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https://www.readbyqxmd.com/read/29047356/non-syndromic-cardiac-progeria-in-a-patient-with-the-rare-pathogenic-p-asp300asn-variant-in-the-lmna-gene
#1
Ali J Marian
BACKGROUND: Mutations in LMNA gene, encoding Lamin A/C, cause a diverse array of phenotypes, collectively referred to as laminopathies. The most common manifestation is dilated cardiomyopathy (DCM), occurring in conjunction with variable skeletal muscle involvement but without involvement of the coronary arteries. Much less commonly, LMNA mutations cause progeroid syndromes, whereby an early-onset coronary artery disease (CAD) is the hallmark of the disease. We report a hitherto unreported compound cardiac phenotype, dubbed as "non-syndromic cardiac progeria", in a young patient who carried a rare pathogenic variant in the LMNA gene and developed progressive degeneration of various cardiac structures, as seen in the elderly...
October 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29045589/standardization-of-adult-transthoracic-echocardiography-reporting-in-agreement-with-recent-chamber-quantification-diastolic-function-and-heart-valve-disease-recommendations-an-expert-consensus-document-of-the-european-association-of-cardiovascular-imaging
#2
Maurizio Galderisi, Bernard Cosyns, Thor Edvardsen, Nuno Cardim, Victoria Delgado, Giovanni Di Salvo, Erwan Donal, Leyla Elif Sade, Laura Ernande, Madalina Garbi, Julia Grapsa, Andreas Hagendorff, Otto Kamp, Julien Magne, Ciro Santoro, Alexandros Stefanidis, Patrizio Lancellotti, Bogdan Popescu, Gilbert Habib
Aims: This European Association Cardiovascular Imaging (EACVI) Expert Consensus document aims at defining the main quantitative information on cardiac structure and function that needs to be included in standard echocardiographic report following recent ASE/EACVI chamber quantification, diastolic function, and heart valve disease recommendations. The document focuses on general reporting and specific pathological conditions such as heart failure, coronary artery and valvular heart disease, cardiomyopathies, and systemic diseases...
October 17, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/29045290/the-prognostic-implications-of-two-dimensional-speckle-tracking-echocardiography-in-hypertrophic-cardiomyopathy-current-and-future-perspectives
#3
Thomas Zegkos, Despoina Parcharidou, Dimitrios Ntelios, Georgios Efthimiadis, Haralambos Karvounis
Two-dimensional (2D) speckle tracking echocardiography represents a novel, simple and reproducible technique for the estimation of left ventricular myocardial deformation (strain) and the evaluation of left ventricular twist mechanics. During the last few years, its clinical and prognostic implications in cardiomyopathies and hypertrophic cardiomyopathy (HCM) in particular have been rapidly increasing. Reduced global longitudinal strain is associated with more severe disease and confers an increased risk for major cardiac events, independently of other clinical and echocardiographic risk factors...
October 17, 2017: Cardiology in Review
https://www.readbyqxmd.com/read/29036972/-analysis-of-influencing-factors-of-heart-rate-deceleration-capacity-in-patients-with-dilated-cardiomyopathy
#4
F Y Wang, C Zou, H K Dong, Y C Yang, M W Gao, R Zhao, J L Jin, X J Yang
Objective: To investigate the determinants affecting the heart rate deceleration capacity (DC) in patients with dilated cardiomyopathy (DCM). Methods: One hundred patients with DCM (DCM group) and 202 healthy subjects (control group) were respectively enrolled. Echocardiography and 24 hours electrocardiogram were performed in all subjects. DC value was compared between the two groups. Multiple regression analysis was made to evaluate the related determinants of DC ((age, sex, echocardiographic parameters including the left atrial diameter (LAD) and left ventricular ejection fraction (LVEF))...
September 24, 2017: Zhonghua Xin Xue Guan Bing za Zhi
https://www.readbyqxmd.com/read/29036969/-risk-factors-prevalence-diagnosis-and-treatment-of-hypertrophic-cardiomyopathy-patients-complicating-with-atrial-fibrillation
#5
Z X Xu, W G Zhu, J Y Ma
No abstract text is available yet for this article.
September 24, 2017: Zhonghua Xin Xue Guan Bing za Zhi
https://www.readbyqxmd.com/read/29036504/echocardiographic-left-ventricular-reverse-remodeling%C3%A2-after-18-months-of-antihypertensive-treatment-in-stage-i-hypertension-results-from-the-prever-treatment-study
#6
C Bertoluci, M Foppa, A B S Santos, T V Branchi, S C Fuchs, F D Fuchs
Background: Antihypertensive treatment improves echocardiographic parameters of hypertensive target organ damage in stage II hypertension, but less is known about the effects in stage I hypertension. Methods: In a cohort study nested in the randomized double-blind trial PREVER-treatment, two-dimensional echocardiograms were performed in 110 individuals, aged 54.8 ± 7.9 years-old, with stage I hypertension at baseline and after 18 months of treatment with chlorthalidone/amiloride or losartan...
September 27, 2017: American Journal of Hypertension
https://www.readbyqxmd.com/read/29025576/the-prevalence-correlates-and-impact%C3%A2-on%C3%A2-cardiac-mortality-of-right%C3%A2-ventricular-dysfunction-in-nonischemic%C3%A2-cardiomyopathy
#7
Andreas Pueschner, Pairoj Chattranukulchai, John F Heitner, Dipan J Shah, Brenda Hayes, Wolfgang Rehwald, Michele A Parker, Han W Kim, Robert M Judd, Raymond J Kim, Igor Klem
OBJECTIVES: This study sought to determine the prevalence, correlates, and impact on cardiac mortality of right ventricular (RV) dysfunction in nonischemic cardiomyopathy. BACKGROUND: Current heart failure guidelines place little emphasis on RV assessment due to limited available data on determinants of RV function, mechanisms leading to its failure, and relation to outcomes. METHODS: We prospectively studied 423 patients with cardiac magnetic resonance (CMR)...
October 2017: JACC. Cardiovascular Imaging
https://www.readbyqxmd.com/read/29019615/haemodynamic-profiles-of-children-with-end-stage-heart-failure
#8
Sharon Chen, John C Dykes, Doff B McElhinney, Robert J Gajarski, Andrew Y Shin, Seth A Hollander, Melanie E Everitt, Jack F Price, Ravi R Thiagarajan, Steven J Kindel, Joseph W Rossano, Beth D Kaufman, Lindsay J May, Elizabeth Pruitt, David N Rosenthal, Christopher S Almond
Aims: To evaluate associations between haemodynamic profiles and symptoms, end-organ function and outcome in children listed for heart transplantation. Methods and results: Children <18 years listed for heart transplant between 1993 and 2013 with cardiac catheterization data [pulmonary capillary wedge pressure (PCWP), right atrial pressure (RAP), and cardiac index (CI)] in the Pediatric Heart Transplant Study database were included. Outcomes were New York Heart Association (NYHA)/Ross classification, renal and hepatic dysfunction, and death or clinical deterioration while on waitlist...
October 7, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29018034/a-distinct-cellular-basis-for-early-cardiac-arrhythmias-the-cardinal-manifestation-of-arrhythmogenic-cardiomyopathy-and-the-skin-phenotype-of-cardiocutaneous-syndromes
#9
Jennifer Karmouch, Qiong Q Zhou, Christina Y Miyake, Raffaella Lombardi, Kai Kretzschmar, Marie Bannier-Hélaouët, Hans Clevers, Xander H Wehrens, James T Willerson, Ali J Marian
Rationale: Arrhythmogenic cardiomyopathy (ACM) is caused primarily by mutations in genes encoding desmosome proteins. Ventricular arrhythmias are the cardinal and typically early manifestations, whereas myocardial fibroadiposis is the pathological hallmark. Homozygous DSP (desmoplakin) and JUP (plakoglobin) mutations are responsible for a subset of ACM patients that exhibit cardiac arrhythmias and dysfunction, palmo-planter keratosis, and hair abnormalities (cardiocutaneous syndromes). Objective: To determine phenotypic consequences of deletion of Dsp in a subset of cells common to the heart and skin...
October 10, 2017: Circulation Research
https://www.readbyqxmd.com/read/28993567/reference-intervals-and-allometric-scaling-of-two-dimensional-echocardiographic-measurements-in-150-healthy-cats
#10
Schober Karsten, Savino Stephanie, Yildiz Vedat
The objective of the study was to evaluate the effects of body weight (BW), breed, and sex on two-dimensional (2D) echocardiographic measures, reference ranges, and prediction intervals using allometrically-scaled data of left atrial (LA) and left ventricular (LV) size and LV wall thickness in healthy cats. Study type was retrospective, observational, and clinical cohort. 150 healthy cats were enrolled and 2D echocardiograms analyzed. LA diameter, LV wall thickness, and LV dimension were quantified using three different imaging views...
October 6, 2017: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/28989069/the-role-of-biomarkers-in-dilated-cardiomyopathy-assessment-of-clinical-severity-and-reverse-remodeling
#11
Sandra Amorim, Manuel Campelo, Brenda Moura, Elisabete Martins, João Rodrigues, Isaac Barroso, Margarida Faria, Tiago Guimarães, Filipe Macedo, José Silva-Cardoso, Maria Júlia Maciel
INTRODUCTION: Biomarkers in dilated cardiomyopathy (DCM) reflect various pathobiological processes, including neurohormonal activation, oxidative stress, matrix remodeling, myocyte injury and myocyte stretch. We assessed the role of biomarkers in clinical and echocardiographic parameters and in left ventricular (LV) reverse remodeling (LVRR). METHODS: In this prospective study of 50 DCM patients (28 men, aged 59±10 years) with LV ejection fraction (LVEF) <40%, LVRR was defined as an increase of >10 U in LVEF after optimal medical therapy...
October 5, 2017: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/28984779/two-dimensional-myocardial-deformation-in-coronary-vasospasm-related-takotsubo-cardiomyopathy-a-case-report-of-a-serial-echocardiographic-study
#12
Ming-Jui Hung, Ta Ko, Chung-Yu Liang, Yu-Cheng Kao
RATIONALE: Although transient reduction in the left ventricular ejection fraction is characteristic of Takotsubo cardiomyopathy, little is known about the time-course changes of myocardial deformation in coronary vasospasm-related Takotsubo cardiomyopathy. PATIENT CONCERNS: We retrospectively analyzed the time-course changes in left ventricle, right ventricle, and left atrium strain values in a patient with coronary vasospasm-related Takotsubo cardiomyopathy. We found that not only left ventricular strain but also left atrial strain was abnormal during acute Takotsubo cardiomyopathy due to coronary vasospasm...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28979560/a-case-study-of-likely-wild-type-cardiac-transthyretin-amyloidosis-causing-rapid-deterioration
#13
Thomas Davies, Aarash Saleh, Gerry Coghlan, Carol Whelan, Banwari Agarwal
We present the case of an 88-year-old gentleman who presented to hospital septic with bilateral leg cellulitis, pulmonary oedema and hypotension. He had no history of heart disease but had had bilateral carpal tunnel releases. His condition deteriorated with refractory hypotension in spite of fluid filling, inotropic and vasopressor support. His echocardiogram showed an infiltrative cardiomyopathy with a speckled myocardium, severe concentric left and right ventricular increased wall thickness, diastolic dysfunction, biatrial dilatation and restrictive physiology in keeping with cardiac amyloidosis...
May 2017: J Intensive Care Soc
https://www.readbyqxmd.com/read/28977353/incremental-value-of-right-heart-metrics-and-exercise-performance-to-well-validated-risk-scores-in-dilated-cardiomyopathy
#14
Kegan J Moneghetti, Genevieve Giraldeau, Matthew T Wheeler, Yukari Kobayashi, Bojan Vrtovec, David Boulate, Tatiana Kuznetsova, Ingela Schnittger, Joseph C Wu, Jonathan Myers, Euan Ashley, Francois Haddad
Aims: Risk stratification in heart failure (HF) relies on several established clinical risk scores, however, myocardial deformation, right heart metrics, and exercise performance have not usually been considered. This study sought to assess the incremental value of advanced echocardiographic and cardiopulmonary exercise testing (CPX) parameters to validated risk scores in HF. Methods and results: The Meta-Analysis Global Group in Chronic Heart Failure (MAGGIC) and Metabolic Exercise Test Data Combined with Cardiac and Kidney Indexes (MECKI) scores were applied to 208 ambulatory patients with dilated cardiomyopathy (DCM) who completed echocardiography in conjunction with CPX as part of the Stanford Exercise Testing registry...
July 21, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28977350/e-e-ratio-and-outcome-prediction-in-hypertrophic-cardiomyopathy-the-influence-of-outflow-tract-obstruction
#15
Dai-Yin Lu, Bereketeab Hailesealassie, Ioannis Ventoulis, Hong-Yun Liu, Hsin-Yueh Liang, Iraklis Pozios, Marco Canepa, Susan Phillip, M Roselle Abraham, Theodore Abraham
Aims: Diastolic dysfunction is thought to be an important pathophysiologic component of hypertrophic cardiomyopathy (HCM). However, there are conflicting data on the potential value of the mitral E/e' ratio. We examined whether left ventricular outflow tract (LVOT) obstruction influences the value of E/e' in predicting outcomes in HCM. Methods and results: Patients who met diagnostic criteria for HCM were enrolled. Diastolic function was assessed with complete two-dimensional and Doppler echocardiography...
July 11, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28965168/cardiac-arrhythmias-related-to-sodium-channel-dysfunction
#16
Eleonora Savio-Galimberti, Mariana Argenziano, Charles Antzelevitch
The voltage-gated cardiac sodium channel (Nav1.5) is a mega-complex comprised of a pore-forming α subunit and 4 ancillary β-subunits together with numerous protein partners. Genetic defects in the form of rare variants in one or more sodium channel-related genes can cause a loss- or gain-of-function of sodium channel current (INa) leading to the manifestation of various disease phenotypes, including Brugada syndrome, long QT syndrome, progressive cardiac conduction disease, sick sinus syndrome, multifocal ectopic Purkinje-related premature contractions, and atrial fibrillation...
October 1, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/28965135/chronic-phase-improvements-in-electrocardiographic-and-echocardiographic-manifestations-of-left-ventricular-hypertrophy-after-alcohol-septal-ablation-for-drug-refractory-hypertrophic-obstructive-cardiomyopathy
#17
Junya Matsuda, Mitsunobu Kitamura, Morimasa Takayama, Yoichi Imori, Junsuke Shibuya, Yoshiaki Kubota, Hideto Sangen, Shunichi Nakamura, Hitoshi Takano, Kuniya Asai, Wataru Shimizu
After alcohol septal ablation (ASA), regression of left ventricular hypertrophy (LVH) has been observed in several studies using echocardiography or cardiac magnetic resonance, and favorable changes of myocardial excitation have been expected. However, no studies have focused on the alteration of electrocardiography (ECG) findings after ASA. Therefore, we evaluated serial changes in ECG parameters during the chronic phase after ASA for drug-refractory hypertrophic obstructive cardiomyopathy (HOCM). From 1998 to 2014, we performed 187 ASA procedures in 157 drug-refractory HOCM patients...
September 30, 2017: Heart and Vessels
https://www.readbyqxmd.com/read/28955382/atrial-fibrillation-in-heart-failure-a-therapeutic-challenge-of-our-times
#18
REVIEW
Syeda Atiqa Batul, Rakesh Gopinathannair
Atrial fibrillation (AF) and heart failure (HF) are growing cardiovascular disease epidemics worldwide. There has been an exponential increase in the prevalence of AF and HF correlating with an increased burden of cardiac risk factors and improved survival rates in patients with structural heart disease. AF is associated with adverse prognostic outcomes in HF and is most evident in mild-to-moderate left ventricular (LV) dysfunction where the loss of "atrial kick" translates into poorer quality of life and increased mortality...
September 2017: Korean Circulation Journal
https://www.readbyqxmd.com/read/28955086/twiddlers-syndrome-presenting-as-life-threatening-electrical-storm
#19
Shahrukh Hashmani, Aamir Hameed Khan
A 75-year-old man underwent implantation of a single chamber implantable cardioverter defibrillator (ICD) for primary prevention of his underlying severe non-ischaemic cardiomyopathy. Thirteen months later, he presented to the emergency room(ER) with inappropriate ICD shocks as a result of over sensing of the right ventricular lead and double counting of the right atrial signals. The chest X-ray (CXR) revealed a right ventricular ICD lead displaced into the right atrium with coiling in the pocket. The right ventricular shocking coil was noted at the tricuspid annulus...
October 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28950345/marked-respiratory-related-fluctuations-in-left-ventricular-outflow-tract-gradients-in-hypertrophic-obstructive-cardiomyopathy-an-observational-study
#20
Renuka Jain, Martin Osranek, M Fuad Jan, Lindsey R Kalvin, Susan Olet, Suhail Q Allaqaband, Arshad Jahangir, Bijoy K Khandheria, A Jamil Tajik
Aims: Left ventricular outflow (LVOT) obstruction in patients with hypertrophic cardiomyopathy (HCM) is dynamic and sensitive to many variables that affect left ventricular preload, afterload, and contractility. The haemodynamic effect of normal respiration on LVOT obstruction has not been described. Methods and results: We examined 20 patients with HCM who were noted to have phasic respiratory variation of LVOT obstruction on initial transthoracic 2D echocardiogram and Doppler examination...
September 7, 2017: European Heart Journal Cardiovascular Imaging
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