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Hypertrophic Cardiomyopathy

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6 papers 0 to 25 followers
https://www.readbyqxmd.com/read/27476098/value-of-genetic-testing-for-the-prediction-of-long-term-outcome-in-patients-with-hypertrophic-cardiomyopathy
#1
Hannah G van Velzen, Pieter A Vriesendorp, Rogier A Oldenburg, Marjon A van Slegtenhorst, Jolanda van der Velden, Arend F L Schinkel, Michelle Michels
Pathogenic gene mutations are found in about 50% of patients with hypertrophic cardiomyopathy (HC). Previous studies have shown an association between sarcomere mutations and medium-term outcome. The association with long-term outcome has not been described. The aim of this cohort study was to assess the long-term outcomes of patients with genotype positive (G+) and genotype negative (G-) HC. The study population consisted of 626 patients with HC (512 probands and 114 relatives) who underwent phenotyping and genetic testing from 1985 to 2014...
September 15, 2016: American Journal of Cardiology
https://www.readbyqxmd.com/read/27794017/predictors-of-atrial-fibrillation-in-hypertrophic-cardiomyopathy
#2
Oliver P Guttmann, Menelaos Pavlou, Constantinos O'Mahony, Lorenzo Monserrat, Aristides Anastasakis, Claudio Rapezzi, Elena Biagini, Juan Ramon Gimeno, Giuseppe Limongelli, Pablo Garcia-Pavia, William J McKenna, Rumana Z Omar, Perry M Elliott
OBJECTIVES: Atrial fibrillation (AF) is associated with increased morbidity and mortality in patients with hypertrophic cardiomyopathy (HCM). The primary aim of this study (HCM Risk-AF) was to determine the predictors of AF in a large multicentre cohort of patients with HCM. Exploratory analyses were performed to investigate the association between AF and survival and the efficacy of antiarrhythmic therapy in maintaining sinus rhythm (SR). METHODS: A retrospective, longitudinal cohort of patients recruited between 1986 and 2008 in seven centres was used to develop multivariable Cox regression models fitted with preselected predictors...
October 28, 2016: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/27681577/update-on-hypertrophic-cardiomyopathy-and-a-guide-to-the-guidelines
#3
REVIEW
Srijita Sen-Chowdhry, Daniel Jacoby, James C Moon, William J McKenna
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disorder, affecting 1 in 500 individuals worldwide. Existing epidemiological studies might have underestimated the prevalence of HCM, however, owing to limited inclusion of individuals with early, incomplete phenotypic expression. Clinical manifestations of HCM include diastolic dysfunction, left ventricular outflow tract obstruction, ischaemia, atrial fibrillation, abnormal vascular responses and, in 5% of patients, progression to a 'burnt-out' phase characterized by systolic impairment...
November 2016: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/27688314/genotype-dependent-and-independent-calcium-signaling-dysregulation-in-human-hypertrophic-cardiomyopathy
#4
Adam S Helms, Francisco J Alvarado, Jaime Yob, Vi T Tang, Francis Pagani, Mark W Russell, Héctor H Valdivia, Sharlene M Day
BACKGROUND: Aberrant calcium signaling may contribute to arrhythmias and adverse remodeling in hypertrophic cardiomyopathy (HCM). Mutations in sarcomere genes may distinctly alter calcium handling pathways. METHODS: We analyzed gene expression, protein levels, and functional assays for calcium regulatory pathways in human HCM surgical samples with (n=25) and without (n=10) sarcomere mutations compared with control hearts (n=8). RESULTS: Gene expression and protein levels for calsequestrin, L-type calcium channel, sodium-calcium exchanger, phospholamban, calcineurin, and calcium/calmodulin-dependent protein kinase type II (CaMKII) were similar in HCM samples compared with controls...
November 29, 2016: Circulation
https://www.readbyqxmd.com/read/27371714/prevention-of-sudden-death-in-hypertrophic-cardiomyopathy-bridging-the-gaps-in-knowledge
#5
REVIEW
Adaya Weissler-Snir, Arnon Adler, Lynne Williams, Christiane Gruner, Harry Rakowski
Sudden cardiac death (SCD) is the most devastating complication of hypertrophic cardiomyopathy (HCM). Although the annual rate of SCD in the general HCM population is <1% per year according to contemporary series, there is still a small subset of patients who are at increased risk of SCD. The greatest challenge in the management of HCM is identifying those at increased risk as an implantable cardioverter defibrillator is a potentially life-saving therapy. In this review, we sought to summarize the available data on SCD in HCM and provide a clinical perspective on the current differing and somewhat conflicting European and American recommendations on risk stratification, with balanced guidance with regards to rational clinical decision making...
July 1, 2016: European Heart Journal
https://www.readbyqxmd.com/read/27109894/pharmacological-treatment-of-hypertrophic-cardiomyopathy-current-practice-and-novel-perspectives
#6
REVIEW
Enrico Ammirati, Rachele Contri, Raffaele Coppini, Franco Cecchi, Maria Frigerio, Iacopo Olivotto
Hypertrophic cardiomyopathy (HCM) is entering a phase of intense translational research that holds promise for major advances in disease-specific pharmacological therapy. For over 50 years, however, HCM has largely remained an orphan disease, and patients are still treated with old drugs developed for other conditions. While judicious use of the available armamentarium may control the clinical manifestations of HCM in most patients, specific experience is required in challenging situations, including deciding when not to treat...
September 2016: European Journal of Heart Failure
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