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Hypertrophic cardiomyopathies

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https://www.readbyqxmd.com/read/28097232/vps34-regulates-myofibril-proteostasis-to-prevent-hypertrophic-cardiomyopathy
#1
Hirotaka Kimura, Satoshi Eguchi, Junko Sasaki, Keiji Kuba, Hiroki Nakanishi, Shunsuke Takasuga, Masakazu Yamazaki, Akiteru Goto, Hiroyuki Watanabe, Hiroshi Itoh, Yumiko Imai, Akira Suzuki, Noboru Mizushima, Takehiko Sasaki
Hypertrophic cardiomyopathy (HCM) is a common heart disease with a prevalence of 1 in 500 in the general population. Several mutations in genes encoding cardiac proteins have been found in HCM patients, but these changes do not predict occurrence or prognosis and the molecular mechanisms underlying HCM remain largely elusive. Here we show that cardiac expression of vacuolar protein sorting 34 (Vps34) is reduced in a subset of HCM patients. In a mouse model, muscle-specific loss of Vps34 led to HCM-like manifestations and sudden death...
January 12, 2017: JCI Insight
https://www.readbyqxmd.com/read/28096824/extended-myectomy-in-the-treatment-of-patients-with-hypertrophic-obstructive-cardiomyopathy
#2
Mateusz Kuć, Piotr Kołsut, Jacek Różański, Maciej Dąbrowski, Mariusz Kłopotowski, Magda Kumor, Mirosław Kowalski, Natalia Kopyłowska, Jarosław Kuriata, Mariusz Kuśmierczyk
INTRODUCTION: Partial resection of the septal muscle is a well-established and effective method of surgical treatment for patients with hypertrophic obstructive cardiomyopathy (HOCM). The procedure is characterized by a low operative mortality rate and long-term clinical improvement that has been confirmed in numerous publications. Mitral insufficiency in patients with HOCM is mostly functional due to the effect of systolic anterior motion (SAM). AIM: To present the early results of surgical treatment provided to HOCM patients and to compare the effectiveness of two surgical procedures: isolated myectomy and myectomy combined with mitral valve replacement...
December 2016: Kardiochirurgia i Torakochirurgia Polska, Polish Journal of Cardio-Thoracic Surgery
https://www.readbyqxmd.com/read/28095774/multiple-focal-and-macroreentrant-left-atrial-tachycardias-originating-from-a-spontaneous-scar-at-the-contiguous-aorta-left-atrium-area-in-a-patient-with-hypertrophic-cardiomyopathy-a-case-report
#3
Kyoichiro Yazaki, Yoichi Ajiro, Fumiaki Mori, Masahiro Watanabe, Kei Tsukamoto, Takashi Saito, Keiko Mizobuchi, Kazunori Iwade
BACKGROUND: Spontaneous scar-related left atrial tachycardia (AT) is a rare arrhythmia. We describe a patient with hypertrophic cardiomyopathy (HCM) who developed multiple, both focal and macroreentrant left ATs associated with a spontaneous scar located at the aorta-left atrium (LA) contiguous area. CASE PRESENTATION: A 65-year-old man with HCM complained of palpitations. Twelve-lead electrocardiogram showed narrow QRS tachycardia with 2:1 atrioventricular conduction...
January 17, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/28095388/the-use-of-mitraclip-for-symptomatic-patients-with-hypertrophic-obstructive-cardiomyopathy
#4
Felix Thomas, Florian Rader, Robert J Siegel
OBJECTIVES: Current nonpharmacological therapies for symptomatic patients with hypertrophic obstructive cardiomyopathy (HOCM), including septal myectomy and alcohol septal ablation (ASA), carry significant risks for serious cardiac conduction abnormalities. We present a review of the currently available published data regarding the novel use of the relatively low-risk MitraClip® system in the treatment of symptomatic patients. METHODS: Data were collected from 4 separate studies on the use of the MitraClip on 15 symptomatic HOCM patients with systolic anterior motion (SAM) of the mitral valve apparatus...
January 18, 2017: Cardiology
https://www.readbyqxmd.com/read/28092607/proanp-as-a-screening-biomarker-for-hypertrophic-cardiomyopathy-in-maine-coon-cats
#5
M Parzeniecka-Jaworska, M Garncarz, W Kluciński
: The aim of this study was to determine if atrial natriuretic peptide can be used as an early screening tool for hypertrophic cardiomyopathy in Maine coon cats. ANIMALS: The study was performed in 43 Maine coon cats of both sexes, aged 11 to 92 months. Clinical and echocardiographic examinations were done and proANP serum concentrations were measured every three months over a period of one year (each cat had a total of five examinations). Cats were divided into 3 groups based on echocardiographic results: group 1 - healthy cats, group 2 - cats with unequivocal hypertrophic cardiomyopathy results, group 3 - cats with HCM...
December 1, 2016: Polish Journal of Veterinary Sciences
https://www.readbyqxmd.com/read/28090637/diltiazem-prevents-stress-induced-contractile-deficits-in-cardiomyocytes-but-does-not-reverse-the-cardiomyopathy-phenotype-in-mybpc3-knock-in-mice
#6
Frederik Flenner, Birgit Geertz, Silke Reischmann-Düsener, Florian Weinberger, Thomas Eschenhagen, Lucie Carrier, Felix W Friedrich
Left ventricular hypertrophy, diastolic dysfunction and fibrosis are main features of hypertrophic cardiomyopathy (HCM). Guidelines recommend β-adrenoceptor or Ca(2+) channel antagonists as pharmacological treatment. The Ca(2+) channel blocker diltiazem recently showed promising beneficial effects in pre-clinical HCM, particularly in patients carrying MYBPC3 mutations. In the present study we evaluated whether diltiazem could ameliorate or reverse the disease phenotype in cells and in vivo in Mybpc3-targeted knock-in (KI) mouse model of HCM...
January 15, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28090261/fabry-disease-presenting-with-hypertrophic-cardiomyopathy-and-tricuspid-regurgitation
#7
Sang-Cheol Cho, Han-Wook Yoo, Jae Won Lee, Jeong Yoon Jang, Ran Heo, Jong-Min Song
A 71-year-old female who was diagnosed with nonobstructive hypertrophic cardiomyopathy since 1999 presented with dyspnea and severe edema on both legs. For the management of her symptom, cardiac surgery including tricuspid annuloplasty, Maze operation and right atrial reduction plasty was performed. During follow-up after cardiac surgery, a plasma α-galactosidase activity was checked for the screening of Fabry disease and the result was around lower normal limit. DNA analysis was implemented for confirmation and it revealed a heterozygote α-galactosidase mutation at exon 6 [c...
December 2016: Journal of Cardiovascular Ultrasound
https://www.readbyqxmd.com/read/28089740/early-remodeling-of-repolarizing-k-currents-in-the-%C3%AE-mhc-403-mouse-model-of-familial-hypertrophic-cardiomyopathy
#8
Rocco Hueneke, Adam Adenwala, Rebecca L Mellor, Jonathan G Seidman, Christine E Seidman, Jeanne M Nerbonne
Familial hypertrophic cardiomyopathy (HCM), linked to mutations in myosin, myosin-binding proteins and other sarcolemmal proteins, is associated with increased risk of life threatening ventricular arrhythmias, and a number of animal models have been developed to facilitate analysis of disease progression and mechanisms. In the experiments here, we use the αMHC(403/+) mouse line in which one αMHC allele harbors a common HCM mutation (in βMHC, Arg403 Gln). Here, we demonstrate marked prolongation of QT intervals in young adult (10-12week) male αMHC(403/+) mice, well in advance of the onset of measurable left ventricular hypertrophy...
January 12, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28088328/altered-myocyte-contractility-and-calcium-homeostasis-in-alpha-myosin-heavy-chain-point-mutations-linked-to-familial-dilated-cardiomyopathy
#9
Matthew Klos, Lakshmi Mundada, Indroneal Banerjee, Sherry Morgenstern, Stephanie Myers, Michael Leone, Mark Kleid, Todd Herron, Eric Devaney
Mutations in the human cardiac motor protein beta-myosin heavy chain (βMHC) have been long recognized as a cause of familial hypertrophic cardiomyopathy. Recently, mutations (P830L and A1004S) in the less abundant but faster isoform alpha-myosin heavy chain (αMHC) have been linked to dilated cardiomyopathy (DCM). In this study, we sought to determine the cellular contractile phenotype associated with these point mutations. Ventricular myocytes were isolated from 2 month male Sprague Dawley rats. Cells were cultured in M199 media and infected with recombinant adenovirus containing the P830L or the A1004S mutant human αMHC at a MOI of 500 for 18 h...
January 11, 2017: Archives of Biochemistry and Biophysics
https://www.readbyqxmd.com/read/28077817/prognostic-significance-of-non-dilated-left-ventricular-size-and-mitral-regurgitation-in-patients-with-dilated-phase-of-hypertrophic-cardiomyopathy
#10
Toru Kubo, Yuichi Baba, Takayoshi Hirota, Katsutoshi Tanioka, Naohito Yamasaki, Yoshinori L Doi, Hiroaki Kitaoka
Although a subtype of hypertrophic cardiomyopathy (HCM), dilated phase of HCM (D-HCM) characterized by left ventricular (LV) systolic dysfunction, has been reported to have a poor prognosis, some patients with D-HCM survive for a relatively long period. The degree of LV dilatation and functional mitral regurgitation (MR) are generally thought to be important predictors of poor prognosis in patients with LV systolic dysfunction. However, there is little information available on the relations among LV size, presence of significant MR, and prognosis in D-HCM patients...
January 11, 2017: International Heart Journal
https://www.readbyqxmd.com/read/28073660/effectiveness-of-subcutaneous-implantable-cardioverter-defibrillator-testing-in-patients-with-hypertrophic-cardiomyopathy
#11
Niccoló Maurizi, Ilaria Tanini, Iacopo Olivotto, Ernesto Amendola, Giuseppe Limongelli, Maria Angela Losi, Giuseppe Allocca, Giovanni Battista Perego, Paolo Pieragnoli, Giuseppe Ricciardi, Paolo De Filippo, Paola Ferrari, Giovanni Quarta, Stefano Viani, Antonio Rapacciuolo, Maria Grazia Bongiorni, Franco Cecchi
BACKGROUND: Subcutaneous ICD (S-ICD) is a promising option for Hypertrophic Cardiomyopathy (HCM) patients at risk of Sudden Cardiac Death (SCD). However, its effectiveness in terminating ventricular arrhythmias in HCM is yet unresolved. METHODS: Consecutive HCM patients referred for S-ICD implantation were prospectively enrolled. Patients underwent one or two attempts of VF induction by the programmer. Successful conversion was defined as any 65J shock that terminated VF (not requiring rescue shocks)...
January 4, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28073646/hypertrophic-cardiomyopathy-without-ventricular-hypertrophy-usefulness-of-genetic-and-pathological-study-in-preventing-sudden-death
#12
Federico Segura-Villalobos, Ana Isabel Hernández-Guerra, Fernando Wanguemert-Pérez, Juan Carlos Rodríguez-Pérez, Haridian Mendoza-Lemes, Roberto Barriales-Villa
No abstract text is available yet for this article.
January 7, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28072930/left-ventricular-outflow-tract-obstruction-be-prepared
#13
J S Evans, S J Huang, A S McLean, M Nalos
The current trend to treat hypotension in critically ill patients is to place a greater emphasis on inotropic support and less on fluid resuscitation in order to limit the potential harm from fluid overload. This combination may trigger left ventricular outflow tract obstruction (LVOTO) in susceptible patients. Although LVOTO is classically described in patients with hypertrophic cardiomyopathy it has been reported in other conditions including septic shock, apical ballooning syndrome, myocardial infarction, respiratory failure, and post valvular surgery...
January 2017: Anaesthesia and Intensive Care
https://www.readbyqxmd.com/read/28070839/-1-h-and-31-p-myocardial-magnetic-resonance-spectroscopy-in-non-obstructive-hypertrophic-cardiomyopathy-patients-and-competitive-athletes
#14
Francesco Secchi, Giovanni Di Leo, Marcello Petrini, Riccardo Spairani, Marco Alì, Marco Guazzi, Francesco Sardanelli
PURPOSE: The clinical differentiation between athlete's heart and mild forms of non-obstructive hypertrophic cardiomyopathy (HCM) is crucial. We hypothesized that differences do exist between the myocardial metabolism of patients with non-obstructive HCM and competitive athletes (CAs). Our aim was to evaluate myocardial metabolism with (31)P-MRS and (1)H-MRS in HCM patients and CAs. MATERIALS AND METHODS: After Ethics Committee approval, 15 CAs and 7 HCM patients were prospectively enrolled...
January 9, 2017: La Radiologia Medica
https://www.readbyqxmd.com/read/28070495/an-atypical-presentation-of-acad9-deficiency-diagnosis-by-whole-exome-sequencing-broadens-the-phenotypic-spectrum-and-alters-treatment-approach
#15
H K Aintablian, V Narayanan, N Belnap, K Ramsey, T A Grebe
Acyl-CoA dehydrogenase 9 (ACAD9), linked to chromosome 3q21.3, is one of a family of multimeric mitochondrial flavoenzymes that catalyze the degradation of fatty acyl-CoA from the carnitine shuttle via β-oxidation (He et al. 2007). ACAD9, specifically, is implicated in the processing of palmitoyl-CoA and long-chain unsaturated substrates, but unlike other acyl-CoA dehydrogenases (ACADs), it has a significant role in mitochondrial complex I assembly (Nouws et al. 2010 & 2014). Mutations in this enzyme typically cause mitochondrial complex I deficiency, as well as a mild defect in long chain fatty acid metabolism (Haack et al...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28070248/childhood-cardiomyopathies-a-study-in-tertiary-care-hospital-in-upper-egypt
#16
Mohamed Abd Elaal Bakeet, Montaser Mohamed Mohamed, Ahmed Ahmed Allam, Rania Gamal
INTRODUCTION: Cardiomyopathy (CMP) is defined by the World Health Organization (WHO) as a disease of the myocardium associated with cardiac dysfunction. An understanding of CMP is very important, as it is a common cause of heart failure in children, and the most common indication for heart transplantation in children older than one year, but data on CMP in Egypt are scarce. The aim of this study was to determine the number, risk factors, clinical presentation, complications and outcome of different types of childhood cardiomyopathies in Sohag University Hospital...
November 2016: Electronic Physician
https://www.readbyqxmd.com/read/28069158/systolic-myocardial-volume-gain-in-dilated-hypertrophied-and-normal-heart-cmr-study
#17
Ł Mazurkiewicz, E Orłowska-Baranowska, J Petryka, M Śpiewak, M Gawor, B Miłosz-Wieczorek, K Werys, Ł A Małek, M Marczak, J Grzybowski
AIM: To investigate changes in myocardial tissue volume during the cardiac cycle to verify the hypothesis of non-compressibility of the myocardium in healthy individuals (HI) as well as in patients with hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and aortic stenosis (AS). MATERIALS AND METHODS: The study group included 30 HI, and patients with HCM (n=110), DCM (n=89), and AS (n=78). Left ventricular (LV) function, end-diastolic, and end-systolic volumes were calculated based on cardiac magnetic resonance imaging (CMR) for all participants...
January 6, 2017: Clinical Radiology
https://www.readbyqxmd.com/read/28068798/an-asymptomatic-septal-perforator-coronary-artery-left-ventricle-fistula-following-myectomy-in-a-patient-with-obstructive-hypertrophic-cardiomyopathy
#18
N Koutsogiannis, Ioanna Koniari, N Kounis, G Hahalis
No abstract text is available yet for this article.
January 1, 2017: Angiology
https://www.readbyqxmd.com/read/28067962/concurrent-multiple-myeloma-and-mast-cell-neoplasia-in-a-13-year-old-castrated-male-maine-coon-cat
#19
Jonathan M Bagwell, Heather R Herd, Melanie A Breshears, Steven Hodges, Theresa E Rizzi
A 13-year-old, castrated male Maine Coon cat was presented to Oklahoma State University Boren Veterinary Medical Teaching Hospital for yearly echocardiographic examination monitoring hypertrophic cardiomyopathy (HCM) diagnosed in 2003. Physical examination revealed a heart murmur and premature beats, likely related to HCM, but was otherwise unremarkable. A biochemistry profile revealed a hyperglobulinemia (6.3 g/dL). Cytologic examination of fine-needle aspirates from liver and spleen revealed increased numbers of plasma cells and mast cells, confirmed with subsequent histologic examination...
January 9, 2017: Veterinary Clinical Pathology
https://www.readbyqxmd.com/read/28065914/athlete-s-heart-vs-apical-hypertrophic-cardiomyopathy-look-again
#20
Fatima Samad, Daniel R Harland, Mark Girzadas, M Fuad Jan, A Jamil Tajik
No abstract text is available yet for this article.
January 8, 2017: European Heart Journal Cardiovascular Imaging
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