The Experts below are selected from a list of 309 Experts worldwide ranked by ideXlab platform
B J Maron - One of the best experts on this subject based on the ideXlab platform.
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clinical course and management of Hypertrophic Cardiomyopathy
The New England Journal of Medicine, 2018Co-Authors: B J MaronAbstract:Hypertrophic Cardiomyopathy HCM is the most common genetic disorder of the heart, with 1 case per 200 to 500 persons, and often remains clinically silent. HCM is the most common cause of sudden dea...
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glycogen storage diseases presenting as Hypertrophic Cardiomyopathy
The New England Journal of Medicine, 2005Co-Authors: Michael Arad, B J Maron, P Spirito, Joshua M Gorham, Walter H Johnson, Philip J Saul, Antonio R Perezatayde, Gregory B Wright, Ronald J Kanter, Christine E SeidmanAbstract:background Unexplained left ventricular hypertrophy often prompts the diagnosis of Hypertrophic Cardiomyopathy, a sarcomere-protein gene disorder. Because mutations in the gene for AMP-activated protein kinase g 2 ( PRKAG2 ) cause an accumulation of cardiac glycogen and left ventricular hypertrophy that mimics Hypertrophic Cardiomyopathy, we hypothesized that Hypertrophic Cardiomyopathy might also be clinically misdiagnosed in patients with other mutations in genes regulating glycogen metabolism. methods Genetic analyses performed in 75 consecutive unrelated patients with Hypertrophic Cardiomyopathy detected 40 sarcomere-protein mutations. In the remaining 35 patients, PRKAG2 , lysosome-associated membrane protein 2 ( LAMP2 ), a -galactosidase ( GLA ), and acid a -1,4-glucosidase ( GAA ) genes were studied. results Gene defects causing Fabry’s disease ( GLA ) and Pompe’s disease ( GAA ) were not found, but two LAMP2 and one PRKAG2 mutations were identified in probands with prominent hypertrophy and electrophysiological abnormalities. These results prompted the study of two additional, independent series of patients. Genetic analyses of 20 subjects with massive hypertrophy (left ventricular wall thickness, ≥30 mm) but without electrophysiological abnormalities revealed mutations in neither LAMP2 nor PRKAG2 . Genetic analyses of 24 subjects with increased left ventricular wall thickness and electrocardiograms suggesting ventricular preexcitation revealed four LAMP2 and seven PRKAG2 mutations. Clinical features associated with defects in LAMP2 included male sex, severe hypertrophy, early onset (at 8 to 17 years of age), ventricular preexcitation, and asymptomatic elevations of two serum proteins. conclusions LAMP2 mutations typically cause multisystem glycogen-storage disease (Danon’s disease) but can also present as a primary Cardiomyopathy. The glycogen-storage Cardiomyopathy produced by LAMP2 or PRKAG2 mutations resembles Hypertrophic Cardiomyopathy but is distinguished by electrophysiological abnormalities, particularly ventricular preexcitation.
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effect of left ventricular outflow tract obstruction on clinical outcome in Hypertrophic Cardiomyopathy
The New England Journal of Medicine, 2003Co-Authors: Martin S Maron, Sandro Betocchi, Iacopo Olivotto, Susan A Casey, John R Lesser, Maria A Losi, Franco Cecchi, B J MaronAbstract:Background The influence of left ventricular outflow tract obstruction on the clinical outcome of Hypertrophic Cardiomyopathy remains unresolved. Methods We assessed the effect of outflow tract obstruction on morbidity and mortality in a large cohort of patients with Hypertrophic Cardiomyopathy who were followed for a mean (±SD) of 6.3±6.2 years. Results Of the 1101 consecutive patients, 273 (25 percent) had obstruction of left ventricular outflow under basal (resting) conditions with a peak instantaneous gradient of at least 30 mm Hg. A total of 127 patients (12 percent) died of Hypertrophic Cardiomyopathy, and 216 surviving patients (20 percent) had severe, disabling symptoms of progressive heart failure (New York Heart Association [NYHA] functional class III or IV). The overall probability of death related to Hypertrophic Cardiomyopathy was significantly greater among patients with outflow tract obstruction than among those without obstruction (relative risk, 2.0; P=0.001). The risk of progression to N...
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sarcomere protein gene mutations in Hypertrophic Cardiomyopathy of the elderly
Circulation, 2002Co-Authors: Hideshi Niimura, B J Maron, William J. Mckenna, J G Seidman, Kristen K Patton, Johann Soults, Christine E SeidmanAbstract:Background— Hypertrophic Cardiomyopathy, a familial myocardial condition caused by sarcomere protein mutations, is usually recognized by early adulthood. Hypertrophic Cardiomyopathy of the elderly has similar clinical features but, notably, a later age of onset and noncontributory family history. Causes of elderly-onset Hypertrophic Cardiomyopathy are unknown. Methods and Results— Eighteen women and 13 men diagnosed with late-onset Hypertrophic Cardiomyopathy were studied. Initial symptoms occurred at 59.3 (±12.3) years, and diagnosis was made at 62.8 (±10.8) years. None had family histories of Cardiomyopathy. Echocardiography demonstrated maximal left ventricular wall thickness of 19.9±3.8 mm, systolic anterior motion of the mitral valve (58%), and, in 11 individuals, left ventricular outflow tract gradients (average, 63±42.8 mm). Sarcomere protein gene analyses revealed 8 sequence variants in cardiac myosin binding protein-C (1 nonsense, 1 splice acceptor site, and 3 missense), cardiac troponin I (2 mis...
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Implications of left ventricular remodeling in Hypertrophic Cardiomyopathy
The American journal of cardiology, 1998Co-Authors: B J Maron, P SpiritoAbstract:Left ventricular remodeling occurs spontaneously among patients with Hypertrophic Cardiomyopathy in several ways: (1) wall thickening in children; (2) wall thinning associated with cavity enlargement in midlife; and possibly (3) a very gradual wall thinning process occurring over long periods of time in adulthood.
Bernard J. Gersh - One of the best experts on this subject based on the ideXlab platform.
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ventricular tachycardia in Hypertrophic Cardiomyopathy with apical aneurysm
The Annals of Thoracic Surgery, 2011Co-Authors: Dipesh K Shah, Hartzell V Schaff, Martin D Abel, Bernard J. GershAbstract:Midventricular Hypertrophic Cardiomyopathy is a rare form of Cardiomyopathy that may be associated with an apical aneurysm. The mechanism of aneurysm formation is uncertain, but it may be related to subendocardial ischemia. In this report, we describe a 57-year-old man with recurrent ventricular arrhythmias that were refractory to medical treatment because of midventricular Hypertrophic Cardiomyopathy and apical aneurysm. He was treated successfully with apical aneurysmectomy, myectomy, and subendocardial resection. Six months postoperatively, the patient was free of symptoms and was taken off all anti-arrhythmic medications with one inappropriate discharge from the implantable cardioverter-defibrillator at 4 months.
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outcome of alcohol septal ablation for obstructive Hypertrophic Cardiomyopathy
Circulation, 2008Co-Authors: Paul Sorajja, Bernard J. Gersh, Steve R. Ommen, Hartzell V Schaff, Uma S Valeti, Rick A Nishimura, Charanjit S Rihal, David O Hodge, David R HolmesAbstract:Background— The clinical efficacy of alcohol septal ablation for drug-refractory Hypertrophic Cardiomyopathy remains unclear. This study examines the outcome of alcohol septal ablation performed at a tertiary Hypertrophic Cardiomyopathy referral center. Methods and Results— Among 601 patients with severely symptomatic obstructive Hypertrophic Cardiomyopathy referred for alcohol septal ablation or myectomy from 1998 to 2006, 138 patients (median age, 64 years; 39% men) chose to undergo ablation. Procedural complications included death in 1.4%, sustained ventricular arrhythmias in 3%, tamponade in 3%, and pacemaker implantation in 20%. This rate was higher than a combined complication rate of 5% in age- and gender-matched patients who had undergone septal myectomy at Mayo Clinic (P<0.0001). Four-year survival free of all mortality was 88.0% (95% confidence interval, 79.4 to 97.5%), which was similar to that of the age- and gender-matched patients who had undergone myectomy (P=0.18). Six patients had documen...
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Ambulatory monitoring of aborted sudden cardiac death related to Hypertrophic Cardiomyopathy.
Nature Clinical Practice Cardiovascular Medicine, 2005Co-Authors: Joseph C. Vaglio, Paul Sorajja, Bernard J. GershAbstract:Ambulatory monitoring of aborted sudden cardiac death related to Hypertrophic Cardiomyopathy
Robert M. Gow - One of the best experts on this subject based on the ideXlab platform.
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Myocardial Bridging in Children with Hypertrophic Cardiomyopathy — A Risk Factor for Sudden Death
The New England journal of medicine, 1998Co-Authors: Anji T. Yetman, Brian W. Mccrindle, Cathy Macdonald, Robert M. Freedom, Robert M. GowAbstract:Background Myocardial bridging may cause compression of a coronary artery, and it has been suggested that myocardial ischemia may result. The clinical significance and prognostic value of myocardial bridging of the left anterior descending coronary artery in children with Hypertrophic Cardiomyopathy are unknown. We sought to determine the prevalence and clinical effects of myocardial bridging in children with Hypertrophic Cardiomyopathy who underwent cardiac catheterization. Methods Angiograms from 36 children with Hypertrophic Cardiomyopathy were reviewed to determine whether myocardial bridging was present and, if so, to assess the characteristics of systolic narrowing of the left anterior descending coronary artery caused by myocardial bridging and the duration of residual diastolic compression. We also reviewed clinical data on these patients. Results Myocardial bridging was present in 10 (28 percent) of the patients. Compression of the left anterior descending coronary artery persisted for a mean (±S...
González Cocina E - One of the best experts on this subject based on the ideXlab platform.
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Cardiomyopathies (VII). Natural history of Hypertrophic Cardiomyopathy
Revista espanola de cardiologia, 1996Co-Authors: Sáenz De La Calzada C, Tello De Meneses R, Delgado Jiménez J, Gómez Pajuelo C, Gómez Sánchez, González Cocina EAbstract:After a short historic review of conceptual developments in Hypertrophic Cardiomyopathy, the natural history of the disease is analyzed according to each of its morphologic and functional abnormalities. The lack of association between Hypertrophic morphology and sudden death is considered. Diastolic dysfunction and LV obstruction, although a frequent cause of dyspnea and heart failure, is not a risk factor for sudden death. Something similar occurs with the infrequent appearance in this disease of contractile failure. Myocardial ischemia is frequent in Hypertrophic Cardiomyopathy and general prognostic information about it is still lacking. Nevertheless, in young patients with family history of sudden death, a positive Thallium effort test may be a marker of sudden death (without an arrhythmogenic substrate), and may respond to verapamil. Finally, the new knowledge about genetic mutations in Hypertrophic Cardiomyopathy are analized. We conclude with some futuristic comments about Hypertrophic Cardiomyopathy.
Milind Y Desai - One of the best experts on this subject based on the ideXlab platform.
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Multimodality Imaging in Hypertrophic Cardiomyopathy for Risk Stratification
Circulation. Cardiovascular imaging, 2020Co-Authors: Albree Tower-rader, Christopher M. Kramer, Stefan Neubauer, Sherif F. Nagueh, Milind Y DesaiAbstract:In Hypertrophic Cardiomyopathy, multimodality imaging is crucial to confirm diagnosis, assess for presence and mechanism of left ventricular outflow tract obstruction, and risk stratification for s...
