greater than zero, with DPG ≥7 mmHg indicating Cpc-PH. However, clinicians are perplexed by the frequent observation of DPG <0 mmHg (DPGNEG ), as its physiological explanation and clinical impact are unclear to date...
October 17, 2016: European Journal of Heart Failure
Simardeep Gill, Min Jun, Pietro Ravani
The prevalence of atrial fibrillation and the risk of stroke display an age-related increase in the chronic kidney disease (CKD) population. Evidence from large randomized controlled trials conducted in the general population supports the use of anticoagulation to reduce the risk of stroke in the setting of non-valvular atrial fibrillation. However, data in the non-dialysis-dependent and dialysis-dependent CKD populations are limited largely to observational studies, which demonstrate conflicting results regarding the risk-benefit profile of anticoagulation...
October 14, 2016: Nephrology, Dialysis, Transplantation
Laila Staerk, Emil Loldrup Fosbøl, Gregory Y H Lip, Morten Lamberts, Anders Nissen Bonde, Christian Torp-Pedersen, Brice Ozenne, Thomas Alexander Gerds, Gunnar Hilmar Gislason, Jonas Bjerring Olesen
BACKGROUND: Non-vitamin K antagonist (VKA) oral anticoagulants (NOACs) are widely used as stroke prophylaxis in non-valvular atrial fibrillation (AF), but comparative data are sparse. PURPOSE: To compare dabigatran, rivaroxaban, and apixaban vs. VKA and the risk of stroke/thromboembolism (TE) and intracranial bleeding in AF. METHODS: Using Danish nationwide registries (2011-15), anticoagulant-naïve AF patients were identified when initiating VKA or an NOAC...
October 14, 2016: European Heart Journal
Alain G Bertoni, Holly Kramer, Karol Watson, Wendy S Post
Diabetes mellitus is a major cardiovascular risk factor and its prevalence has been increasing globally. This review examines the contributions of the MESA (Multi-Ethnic Study of Atherosclerosis), a diverse American cohort (6,814 adults ages 45 to 84, recruited from 2000 to 2002, 50% female, 62% nonwhite) toward understanding the relationship between diabetes and clinical and subclinical cardiovascular disease. People with diabetes have a high burden of subclinical vascular disease as measured by coronary artery calcification (CAC), carotid artery intima-media thickness, valvular calcification, and alterations in left ventricular structure...
September 2016: Global Heart
Marco Ritelli, Silvia Morlino, Edoardo Giacopuzzi, Giulia Carini, Valeria Cinquina, Nicola Chiarelli, Silvia Majore, Marina Colombi, Marco Castori
Filamin A is an X-linked, ubiquitous actin-binding protein whose mutations are associated to multiple disorders with limited genotype-phenotype correlations. While gain-of-function mutations cause various bone dysplasias, loss-of-function variants are the most common cause of periventricular nodular heterotopias with variable soft connective tissue involvement, as well as X-linked cardiac valvular dystrophy (XCVD). The term "Ehlers-Danlos syndrome (EDS) with periventricular heterotopias" has been used in females with neurological, cardiovascular, integument and joint manifestations, but this nosology is still a matter of debate...
October 14, 2016: American Journal of Medical Genetics. Part A
Newton B Wiggins, Daniel T Chong, Penny L Houghtaling, Ayman A Hussein, Walid Saliba, Joseph F Sabik, Oussama Wazni, Bruce L Wilkoff, Khaldoun G Tarakji
AIMS: The incidence, indications, and risk factors for cardiac implantable electronic device (CIED) implantation after cardiac surgery in an era with an aging population are not well described. There are limited data about the survival of these patients compared with a non-device group. We aimed to evaluate the incidence, indications, and risk factors for postoperative CIED implantation. We also assessed survival of these patients compared with a non-device group. METHODS: We included all patients without prior CIED implantation who underwent cardiac surgery at our institution from 1996 to 2008...
October 12, 2016: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
Boyang Liu, Nicola C Edwards, Simon Ray, Richard P Steeds
Mitral regurgitation (MR) is the second most common form of valvular disease requiring surgery. Correct identification of surgical candidates and optimising the timing of surgery is key in management. For primary MR, this relies upon a balance between the perioperative risks and rates of successful repair in patients undergoing early surgery when asymptomatic with the potential risk of irreversible left ventricular dysfunction if intervention is performed too late. For secondary MR, recognition that this is a highly dynamic condition where MR severity may change is key, although data on outcomes in determining whether concomitant valve intervention is performed with revascularisation has raised questions regarding timing of surgery...
October 13, 2016: Echo Research and Practice
Lara Cusack, Cara Field, Alexa McDermott, Brandon Pogue, Tonya Clauss, Gregory Bossart, Alvin Camus
A 19-year-old male African penguin ( Spheniscus demersus ) was presented with coelomic distention after a 6-week history of lethargy and decreased appetite. Results of radiographs showed loss of coelomic detail, and ultrasound and computed tomography results revealed coelomic fluid and dilated hepatic veins. Echocardiography revealed moderate right atrial enlargement. Findings were consistent with right-sided cardiac disease. Treatment with furosemide initially reduced ascites, but the clinical condition worsened weeks later and enalapril, pimobendan, and sildenafil were added to the medical therapy...
September 2016: Journal of Avian Medicine and Surgery
Jamshed J Dalal, Anil Dhall, Abhay Bhave
Oral vitamin K antagonists (VKA) such as warfarin have been the mainstay of therapy for stroke prevention in patients with non valvular atrial fibrillation (NVAF) while low-molecular-weight heparin, fondaparinux and adjusted-dose warfarin or aspirin have been routinely used for thromboembolism (VTE) prophylaxis in patients undergoing total hip or knee replacement. However, VKAs are associated with considerable limitations, including increased risk of bleeding and narrow therapeutic window. Novel oral anticoagulants (NOACs, now referred as Non Vit K dependent oral anticoagulants), including the direct thrombin inhibitor dabigatran and direct Factor Xa inhibitors such as rivaroxaban and apixaban are now approved alternatives to warfarin for prophylaxis of stroke and systemic embolic events (SEE) in patients with NVAF and treatment and prophylaxis of VTE...
April 2016: Journal of the Association of Physicians of India
Ngai-Yin Chan, Chi-Chung Choy
OBJECTIVE: The purpose of this study was to assess the feasibility of community screening for atrial fibrillation (AF) using a smartphone-based wireless single-lead ECG (SL-ECG) and to generate epidemiological data on the prevalence and risk factors of AF in Hong Kong. METHODS: In the period between 1 May 2014 to 30 April 2015, 13 122 Hong Kong citizens consented and voluntarily participated in a territory-wide community-based AF screening programme. RESULTS: 56 (0...
October 12, 2016: Heart: Official Journal of the British Cardiac Society
Neeraj Nagpal
Physicians and Internists in India have tended to brush under the carpet legal issues affecting their profession. Of concern to all Physicians is the judgment in a recent case where the NCDRC has stated that if MD Medicine Physicians write Physician & Cardiologist on their letterhead it is Quackery. What is MD Medicine degree holder in India qualified and trained to treat ? These are issues which need debate and that can only be initiated once we recognize that there is a problem. Either an MD Medicine is a cardiologist or he is not...
February 2016: Journal of the Association of Physicians of India
Giosuè Mascioli, Elena Lucca, Federica Michelotti, Giusy Alioto, Franco Santoro, Guido Belli, Cristina Rota, Ombretta Ornago, Giovanni Sirianni, Emanuela Pulcini, Matteo Pennesi, Carlo Savasta, Rosario Russo, Antonino Pitì
BACKGROUND: Patients with atrial fibrillation (AF) have an increased thromboembolic risk, that can be estimated with risk scores an require sometimes oral anticoagulation therapy (OAT). Despite correct anticoagulation, some patients still develop left atrial spontaneous echo contrast (SEC) or thrombosis. The value of traditional risk scores (R2 CHADS2 , CHADS2 and CHA2 DS2 -VASc) in predicting such events remains controversial MATERIAL AND RESULTS: Aim of our study was to explore variables linked to severe SEC or atrial thrombosis and evaluate the performance of traditional risk scores in identifying these patients...
October 12, 2016: Pacing and Clinical Electrophysiology: PACE
Bum-Sul Choi, Hyeong-Sun Moon, Sang-Hyuk Seo, Changbaig Hyun
Reduction in glomerular filtration rate (GFR) is a common complication in advanced stages of heart failure (HF). The convenient and precise assessment for GFR would be useful for early detection of renal impairment in HF dogs. Our hypothesis of this study was the GFR would be reduced in advanced stages of HF from chronic mitral valvular disease (CMVI), as indicated by renal markers including serum cystatin-C (Cys-C) and symmetric dimethylarginine (SDMA) concentrations. Forty-three client-owned dogs consisting of 33 dogs with different stages of HF from CMVI and 10 age-matched healthy dogs were enrolled in this study...
September 30, 2016: Journal of Veterinary Medical Science
Özcan Başaran, Osman Beton, Volkan Doğan, Mehmet Tekinalp, Ahmet Çağrı Aykan, Ezgi Kalaycıoğlu, İsmail Bolat, Onur Taşar, Özgen Şafak, Macit Kalçık, Mehmet Yaman, İbrahim Altun, Mustafa Özcan Soylu, Cevat Kırma, Murat Biteker
OBJECTIVE: Data regarding stroke prevention strategies in non-valvular atrial fibrillation (NVAF) are limited to vitamin K antagonists (VKAs). This study aimed to evaluate real-life stroke prevention strategies for NVAF patients in the era of non-VKA oral anticoagulants (NOACs). METHODS: We established a cross-sectional, multicenter, nationwide registry of NVAF patients. All consecutive atrial fibrillation (AF) patients and without mechanical heart valves or rheumatic mitral stenosis (but including those with any degree of mitral regurgitation) were enrolled in the ReAl-life Multicenter Survey Evaluating Stroke Prevention Strategies (RAMSES Study; ClinicalTrials...
October 2016: Anatolian Journal of Cardiology
Jan C van den Berge, Martijn K Akkerhuis, Alina A Constantinescu, Jan A Kors, Ron T van Domburg, Jaap W Deckers
BACKGROUND: Heart failure (HF) has a poor prognosis. Patients with acute heart failure in particular have a high risk of dying. However, there is a lack of data regarding their long-term mortality and changes there-in with time. The aim of our study was to describe trends in short- and long-term mortality of patients hospitalized with acute HF in the period from 1985 through 2008. In addition, we determined the prognostic worth of the aetiology of HF. METHODS AND RESULTS: We included a consecutive series of 1810 patients with acute HF in this prospective registry in the period of 1985 through 2008...
September 17, 2016: International Journal of Cardiology
Hee-Jin Kwon, Jae-Hyeong Park, Song Soo Kim, Byung Joo Sun, Sun Ah Jin, Jun-Hyung Kim, Jae-Hwan Lee, Siwan Choi, Jin-Ok Jeong, In-Whan Seong
Unicuspid aortic valve (UAV) is an extremely rare form of congenital aortic valvular abnormality. Although UAV shows similar clinical characteristics to bicuspid aortic valve, the clinical symptoms develop at earlier age and progress at a faster pace in UAV. In this report, we are presenting a 42-year-old male with severe aortic stenosis associated with unicommissural UAV. The patients underwent a successful Bentall operation.
September 2016: Journal of Cardiovascular Ultrasound
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