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Cardiomyopathies

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https://www.readbyqxmd.com/read/28650931/hypertrophic-restrictive-cardiomyopathy-with-apical-thinning-a-peculiar-case-of-genotype-phenotype-correlation
#1
Pierluigi Lesizza, Marco Merlo, Giancarlo Vitrella, Gianfranco Sinagra
: Hypertrophic cardiomyopathy (HCM) is the most common cardiomyopathy, mainly caused by mutations in genes encoding for sarcomere proteins. Even though many mutations have been recognized to be causative of HCM, specific HCM phenotypes can be rarely predicted by the genotype, possibly as a consequence of the presence of still unknown disease-modifying genes [Maron et al. (2013). Lancet 381:242-55]. In this very peculiar case of HCM hypertrophy localized to left ventricle, mid-wall segments coexisted with a restrictive filling pattern and an apical wall thinning mimicking hypoplasia of left ventricle apex...
June 24, 2017: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/28649556/successful-pregnancy-and-delivery-in-a-woman-with-propionic-acidemia-from-the-amish-community
#2
Jessica Scott Schwoerer, Sandra van Calcar, Gregory M Rice, James Deline
Propionic acidemia (PA) is an inborn error of protein metabolism with a variable clinical presentation ranging from neonatal encephalopathy to seemingly asymptomatic individuals who present with cardiomyopathy or sudden death. PA is recognized in the Amish population, often with an early asymptomatic course and eventual cardiac complications. Thus, Amish women with PA may reach reproductive age without clinical sequelae, but are at increased risk for metabolic decompensation during pregnancy, delivery and postpartum period...
September 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28649555/autosomal-dominant-carvajal-plus-syndrome-due-to-the-novel-desmoplakin-mutation-c-1678a%C3%A2-%C3%A2-t-p-ile560phe
#3
Josef Finsterer, Claudia Stöllberger, Eva Wollmann, Susanne Dertinger, Franco Laccone
BACKGROUND: Carvajal syndrome is an autosomal dominant or autosomal recessive disorder, manifesting with dilated cardiomyopathy, woolly hair, and palmoplantar keratoma. Additional manifestations can be occasionally found. Carvajal syndrome may be due to mutations in the desmocollin-2, desmoplakin, or plakophilin-2 gene. METHODS AND RESULTS: We report a family with Carvajal syndrome which additionally presented with hypoacusis, noncompaction, recurrent pharyngeal infections, oligodontia, and recurrent diarrhoea...
September 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28648664/high-dose-ivig-successfully-reduces-high-rhgaa-igg-antibody-titers-in-a-crim-negative-infantile-pompe-disease-patient
#4
Mugdha Rairikar, Zoheb B Kazi, Ankit Desai, Crista Walters, Amy Rosenberg, Priya S Kishnani
Alglucosidase alfa (rhGAA) has altered the course of an otherwise fatal outcome in classic infantile Pompe disease (IPD), which presents with cardiomyopathy and severe musculoskeletal involvement. However, the response to therapy is determined by several factors including the development of high and sustained antibody titers (HSAT) to rhGAA. Cross-reactive immunologic material (CRIM) negative patients are at the highest risk for development of HSAT. Immune tolerance induction (ITI) with methotrexate, rituximab, and intravenous immunoglobulin (IVIG) has been largely successful in preventing the immune response and in achieving tolerance when done in conjunction with enzyme replacement therapy (ERT) initiation...
May 18, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28648627/myofilament-protein-dynamics-modulate-ead-formation-in-human-hypertrophic-cardiomyopathy
#5
REVIEW
Melanie A Zile, Natalia A Trayanova
Patients with hypertrophic cardiomyopathy (HCM), a disease associated with sarcomeric protein mutations, often suffer from sudden cardiac death (SCD) resulting from arrhythmia. In order to advance SCD prevention strategies, our understanding of how sarcomeric mutations in HCM patients contribute to enhanced arrhythmogenesis needs to be improved. Early afterdepolarizations (EADs) are an important mechanism underlying arrhythmias associated with HCM-SCD. Although the ionic mechanisms underlying EADs have been studied in general, whether myofilament protein dynamics mechanisms also underlie EADs remains unknown...
June 22, 2017: Progress in Biophysics and Molecular Biology
https://www.readbyqxmd.com/read/28648424/late-onset-dynamic-outflow-tract-gradient-in-the-setting-of-tako-tsubo-cardiomyopathy-an-interesting-phenomenon-with-potential-implications
#6
Kenan Yalta, Ertan Yetkin
In clinical practice, dynamic left ventricular outflow tract obstruction (LVOTO) in the setting of tako-tsubo cardiomyopathy (TTC) has been regarded as an early-onset complication typically emerging in accordance with wall motion abnormalities. However, dynamic LVOTO has, very rarely, been reported as a late-onset phenomenon in the setting of TTC as well (arising in the late stage or after recovery). Accordingly, the present paper aims to highlight clinical relevance and potential implications of late-onset LVOTO in the setting of TTC...
May 2017: Indian Heart Journal
https://www.readbyqxmd.com/read/28647828/3d-printing-of-severe-hypertrophic-cardiomyopathy-in-a-child-with-rasopathy
#7
N F Johnston, T Prendiville, C J McMahon
We describe the use of 3D printing in conjunction with echocardiography in assessing hypertrophic cardiomyopathy in a boy with Rasopathy. 3D printing may supplement conventional imaging including echocardiography and MRI in the evaluation of hypertrophic cardiomyopathy.
June 25, 2017: Irish Journal of Medical Science
https://www.readbyqxmd.com/read/28647415/restrictive-arteriopathy-in-late-onset-pompe-disease-case-report-and-review-of-the-literature
#8
Konark Malhotra, David C Carrington, David S Liebeskind
Late-onset Pompe disease (LOPD) is an adult type of classical Pompe disease and presents without cardiomyopathy. Neuroimaging in LOPD is typically limited to posterior circulation and involves dilative arteriopathy, especially dolichoectasia and intracranial aneurysms. We report an interesting case of an established diagnosis of asymptomatic LOPD in a young man with a restrictive-variant pattern in posterior vasculature. We discuss the clinical presentation, neuroimaging, existing literature, and prognosis in vascular variants of LOPD...
June 21, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28647373/salusin-%C3%AE-mediates-high-glucose-induced-endothelial-injury-via-disruption-of-ampk-signaling-pathway
#9
Xuexue Zhu, Yuetao Zhou, Weiwei Cai, Haijian Sun, Liying Qiu
The dysregulated proliferation, migration, apoptosis and angiogenesis of endothelial cells are involved in diabetic endothelial dysfunction. The circulating salusin-β levels were increased in diabetic patients, and salusin-β contributes to diabetic cardiomyopathy in rats. However, the roles of salusin-β in diabetes mellitus-induced endothelial dysfunction are not fully understood. Herein, we demonstrated the increased expressions of salusin-β in human umbilical vein endothelial cells (HUVECs) cultured in HG medium...
June 21, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28647343/alcoholic-cardiomyopathy-what-is-known-and-what-is-not-known
#10
REVIEW
Antonio Mirijello, Claudia Tarli, Gabriele Angelo Vassallo, Luisa Sestito, Mariangela Antonelli, Cristina d'Angelo, Anna Ferrulli, Salvatore De Cosmo, Antonio Gasbarrini, Giovanni Addolorato
Excessive alcohol consumption represents one of the main causes of non-ischemic dilated cardiomyopathy. Alcoholic cardiomyopathy is characterized by dilation and impaired contraction of one or both myocardial ventricles. It represents the final effect of alcohol-induced toxicity to the heart. Several pathophysiological mechanisms have been proposed at the basis of alcohol-induced damage, most of which are still object of research. Unfortunately, symptoms of alcoholic cardiomyopathy are not specific and common to other forms of heart failure and appear when dilatation and systolic dysfunction are consolidated...
June 21, 2017: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/28647113/feline-congestive-heart-failure-current-diagnosis-and-management
#11
REVIEW
Etienne Côté
Congestive heart failure (CHF) is a well-known disorder in feline practice, having been recognized as the most common clinical syndrome in cats with hypertrophic cardiomyopathy, for example. This article identifies the reasons that an accurate diagnosis of CHF is important and the means by which to obtain one; pharmacologic and nonpharmacologic methods for controlling signs of CHF; and recommendations for follow-up evaluations, monitoring, and troubleshooting.
June 21, 2017: Veterinary Clinics of North America. Small Animal Practice
https://www.readbyqxmd.com/read/28647112/arrhythmogenic-right-ventricular-cardiomyopathy-in-the-boxer-dog-an-update
#12
REVIEW
Kathryn M Meurs
Arrhythmogenic right ventricular cardiomyopathy is an inheritable form of myocardial disease characterized most commonly by ventricular tachycardias, syncope, and sometimes systolic dysfunction and heart failure. A genetic mutation in the striatin gene has been identified in many affected dogs. Dogs with only one copy of the mutation (heterozygous) have a variable prognosis with many dogs remaining asymptomatic or successfully managed on antiarrhythmic drugs for years. Dogs that are homozygous for the mutation seem to have a worse prognosis...
June 21, 2017: Veterinary Clinics of North America. Small Animal Practice
https://www.readbyqxmd.com/read/28646538/a-novel-attr-l32v-mutation-causes-familial-amyloid-polyneuropathy-in-a-bolivian-family
#13
P L Martínez-Ulloa, M Vallejo, I Corral, N García-Barragán, A Alcazar, Emma Martínez-Alonso, J Martínez-Poles, H Pian, A Jiménez-Escrig
We report a new transthyretin (ATTR) gene c.272C>G mutation and variant protein, p.Leu32Val, in a kindred of Bolivian origin with a rapid progressive peripheral neuropathy and cardiomyopathy. Three individuals from a kindred with peripheral nerve and cardiac amyloidosis were examined. Analysis of the TTR gene was performed by Sanger direct sequencing. Neuropathologic examination was obtained on the index patient with mass spectrometry study of the ATTR deposition. Direct DNA sequence analysis of exons 2, 3 and 4 of the TTR gene demonstrated a c...
June 24, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28646029/editorial-focus-on-ms-h-00093-2017r1-are-the-epoxyeicosatrienoic-acids-eets-at-the-heart-of-the-b-eet-in-obesity-induced-cardiomyopathy
#14
Kevin C Dellsperger
This editorial focus discusses the accompanying paper in this issue as well as describing potential focus areas for future study in treating obesity induced cardiomyopathy.
June 23, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28646025/remodeling-of-repolarization-and-arrhythmia-susceptibility-in-a-myosin-binding-protein-c-knockout-mouse-model
#15
Amir Toib, Chen Zhang, Giulia Borghetti, Xiaoxiao Zhang, Markus Wallner, Yijun Yang, Constantine Troupes, Hajime Kubo, Thomas Sharp, Eric Feldsott, Remus M Berretta, Neil Zalavadia, Danielle Trappanese, Shavonn Harper, Polina Gross, Xiongwen Chen, Sadia Mohsin, Steven Houser
Hypertrophic cardiomyopathy (HCM) is one of the most common genetic cardiac diseases and amongst the leading causes of sudden cardiac death (SCD) in the young. The cellular mechanisms leading to SCD in HCM are not well known. Prolongation of the action potential duration (APD) is a common feature predisposing hypertrophied hearts to SCD. Previous studies have explored the roles of inward Na(+) and Ca(2+) in the development of HCM, but the role of repolarizing K(+) currents have not been defined. The objective of this study was to characterize the arrhythmogenic phenotype and cellular electrophysiological properties of mice with HCM, induced by Myosin Binding Protein C (MyBPC) Knockout (KO) and to test the hypothesis that remodeling of repolarizing K(+) currents cause APD prolongation in MyBPC KO myocytes...
June 23, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28645928/molecular-mechanisms-in-cardiomyopathy
#16
REVIEW
Keith Dadson, Ludger Hauck, Filio Billia
Cardiomyopathies represent a heterogeneous group of diseases that negatively affect heart function. Primary cardiomyopathies specifically target the myocardium, and may arise from genetic [hypertrophic cardiomyopathy (HCM), arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D), mitochondrial cardiomyopathy] or genetic and acquired [dilated cardiomyopathy (DCM), restrictive cardiomyopathy (RCM)] etiology. Modern genomics has identified mutations that are common in these populations, while in vitro and in vivo experimentation with these mutations have provided invaluable insight into the molecular mechanisms native to these diseases...
July 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28645472/bradycardia-syncope-and-left-ventricular-noncompaction-cardiomyopathy
#17
D Luke Glancy, Frederick R Helmcke, Allen P Hoang
A 55-year-old man with syncopal episodes was found to have sinus bradycardia at a rate of 37 beats/min, an episode of nonsustained ventricular tachycardia, and left ventricular noncompaction cardiomyopathy. After placement of a dual-chamber cardioverter defibrillator 4 years ago, he has had no further syncopal episodes, and there have been no defibrillator shocks.
May 30, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28645469/transcatheter-mitral-valve-repair-with-mitraclip-for-symptomatic-functional-mitral-valve-regurgitation
#18
REVIEW
Rodrigo Mendirichaga, Vikas Singh, Vanessa Blumer, Manuel Rivera, Alex P Rodriguez, Mauricio G Cohen, William W O'Neill, Sammy Elmariah
Transcatheter edge-to-edge mitral valve repair (TMVr) with MitraClip has proved to be safe and effective for high-risk surgical patients with severe symptomatic degenerative mitral regurgitation. There is paucity of data regarding its use in functional mitral regurgitation (FMR). The objective of this study was to evaluate the use of MitraClip in patients with symptomatic moderate or severe FMR and a high surgical risk. Medical libraries were systematically searched for studies assessing the use of MitraClip for patients with symptomatic moderate or severe FMR and a high surgical risk...
May 30, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28645460/associations-between-timing-of-corticosteroid-treatment-initiation-and-clinical-outcomes-in-duchenne-muscular-dystrophy
#19
Sunkyung Kim, Yong Zhu, Paul A Romitti, Deborah J Fox, Daniel W Sheehan, Rodolfo Valdez, Dennis Matthews, Brent J Barber
The long-term efficacy of corticosteroid treatment and timing of treatment initiation among Duchenne muscular dystrophy (DMD) patients is not well-understood. We used data from a longitudinal, population-based DMD surveillance program to examine associations between timing of treatment initiation (early childhood [before or at age 5 years], late childhood [after age 5 years], and naïve [not treated]) and five clinical outcomes (age at loss of ambulation; ages at onset of cardiomyopathy, scoliosis, and first fracture; and pulmonary function)...
June 5, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28645170/non-compaction-cardiomyopathy-and-incessant-supraventricular-tachycardia-an-unusual-first-presentation
#20
Cosima Jahnke, Ingo Paetsch, Gerhard Hindricks, Sergio Richter
No abstract text is available yet for this article.
June 22, 2017: European Heart Journal
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