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Hypertrophic cardiomyopathies

Giulio Calcagni, Giuseppe Limongelli, Angelo D'Ambrosio, Francesco Gesualdo, Maria Cristina Digilio, Anwar Baban, Sonia B Albanese, Paolo Versacci, Enrica De Luca, Giovanni B Ferrero, Giuseppina Baldassarre, Gabriella Agnoletti, Elena Banaudi, Jan Marek, Juan P Kaski, Giulia Tuo, Maria Giovanna Russo, Giuseppe Pacileo, Ornella Milanesi, Daniela Messina, Maurizio Marasini, Francesca Cairello, Roberto Formigari, Maurizio Brighenti, Bruno Dallapiccola, Marco Tartaglia, Bruno Marino
A comprehensive description of morbidity and mortality in patients affected by mutations in genes encoding for signal transducers of the RAS-MAPK cascade (RASopathies) was performed in our study recently published in the International Journal of Cardiology. Seven European cardiac centres participating to the CArdiac Rasopathy NETwork (CARNET), collaborated in this multicentric, observational, retrospective data analysis and collection. In this study, clinical records of 371 patients with confirmed molecular diagnosis of RASopathy were reviewed...
February 2018: Data in Brief
Ali J Marian, Yanli Tan, Lili Li, Jeffrey T Chang, Petros Syrris, Manouchehr Hessabi, Mohammad H Rahbar, James T Willerson, Benjamin Y Cheong, Chia-Ying Liu, Neal S Kleiman, David A Bluemke, Sherif F Nagueh
<u>Rationale:</u> Hypertrophic cardiomyopathy (HCM) is a genetic paradigm of cardiac hypertrophy. Cardiac hypertrophy and interstitial fibrosis are important risk factors for sudden death and morbidity in HCM. Oxidative stress is implicated in the pathogenesis of cardiac hypertrophy and fibrosis. Treatment with anti-oxidant N-acetylcysteine (NAC) reverses cardiac hypertrophy and fibrosis in animal models of HCM. <u>Objective:</u> To determine effect sizes of NAC on indices of cardiac hypertrophy and fibrosis in patients with established HCM...
March 14, 2018: Circulation Research
Gabriela Miana de Mattos Paixão, Horácio Eduardo Veronesi, Halsted Alarcão Gomes Pereira da Silva, José Nunes de Alencar Neto, Carolina de Paulo Maldi, Luciano de Figueiredo Aguiar Filho, Ibrahim Masciarelli Francisco Pinto, Francisco Faustino de Albuquerque Carneiro de França, Edileide de Barros Correia
BACKGROUND: Electrocardiogram is the initial test in the investigation of heart disease. Electrocardiographic changes in hypertrophic cardiomyopathy have no set pattern, and correlates poorly with echocardiographic findings. Cardiac magnetic resonance imaging has been gaining momentum for better assessment of hypertrophy, as well as the detection of myocardial fibrosis. OBJECTIVES: To correlate the electrocardiographic changes with the location of hypertrophy in hypertrophic cardiomyopathy by cardiac magnetic resonance...
January 2018: Arquivos Brasileiros de Cardiologia
Liwen Liu, Bing Liu, Jing Li, Yanmin Zhang
No abstract text is available yet for this article.
December 26, 2017: EuroIntervention
Konstantin V Borisov
BACKGROUND: In patients with hypertrophic obstructive cardiomyopathy myocardial fibrosis is an independent predictor of adverse outcome. A new technique of HOCM surgical correction in patients with severe hypertrophy and septal myocardial fibrosis has been proposed. METHODS: The excision of the asymmetrical hypertrophied area of the interventricular septum causing obstruction was performed from the conal part of the right ventricle corresponding to the zone of obstruction of the left ventricle (LV)...
March 10, 2018: Annals of Thoracic Surgery
Mustafa Dawood, Noman Lateef, Abubakar Tauseef, Janki Patel
Our article refers to a 50-year-old woman with previously diagnosed rheumatoid arthritis (RA) who presented with symptoms of dyspnea on exertion and dizziness. An echocardiogram revealed a 17-mm asymmetric interventricular septum hypertrophy and systolic anterior motion of the anterior mitral valve leaflet. Association of hypertrophic obstructive cardiomyopathy (HCM) with connective tissue diseases has been well documented. For RA the human leukocyte antigen (HLA) system, particularly HLA-DR4, may possibly be a link between the two entities, as it is associated with both RA and HCM...
January 5, 2018: Curēus
Stephen A McCullough, Michael A Fifer, Pouya Mohajer, Patricia A Lowry, Caitlin O'Callaghan Reen, Aaron L Baggish, Gus J Vlahakes, Yuichi J Shimada
BACKGROUND: The clinical characteristics associated with elevated right atrial pressure (RAP) in hypertrophic cardiomyopathy (HCM) are unknown. Few data exist as to whether elevated RAP has prognostic implications in patients with HCM. This study investigated the clinical correlates and prognostic value of elevated RAP in HCM.Methods and Results:This retrospective cohort study was performed on 180 patients with HCM who underwent right heart catheterization between 1997 and 2014. Elevated RAP was defined as >8 mmHg...
March 9, 2018: Circulation Journal: Official Journal of the Japanese Circulation Society
Sara Saberi, Sharlene M Day
No abstract text is available yet for this article.
March 8, 2018: International Journal of Cardiology
Giulio Calcagni, Rachele Adorisio, Simone Martinelli, Giorgia Grutter, Anwar Baban, Paolo Versacci, Maria Cristina Digilio, Fabrizio Drago, Bruce D Gelb, Marco Tartaglia, Bruno Marino
RASopathies are a heterogeneous group of genetic syndromes characterized by mutations in genes that regulate cellular processes, including proliferation, differentiation, survival, migration, and metabolism. Excluding congenital heart defects, hypertrophic cardiomyopathy is the most frequent cardiovascular defect in patients affected by RASopathies. A worse outcome (in terms of surgical risk and/or mortality) has been described in a specific subset of Rasopathy patients with early onset, severe hypertrophic cardiomyopathy presenting with heart failure...
April 2018: Heart Failure Clinics
Amanda C Garfinkel, Jonathan G Seidman, Christine E Seidman
Sarcomere cardiomyopathies are genetic diseases that perturb contractile function and lead to hypertrophic or dilated myocardial remodeling. Identification of preclinical mutation carriers has yielded insights into the earliest biomechanical defects that link pathogenic variants to cardiac dysfunction. Understanding this early molecular pathophysiology can illuminate modifiable pathways to reduce the emergence of overt cardiomyopathy and curb adverse outcomes. Here, the authors review current understandings of how human hypertrophic cardiomyopathy- and hypertrophic dilated cardiomyopathy-linked mutations disrupt the normal structure and function of the sarcomere...
April 2018: Heart Failure Clinics
Nianwei Zhou, Shengmei Qin, Yili Liu, Lu Tang, Weipeng Zhao, Cuizhen Pan, Zilong Qiu, Xiaolin Wang, Xianhong Shu
Most patients with hypertrophic cardiomyopathy have single-gene autosomal dominant mutations in loci that encode for sarcomeric proteins. The aim of this study was to determine whether pathogenic mutations were present by whole-exome sequencing (WES) in two families with hypertrophic cardiomyopathy (HCM) that presented during adolescence. Blood samples and clinical data were collected from individuals in two families with HCM. DNA was extracted. Mutations were identified using whole-exome sequencing (WES), and the genotypes of family members were identified using Sanger sequencing...
March 7, 2018: European Journal of Medical Genetics
Zachary Solomon, Catalina Breton, Ethan J Rowin, Barry J Maron, Martin S Maron, Frederick Y Chen, Hassan Rastegar
Left ventricular outflow tract obstruction secondary to hypertrophic obstructive cardiomyopathy remains a challenging entity facing clinicians. Despite the success of invasive therapies, some clinicians remain hesitant due to early results with unacceptable morbidity and mortality rates. However, current literature strongly suggests improved short and long-term outcomes with extended septal myectomy and alcohol septal ablation compared to patients not undergoing such interventions. This review evaluates hypertrophic obstructive cardiomyopathy treatment with a focus on short and long-term outcomes, perioperative complications, and major tenets of surgical intervention...
March 7, 2018: Seminars in Thoracic and Cardiovascular Surgery
Szu-Ying Tsai, Shan-Ying Wang, Yu-Chien Shiau, Yen-Wen Wu
Hypertrophic cardiomyopathy (HCM) is an often under-diagnosed cause of left ventricular hypertrophy (LVH). It affects 1/500 of the population, is the most commonly inherited cardiovascular disorder, and can present in apical, concentric, or septal forms. Although most patients are asymptomatic, sudden cardiac death can be the initial presentation of HCM. By retrospectively enrolling patients suspected of having three different types of HCM in the absence of epicardial coronary stenosis, we aimed to examine systolic and diastolic dysfunction and perfusion abnormalities using both Doppler echocardiography and state-of-the-art gated single-photon emission computerized tomography (SPECT) myocardial perfusion imaging (MPI) with a cadmium-zinc-telluride camera and thallium-201...
March 8, 2018: Scientific Reports
William E Moody, Matthias Schmitt, Parthiban Arumugam
No abstract text is available yet for this article.
March 7, 2018: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
Matthew J O'Connor, Kelley Miller, Robert E Shaddy, Kimberly Y Lin, Brian D Hanna, Chitra Ravishankar, Joseph W Rossano
Hypertrophic cardiomyopathy has a range of clinical severity in children. Treatment options are limited, mainly on account of small patient size. Disopyramide is a sodium channel blocker with negative inotropic properties that effectively reduces left ventricular outflow tract gradients in adults with hypertrophic cardiomyopathy, but its efficacy in children is uncertain. A retrospective chart review of patients ⩽21 years of age with hypertrophic cardiomyopathy at our institution and treated with disopyramide was performed...
April 2018: Cardiology in the Young
Salma I Patel, Michael J Ackerman, Fadi E Shamoun, Jeffrey B Geske, Steve R Ommen, William T Love, Stephen S Cha, Johan M Bos, Steven J Lester
INTRODUCTION: Risk assessment for sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HCM) remains complex. The goal of this study was to assess electrocardiogram (ECG)-derived risk factors on SCD in a large HCM population Methods: Retrospective review of adults with HCM evaluated at Mayo Clinic, Rochester, MN from 1 December 2002 to 31 December 2012 was performed. Data inclusive of ECG and 24-hour ambulatory Holter monitor were assessed. SCD events were documented by ventricular fibrillation (VF) noted on implantable cardioverter defibrillator (ICD), or appropriate VT or VF-terminating ICD shock...
March 7, 2018: Acta Cardiologica
Sinem Özyılmaz, Muhammet Hulusi Satılmışoğlu, Mehmet Gül, Hüseyin Uyarel, Osman Akin Serdar
OBJECTIVE: The aim of this study was to determine the relationship between serum uric acid (UA) level and the predicted risk score for sudden cardiac death in 5 years (the HCM Risk-SCD), galectin-3 level, and positive fragmented QRS (fQRS) on electrocardiography (ECG) in patients with hypertrophic cardiomyopathy (HCM). METHODS: This was a prospective, observational study. In all, 115 consecutive patients (age >17 years) with HCM and 80 healthy participants were included in the study...
March 2018: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
Marta Seco-Cervera, Dayme González-Rodríguez, José Santiago Ibáñez-Cabellos, Lorena Peiró-Chova, Federico V Pallardó, José Luis García-Giménez
Friedreich's ataxia (FRDA; OMIM 229300), an autosomal recessive neurodegenerative mitochondrial disease, is the most prevalent hereditary ataxia. In addition, FRDA patients have shown additional non-neurological features such as scoliosis, diabetes, and cardiac complications. Hypertrophic cardiomyopathy, which is found in two thirds of patients at the time of diagnosis, is the primary cause of death in these patients. Here, we used small RNA-seq of microRNAs (miRNAs) purified from plasma samples of FRDA patients and controls...
March 6, 2018: Scientific Data
Till Huelnhagen, Min-Chi Ku, Henning Matthias Reimann, Teresa Serradas Duarte, Andreas Pohlmann, Bert Flemming, Erdmann Seeliger, Christina Eichhorn, Victor A Ferrari, Marcel Prothmann, Jeanette Schulz-Menger, Thoralf Niendorf
Hypertrophic cardiomyopathy (HCM) is the most common genetic disease of the myocardium and bares the risk of progression to heart failure or sudden cardiac death. Identifying patients at risk remains an unmet need. Recognizing the dependence of microscopic susceptibility on tissue microstructure and on cardiac macromorphology we hypothesized that myocardial T2 * might be altered in HCM patients compared to healthy controls. To test this hypothesis, myocardial T2 * -mapping was conducted at 7.0 Tesla to enhance T2 * -contrast...
March 5, 2018: Scientific Reports
Carolyn Y Ho, Mark S Link
No abstract text is available yet for this article.
March 6, 2018: Circulation
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