Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study.


BACKGROUND:Mutations in sarcomere protein, PRKAG2, LAMP2, alpha-galactosidase A (GLA), and several mitochondrial genes can cause rare familial cardiomyopathies, but their contribution to increased left ventricular wall thickness (LVWT) in the community is unknown. METHODS AND RESULTS:We studied 1862 unrelated participants (52% women; age, 59+/-9 years) from the community-based Framingham Heart Study who had echocardiograms and provided DNA samples but did not have severe hypertension, aortic prosthesis, or significant aortic stenosis. Eight sarcomere protein genes, 3 storage cardiomyopathy-causing genes, and 27 mitochondrial genes were sequenced in unrelated individuals with increased LVWT (maximum LVWT >13 mm). Fifty eligible participants (9 women) had unexplained increased LVWT. We detected 8 mutations in 9 individuals (2 women); 7 mutations in 5 sarcomere protein genes (MYH7, MYBPC3, TNNT2, TNNI3, MYL3), and 1 GLA mutation. In individuals with increased LVWT, participants with sarcomere protein and storage mutations were clinically indistinguishable from those without mutations. CONCLUSIONS:In a community-based cohort, about 3% of eligible participants had increased LVWT, of whom 18% had sarcomere protein or lipid storage gene mutations. Increased LVWT in the community is a very heterogeneous condition, which sometimes may arise from single-gene variants in one of a number of genes.






Morita H,Larson MG,Barr SC,Vasan RS,O'Donnell CJ,Hirschhorn JN,Levy D,Corey D,Seidman CE,Seidman JG,Benjamin EJ




Has Abstract


2006-06-13 00:00:00














  • Alteration in left ventricular diastolic filling and accumulation of myocardial collagen at insulin-resistant prediabetic stage of a type II diabetic rat model.

    abstract:BACKGROUND:Considerable controversy exists regarding impairment of cardiac function in diabetes mellitus (DM). We investigated the serial changes in left ventricular (LV) histopathology and LV filling dynamics in Otsuka Long-Evans Tokushima Fatty (OLETF) rats, which have been established as an animal model of type II D...


    pub_type: 杂志文章


    authors: Mizushige K,Yao L,Noma T,Kiyomoto H,Yu Y,Hosomi N,Ohmori K,Matsuo H

    更新日期:2000-02-29 00:00:00

  • Coronary vasomotor effects of serotonin in patients with angina. Relation to coronary stenosis morphology.

    abstract:BACKGROUND:Previous experimental studies have shown that the effect of serotonin on a coronary stenosis depends on whether that stenosis is compliant or fixed. However, the relation between coronary stenosis morphology and the response to serotonin in patients with angina is not known. METHODS AND RESULTS:Using comput...


    pub_type: 杂志文章


    authors: Tousoulis D,Davies G,McFadden E,Clarke J,Kaski JC,Maseri A

    更新日期:1993-10-01 00:00:00

  • Increased carotid intimal-medial thickness and coronary calcification are related in young and middle-aged adults. The Muscatine study.

    abstract:BACKGROUND:Increased carotid intimal-medial thickness (IMT) and coronary artery calcification (CAC) are used as 2 markers of early atherosclerosis. Our objectives were to assess whether increased IMT and CAC are related and to determine the relationship between cardiovascular risk factors and carotid IMT in young adult...


    pub_type: 杂志文章


    authors: Davis PH,Dawson JD,Mahoney LT,Lauer RM

    更新日期:1999-08-24 00:00:00

  • Shock occurrence and survival in 241 patients with implantable cardioverter-defibrillator therapy.

    abstract:BACKGROUND:The purpose of this study was to determine the influence of clinical characteristics on shock occurrence and survival in 241 patients with implantable cardioverter-defibrillator (ICD) therapy. METHODS AND RESULTS:Two hundred forty-one consecutive patients underwent ICD implantation between November 1982 and...


    pub_type: 杂志文章


    authors: Grimm W,Flores BT,Marchlinski FE

    更新日期:1993-06-01 00:00:00

  • Alterations of skeletal muscle in chronic heart failure.

    abstract:BACKGROUND:The present study was designed to define the prevalence and characteristics of skeletal muscle alterations in patients with chronic heart failure (CHF) and their relation to exercise capacity. METHODS AND RESULTS:The ultrastructure of skeletal muscle was analyzed by ultrastructural morphometry in 57 patient...


    pub_type: 杂志文章


    authors: Drexler H,Riede U,Münzel T,König H,Funke E,Just H

    更新日期:1992-05-01 00:00:00

  • Quantification of cardiomyocyte hypertrophy by cardiac magnetic resonance: implications for early cardiac remodeling.

    abstract:BACKGROUND:Cardiomyocyte hypertrophy is a critical precursor to the development of heart failure. Methods to phenotype cellular hypertrophy noninvasively are limited. The goal was to validate a cardiac magnetic resonance-based approach for the combined assessment of extracellular matrix expansion and cardiomyocyte hype...


    pub_type: 杂志文章


    authors: Coelho-Filho OR,Shah RV,Mitchell R,Neilan TG,Moreno H Jr,Simonson B,Kwong R,Rosenzweig A,Das S,Jerosch-Herold M

    更新日期:2013-09-10 00:00:00

  • High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.

    abstract:BACKGROUND:Patients with congenital heart disease (CHD) and heterotaxy show high postsurgical morbidity/mortality, with some developing respiratory complications. Although this finding is often attributed to the CHD, airway clearance and left-right patterning both require motile cilia function. Thus, airway ciliary dys...


    pub_type: 杂志文章


    authors: Nakhleh N,Francis R,Giese RA,Tian X,Li Y,Zariwala MA,Yagi H,Khalifa O,Kureshi S,Chatterjee B,Sabol SL,Swisher M,Connelly PS,Daniels MP,Srinivasan A,Kuehl K,Kravitz N,Burns K,Sami I,Omran H,Barmada M,Olivier K,

    更新日期:2012-05-08 00:00:00

  • p27kip1-838C>A single nucleotide polymorphism is associated with restenosis risk after coronary stenting and modulates p27kip1 promoter activity.

    abstract:BACKGROUND:The cyclin-dependent kinase inhibitor p27(kip1) is a key regulator of smooth muscle cell and leukocyte proliferation in vascular disease, including in-stent restenosis. We therefore hypothesized that common genetic variations or single nucleotide polymorphisms in p27(kip1) may serve as a useful tool in risk ...


    pub_type: 杂志文章


    authors: van Tiel CM,Bonta PI,Rittersma SZ,Beijk MA,Bradley EJ,Klous AM,Koch KT,Baas F,Jukema JW,Pons D,Sampietro ML,Pannekoek H,de Winter RJ,de Vries CJ

    更新日期:2009-08-25 00:00:00

  • Coronary Artery Calcium to Guide a Personalized Risk-Based Approach to Initiation and Intensification of Antihypertensive Therapy.

    abstract:BACKGROUND:The use of atherosclerotic cardiovascular disease (ASCVD) risk to personalize systolic blood pressure (SBP) treatment goals is a topic of increasing interest. Therefore, we studied whether coronary artery calcium (CAC) can further guide the allocation of anti-hypertensive treatment intensity. METHODS:We inc...


    pub_type: 杂志文章


    authors: McEvoy JW,Martin SS,Dardari ZA,Miedema MD,Sandfort V,Yeboah J,Budoff MJ,Goff DC Jr,Psaty BM,Post WS,Nasir K,Blumenthal RS,Blaha MJ

    更新日期:2017-01-10 00:00:00

  • Inhibition of matrix metalloproteinase activity by TIMP-1 gene transfer effectively treats ischemic cardiomyopathy.

    abstract:BACKGROUND:Enhanced activity of matrix metalloproteinases (MMPs) has been associated with extracellular matrix degradation and ischemic heart failure in animal models and human patients. This study evaluated the effects of MMP inhibition by gene transfer of TIMP-1 in a rat model of ischemic cardiomyopathy. METHODS AND...


    pub_type: 杂志文章


    authors: Jayasankar V,Woo YJ,Bish LT,Pirolli TJ,Berry MF,Burdick J,Bhalla RC,Sharma RV,Gardner TJ,Sweeney HL

    更新日期:2004-09-14 00:00:00

  • Long-term outcome of renal transplant recipients in the United States after coronary revascularization procedures.

    abstract:BACKGROUND:Retrospective studies in dialysis patients have reported increased survival after coronary artery bypass (CAB) compared with coronary artery stenting and PTCA. The purpose of this study was to compare the long-term outcome of renal transplant recipients after stent, PTCA, or CAB with or without internal mamm...


    pub_type: 杂志文章


    authors: Herzog CA,Ma JZ,Collins AJ

    更新日期:2004-06-15 00:00:00

  • Bone marrow derived mesenchymal cell mobilization by granulocyte-colony stimulating factor after acute myocardial infarction: results from the Stem Cells in Myocardial Infarction (STEMMI) trial.

    abstract:BACKGROUND:Granulocyte-colony stimulating factor (G-CSF) after myocardial infarction does not affect systolic function when compared with placebo. In contrast, intracoronary infusion of bone marrow cells appears to improve ejection fraction. We aimed to evaluate the G-CSF mobilization of subsets of stem cells. METHODS...


    pub_type: 杂志文章,随机对照试验


    authors: Ripa RS,Haack-Sørensen M,Wang Y,Jørgensen E,Mortensen S,Bindslev L,Friis T,Kastrup J

    更新日期:2007-09-11 00:00:00

  • Bone Marrow Endothelial Cells Regulate Myelopoiesis in Diabetes Mellitus.

    abstract:BACKGROUND:Diabetes mellitus is a prevalent public health problem that affects about one-third of the US population and leads to serious vascular complications with increased risk for coronary artery disease. How bone marrow hematopoiesis contributes to diabetes mellitus complications is incompletely understood. We inv...


    pub_type: 杂志文章


    authors: Hoyer FF,Zhang X,Coppin E,Vasamsetti SB,Modugu G,Schloss MJ,Rohde D,McAlpine CS,Iwamoto Y,Libby P,Naxerova K,Swirski FK,Dutta P,Nahrendorf M

    更新日期:2020-07-21 00:00:00

  • Mechanism of benefit of negative inotropes in obstructive hypertrophic cardiomyopathy.

    abstract:BACKGROUND:Drugs with negative inotropic effect are widely used to decrease obstruction in hypertrophic cardiomyopathy (HCM). However, the mechanism of therapeutic benefit has not been studied. METHODS AND RESULTS:We used M-mode, two-dimensional, and pulsed Doppler echocardiography to study 11 patients with obstructiv...


    pub_type: 杂志文章


    authors: Sherrid MV,Pearle G,Gunsburg DZ

    更新日期:1998-01-06 00:00:00

  • Effects of propranolol and nifedipine on exercise-induced attack in patients variant angina: assessment by exercise thallium-201 myocardial scintigraphy with quantitative rotational tomography.

    abstract::To examine the effects of propranolol and nifedipine on exercise-induced attack in patients with variant angina, exercise 201Tl myocardial scintigraphy with quantitative analysis by emission-computed tomography was performed in 20 patients with variant angina after oral propranolol (80 mg), nifedipine (20 mg), and pla...


    pub_type: 临床试验,杂志文章


    authors: Kugiyama K,Yasue H,Horio Y,Morikami Y,Fujii H,Koga Y,Kojima A,Takahashi M

    更新日期:1986-08-01 00:00:00

  • Reentry as a cause of ventricular tachycardia in patients with chronic ischemic heart disease: electrophysiologic and anatomic correlation.

    abstract::In this report we describe electrophysiologic and histologic findings in hearts and endocardially resected preparations from patients with sustained ventricular tachycardias in the chronic phase of myocardial infarction. We recorded simultaneously from 64 endocardial sites during tachycardia in 72 patients that were o...


    pub_type: 杂志文章


    authors: de Bakker JM,van Capelle FJ,Janse MJ,Wilde AA,Coronel R,Becker AE,Dingemans KP,van Hemel NM,Hauer RN

    更新日期:1988-03-01 00:00:00

  • Coronary occlusion during coronary angiography.

    abstract::Between January 1, 1970, and December 31, 1974, 2981 patients underwent coronary arteriography. Twelve acute coronary dissections or embolizations occurred, an incidence of 0.4%. The incidences of acute occlusions for the Sones and Judkins techniques were 0.19% (4/2077 studies) and 0.88% (8/940), respectively. No inst...


    pub_type: 杂志文章


    authors: Guss SB,Zir LM,Garrison HB,Daggett WM,Block PC,Dinsmore RE

    更新日期:1975-12-01 00:00:00

  • Activation of hypoxia-inducible factor-1 in bacillary angiomatosis: evidence for a role of hypoxia-inducible factor-1 in bacterial infections.

    abstract:BACKGROUND:Bartonella species are the only known bacterial pathogens causing vasculoproliferative disorders in humans (bacillary angiomatosis [BA]). Cellular and bacterial pathogenetic mechanisms underlying the induction of BA are largely unknown. METHODS AND RESULTS:Activation of hypoxia-inducible factor-1 (HIF-1), t...


    pub_type: 杂志文章


    authors: Kempf VA,Lebiedziejewski M,Alitalo K,Wälzlein JH,Ehehalt U,Fiebig J,Huber S,Schütt B,Sander CA,Müller S,Grassl G,Yazdi AS,Brehm B,Autenrieth IB

    更新日期:2005-03-01 00:00:00

  • Determinants and prognostic impact of heart failure complicating acute coronary syndromes: observations from the Global Registry of Acute Coronary Events (GRACE).

    abstract:BACKGROUND:Few data are available on the impact of heart failure (HF) across all types of acute coronary syndromes (ACS). METHODS AND RESULTS:The Global Registry of Acute Coronary Events (GRACE) is a prospective study of patients hospitalized with ACS. Data from 16 166 patients were analyzed: 13 707 patients without p...


    pub_type: 杂志文章


    authors: Steg PG,Dabbous OH,Feldman LJ,Cohen-Solal A,Aumont MC,López-Sendón J,Budaj A,Goldberg RJ,Klein W,Anderson FA Jr,Global Registry of Acute Coronary Events Investigators.

    更新日期:2004-02-03 00:00:00

  • Implantable left ventricular assist device. Approaching an alternative for end-stage heart failure. Implantable LVAD Study Group.

    abstract:BACKGROUND:The implantable left ventricular assist device (LVAD) was designed to provide circulatory support as an alternative to heart transplantation or to continued medical therapy of end-stage heart failure. Initial experience with the implantable LVAD used as a bridge to heart transplantation provides a clinical o...


    pub_type: 临床试验,杂志文章,多中心研究


    authors: McCarthy PM,James KB,Savage RM,Vargo R,Kendall K,Harasaki H,Hobbs RE,Pashkow FJ

    更新日期:1994-11-01 00:00:00

  • Plasma von Willebrand factor and soluble p-selectin as indices of endothelial damage and platelet activation in 1321 patients with nonvalvular atrial fibrillation: relationship to stroke risk factors.

    abstract:BACKGROUND:Epidemiological studies have identified clinical and echocardiographic factors associated with increased stroke risk in atrial fibrillation (AF), but mechanisms linking these factors to stroke in AF are incompletely understood. We hypothesized that stroke risk factors may be associated with increased endothe...


    pub_type: 临床试验,杂志文章,多中心研究,随机对照试验


    authors: Conway DS,Pearce LA,Chin BS,Hart RG,Lip GY

    更新日期:2002-10-08 00:00:00

  • Effect of atrial fibrillation on atrial refractoriness in humans.

    abstract:BACKGROUND:The acute effect of atrial fibrillation (AF) on the atrial effective refractory period (ERP) in humans is unknown. METHODS AND RESULTS:In 20 patients without structural heart disease, the atrial ERP was measured before and after pacing-induced AF at drive cycle lengths of 350 and 500 ms. Immediately after s...


    pub_type: 杂志文章


    authors: Daoud EG,Bogun F,Goyal R,Harvey M,Man KC,Strickberger SA,Morady F

    更新日期:1996-10-01 00:00:00

  • A new paradigm for plaque stabilization.

    abstract::The concept of plaque stabilization was developed to explain how lipid lowering could decrease adverse coronary events without a substantial reduction in the regression of atherosclerosis. Plaques were stabilized by reducing serum cholesterol leading to several favorable pathobiological changes in the vessel wall of l...


    pub_type: 杂志文章


    authors: Ambrose JA,Martinez EE

    更新日期:2002-04-23 00:00:00

  • Sustained improvement in flow-mediated vasodilation after short-term administration of dobutamine in patients with severe congestive heart failure.

    abstract:BACKGROUND:In patients with severe congestive heart failure (CHF), short-term administration of dobutamine exerts sustained clinical benefits that are partially mediated by a training-like effect on skeletal muscle. Recently, physical training has been shown to enhance endothelial function in the skeletal muscle vascul...


    pub_type: 临床试验,杂志文章


    authors: Patel MB,Kaplan IV,Patni RN,Levy D,Strom JA,Shirani J,LeJemtel TH

    更新日期:1999-01-05 00:00:00

  • Adverse intrauterine conditions diminish the fetal defense against acute hypoxia by increasing nitric oxide activity.

    abstract:BACKGROUND:The incidence of perinatal morbidity arising from birth hypoxia or asphyxia has not changed significantly in recent years despite marked improvements in labor management. Perinatal mortality in these circumstances may therefore reflect antenatal compromise and subsequent alteration of the fetal capacity to r...


    pub_type: 杂志文章


    authors: Gardner DS,Fowden AL,Giussani DA

    更新日期:2002-10-22 00:00:00

  • Angina micturition.

    abstract::A case history of a 46-year-old Negro male was presented with rheumatic aortic insufficiency, angina pectoris, and possible subacute bacterial endocarditis. While hospitalized, the patient developed angina pectoris associated with micturition. This was not accompanied by a change in blood pressure, pulse, or increase ...


    pub_type: 历史文章,杂志文章


    authors: Morris JJ,McIntosh HD

    更新日期:1963-01-01 00:00:00

  • Technetium-99m stannous pyrophosphate myocardial scintigraphy. Reliability and limitations in assessment of acute myocardial infarction.

    abstract::Two hundred-three patients had -echnetium 99m (stannous) pyrophosphate myocardial scintigrams for the evaluation of chest pain and suspected acute myocardial infarction. In addition to routine imaging at 60--90 minutes after injection of the radio-pharmaceutical, the blood pool was imaged immediately in each patient f...


    pub_type: 杂志文章


    authors: Cowley MJ,Mantle JA,Rogers WJ,Russel RO Jr,Rackley CE,Logic JR

    更新日期:1977-08-01 00:00:00

  • Alternative Strategies to Achieve Cardiovascular Mortality Goals in China and India: A Microsimulation of Target- Versus Risk-Based Blood Pressure Treatment.

    abstract:BACKGROUND:The World Health Organization aims to reduce mortality from chronic diseases including cardiovascular disease (CVD) by 25% by 2025. High blood pressure is a leading CVD risk factor. We sought to compare 3 strategies for treating blood pressure in China and India: a treat-to-target (TTT) strategy emphasizing ...


    pub_type: 杂志文章


    authors: Basu S,Yudkin JS,Sussman JB,Millett C,Hayward RA

    更新日期:2016-03-01 00:00:00

  • Clinical and Genetic Determinants of Varicose Veins.

    abstract:BACKGROUND:Varicose veins are a common problem with no approved medical therapies. Although it is believed that varicose vein pathogenesis is multifactorial, there is limited understanding of the genetic and environmental factors that contribute to their formation. Large-scale studies of risk factors for varicose veins...


    pub_type: 杂志文章,多中心研究


    authors: Fukaya E,Flores AM,Lindholm D,Gustafsson S,Zanetti D,Ingelsson E,Leeper NJ

    更新日期:2018-12-18 00:00:00

  • Clinical pharmacology and antiarrhythmic efficacy of encainide in patients with chronic ventricular arrhythmias.

    abstract::We determined the pharmacokinetics, efficacy and therapeutic plasma concentration of encainide, a new antiarrhythmic drug that affects His-Purkinje conduction but not ventricular refractoriness. Nine patients with frequent and complex premature ventricular complexes were studied in a 3-day double-blind protocol. Each ...


    pub_type: 临床试验,杂志文章


    authors: Winkle RA,Peters F,Kates RE,Tucker C,Harrison DC

    更新日期:1981-08-01 00:00:00