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hypertrophic cardiomyopathy

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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/28648627/myofilament-protein-dynamics-modulate-ead-formation-in-human-hypertrophic-cardiomyopathy
#2
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/28647828/3d-printing-of-severe-hypertrophic-cardiomyopathy-in-a-child-with-rasopathy
#3
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/28647113/feline-congestive-heart-failure-current-diagnosis-and-management
#4
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/28646025/remodeling-of-repolarization-and-arrhythmia-susceptibility-in-a-myosin-binding-protein-c-knockout-mouse-model
#5
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
#6
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/28642712/investigations-into-the-sarcomeric-protein-and-ca-2-regulation-abnormalities-underlying-hypertrophic-cardiomyopathy-in-cats-felix-catus
#7
Andrew E Messer, Jasmine Chan, Alex Daley, O'Neal Copeland, Steven B Marston, David J Connolly
Hypertrophic cardiomyopathy (HCM) is the most common single gene inherited cardiomyopathy. In cats (Felix catus) HCM is even more prevalent and affects 16% of the outbred population and up to 26% in pedigree breeds such as Maine Coon and Ragdoll. Homozygous MYBPC3 mutations have been identified in these breeds but the mutations in other cats are unknown. At the clinical and physiological level feline HCM is closely analogous to human HCM but little is known about the primary causative mechanism. Most identified HCM causing mutations are in the genes coding for proteins of the sarcomere...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28641398/pregnancy-in-hypertrophic-cardiomyopathy
#8
Anjali Tiku Owens
No abstract text is available yet for this article.
June 21, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28640247/genetic-testing-impacts-the-utility-of-prospective-familial-screening-in-hypertrophic-cardiomyopathy-through-identification-of-a-nonfamilial-subgroup
#9
Carol Ko, Patricia Arscott, Maryann Concannon, Sara Saberi, Sharlene M Day, Beverly M Yashar, Adam S Helms
PurposeHypertrophic cardiomyopathy (HCM) is considered a hereditary autosomal dominant condition, but genetic testing is positive in only half of patients. In patients with negative genetic tests, the inheritance pattern and utility of family screening are unclear.MethodsSubjects with HCM were prospectively enrolled in a registry. A survey at a median follow-up of 4 years determined the yield of family screening.ResultsThe outcome of cardiac screening on 267 family members was reported by 120 survey respondents...
June 22, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28639774/-discovery-of-left-ventricular-hypertrophy-during-adult-echocardiography
#10
Nicolas B Dayal, Hajo Müller
Left ventricular hypertrophy is a common finding during echocardiography. A precise evaluation of the left ventricular wall thickness, ventricular mass and distribution of hypertrophy is crucial both for diagnostic workup, follow-up and for prognostic evaluation. The differential diagnosis of left ventricular hypertrophy includes hypertrophic cardiomyopathies, hypertrophy secondary to abnormal left ventricular filling conditions, hypertrophy linked to intense physical training and the isolated basal septal hypertrophy of the elderly...
May 24, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28639223/imaging-of-left-ventricular-hypertrophy-a-practical-utility-for-differential-diagnosis-and-assessment-of-disease-severity
#11
REVIEW
Toru Kubo, Hiroaki Kitaoka
PURPOSE OF REVIEW: Left ventricular hypertrophy (LVH) is often encountered in clinical practice, and it is a risk factor for cardiac mortality and morbidity. Determination of the etiology and disease severity is important for the management of patients with LVH. The aim of this review is to show the remarkable progress in cardiac imaging and its importance in clinical practice. RECENT FINDINGS: This review focuses on clinical features and characteristic cardiac imaging in LVH caused by various diseases including hypertension, aortic valve stenosis, hypertrophic cardiomyopathy, and secondary cardiomyopathies...
August 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28638577/a-rare-case-of-apical-hypertrophic-cardiomyopathy-ahcm
#12
Seyed Abbas Mirabbasi, Koroush Khalighi, Suresh Mukkamala, Archana Kodali
Apical hypertrophic cardiomyopathy is a rare form of hypertrophic cardiomyopathy that involves thickening of the distal portion of the left ventricular wall. Most commonly seen in the Japan, with a prevalence rate of about 15% of all HCM patient, its incidence in the USA is approximately 3% of HCM cases. We report a case of a 46-year-old woman with history of hypertension who presented to emergency department with worsening dyspnea and orthopnea with features of left ventricular hypertrophy (LVH) and diffuse large T-wave inversions in the lateral leads on a 12-lead ECG...
March 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/28638575/danon-disease-for-the-cardiologist-case-report-and-review-of-the-literature
#13
Ryan S D'souza, Luisa Mestroni, Matthew R G Taylor
Danon disease is a rare, X-linked dominant genetic disorder that is caused by defects in the lysosome-associated membrane protein 2 (LAMP2) gene. It manifests predominantly in young males with a classic triad of cardiomyopathy, skeletal myopathy, and intellectual disability. Death from cardiac disease is the ultimate cause of demise in many patients if left untreated. Given the rarity of the condition, the natural history is poorly understood. Here, we present a case report on a 14-year-old Hispanic boy with Danon disease, highlighting major clinical events and diagnostic study findings over a six-year period from age of symptom onset to age of death...
March 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/28636508/how-to-perform-stress-exercise-echocardiography-in-hypertrophic-cardiomyopathy
#14
Patricia Reant, Stephane Lafitte, Amelie Reynaud
No abstract text is available yet for this article.
March 21, 2017: Acta Cardiologica
https://www.readbyqxmd.com/read/28630914/deregulated-ca-2-cycling-underlies-the-development-of-arrhythmia-and-heart-disease-due-to-mutant-obscurin
#15
Li-Yen R Hu, Maegen A Ackermann, Peter A Hecker, Benjamin L Prosser, Brendan King, Kelly A O'Connell, Alyssa Grogan, Logan C Meyer, Christopher E Berndsen, Nathan T Wright, W Jonathan Lederer, Aikaterini Kontrogianni-Konstantopoulos
Obscurins are cytoskeletal proteins with structural and regulatory roles encoded by OBSCN. Mutations in OBSCN are associated with the development of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). Specifically, the R4344Q mutation present in immunoglobulin domain 58 (Ig58) was the first to be linked with the development of HCM. To assess the effects of R4344Q in vivo, we generated the respective knock-in mouse model. Mutant obscurins are expressed and incorporated normally into sarcomeres...
June 2017: Science Advances
https://www.readbyqxmd.com/read/28630369/alpk3-gene-mutation-in-a-patient-with-congenital-cardiomyopathy-and-dysmorphic-features
#16
Ahmet Okay Cağlayan, Rabia Gonul Sezer, Hande Kaymakcalan, Ege Ulgen, Taner Yavuz, Jacob F Baranoski, Abdulkadir Bozaykut, Akdes Serin Harmanci, Yalim Yalcin, Mark W Youngblood, Katsuhito Yasuno, Kaya Bilguvar, Murat Gunel
Primary cardiomyopathy is one of the most common inherited cardiac diseases and harbors significant phenotypic and genetic heterogeneity. Because of this, genetic testing has become standard in treatment of this disease group. Indeed, in recent years, next-generation DNA sequencing has found broad applications in medicine, both as a routine diagnostic tool for genetic disorders and also as a high-throughput discovery tool for identifying novel disease causing genes. We describe a male infant with primary dilated cardiomyopathy that was diagnosed using intrauterine echocardiography, and found to progress to hypertrophic cardiomyopathy after birth...
June 19, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28627787/psychiatric-and-cognitive-characteristics-of-individuals-with-danon-disease-lamp2-gene-mutation
#17
Maya Yardeni, Omri Weisman, Hanna Mandel, Ronnie Weinberger, Giovanni Quarta, Joel Salazar-Mendiguchía, Pablo Garcia-Pavia, Maria José Lobato-Rodríguez, Lourdes Fajardo Simon, Freimark Dov, Michael Arad, Doron Gothelf
Danon disease (DD) is a rare X-linked disorder caused by loss-of-function mutations in the LAMP2 gene, which encodes lysosome-associated membrane protein. It is characterized by the triad of hypertrophic cardiomyopathy, myopathy, and intellectual disability. Whereas the molecular and pathophysiological mechanisms underlying this disorder have been previously reported and continue to be explored, the cognitive deficits and psychiatric comorbidities manifested in DD remain an understudied topic. We systematically assessed cognitive abilities and psychiatric comorbidities in 13 males and females...
June 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28626079/editorial-focus-on-h-00813-2016r1-prkag2-gene-and-hypertrophic-cardiomyopathy-an-energetically-imbalanced-relationship
#18
Martina Calore
No abstract available.
June 16, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28625400/successful-treatment-of-ventricular-fibrillation-storm-triggered-by-short-long-short-sequence-time-to-avoid-managed-ventricular-pacing
#19
Hilmi Alnsasra, Yuval Konstantino, Sergiy Bereza, Moti Haim
Sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HCM) is caused by ventricular tachyarrhythmia that can be effectively treated by implantable cardioverter defibrillator (ICD) therapy. We report of a 28-year-old man with HCM and a dual chamber ICD, originally implanted for primary prevention of SCD, (programmed to AAI(R)-DDD(R); managed ventricular pacing (MVP) mode, Medtronic Inc. St Paul, MN USA). He presented with recurrent ICD shocks due to ventricular fibrillation (VF) despite antiarrhythmic therapy...
June 8, 2017: Journal of Electrocardiology
https://www.readbyqxmd.com/read/28624663/role-of-exercise-electrocardiogram-to-screen-for-t-wave-oversensing-after-implantation-of-subcutaneous-implantable-cardioverter-defibrillator
#20
Muhammad R Afzal, Christopher Evenson, Auroa Badin, Dilesh Patel, Hemant Godara, Michael Essandoh, Toshimasa Okabe, Jaret Tyler, Mahmoud Houmsse, Ralph Augostini, John Hummel, Steven Kalbfleisch, Emile G Daoud, Raul Weiss
BACKGROUND: During early experience with subcutaneous implantable cardioverter defibrillator (S-ICD(TM)), several patients had inappropriate shocks from TWOS during exercise. This prompted some operators to perform routine treadmill exercise test after implantation of S-ICD to screen for TWOS. Meanwhile, improvements have been made in the detection algorithms by the manufacturer. OBJECTIVE: To assess whether routine treadmill exercise post S-ICD(TM) implantation is warranted...
June 14, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
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