Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy.

Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy.

OBJECTIVES: We investigated cardiac energetics in subjects with mutations in three different familial hypertrophic cardiomyopathy (HCM) disease genes, some of whom were nonpenetrant carriers without hypertrophy, using phosphorus-31 magnetic resonance spectroscopy. BACKGROUND: Familial hypertrophic c...

Mô tả đầy đủ

Chi tiết về thư mục
Những tác giả chính:	Crilley, J, Boehm, E, Blair, E, Rajagopalan, B, Blamire, A, Styles, P, McKenna, W, Ostman-Smith, I, Clarke, K, Watkins, H
Định dạng:	Journal article
Ngôn ngữ:	English
Được phát hành:	2003

Những quyển sách tương tự

Regression of Left Ventricular Hypertrophy in a Case of Sarcomeric Hypertrophic Cardiomyopathy
Bằng: Eva Cabrera Borrego, MD, et al.
Được phát hành: (2020-06-01)

Hypertrophic cardiomyopathy in Noonan Syndrome closely mimics familial hypertrophic cardiomyopathy due to sarcomeric mutations.
Bằng: Hudsmith, L, et al.
Được phát hành: (2006)

Left Atrial structure and function in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy
Bằng: Hoshang Farhad, et al.
Được phát hành: (2017-12-01)

Sarcomere mutation negative hypertrophic cardiomyopathy is associated with ageing and obesity
Bằng: Alejandro E de Feria, et al.
Được phát hành: (2021-02-01)

A Contraction Stress Model of Hypertrophic Cardiomyopathy due to Sarcomere Mutations
Bằng: Rachel Cohn, et al.
Được phát hành: (2019-01-01)

Childhood Hypertrophic Cardiomyopathy: A Disease of the Cardiac Sarcomere
Bằng: Gabrielle Norrish, et al.
Được phát hành: (2021-07-01)

Biomarkers and Proteomics in Sarcomeric Hypertrophic Cardiomyopathy in the Young—FGF-21 Highly Associated with Overt Disease
Bằng: Anna Wålinder Österberg, et al.
Được phát hành: (2024-03-01)

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
Bằng: Geier, C, et al.
Được phát hành: (2008)

Double mutations in CIS can confound genotype-phenotype correlations in hypertrophic cardiomyopathy
Bằng: Blair, E, et al.
Được phát hành: (2000)

The genetics of hypertrophic cardiomyopathy: Teare redux.
Bằng: Watkins, H, et al.
Được phát hành: (2008)

Multimodality Imaging in Sarcomeric Hypertrophic Cardiomyopathy: Get It Right…on Time
Bằng: Alessandro Galluzzo, et al.
Được phát hành: (2023-01-01)

Sarcomeric hypertrophic cardiomyopathy: Genetic profile in a Portuguese population
Bằng: Dulce Brito, et al.
Được phát hành: (2012-09-01)

The prognostic impact of septal myectomy in obstructive hypertrophic cardiomyopathy.
Bằng: Watkins, H, et al.
Được phát hành: (2005)

Disruption of embryonic ROCK signaling reproduces the sarcomeric phenotype of hypertrophic cardiomyopathy
Bằng: Kate E. Bailey, et al.
Được phát hành: (2020-12-01)

Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy.
Bằng: Blair, E, et al.
Được phát hành: (2001)

Hypertrophic Cardiomyopathy in Children: Pathophysiology, Diagnosis, and Treatment of Non-sarcomeric Causes
Bằng: Emanuele Monda, et al.
Được phát hành: (2021-02-01)

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes
Bằng: Walsh, R, et al.
Được phát hành: (2017)

THE SPECIFICS OF HYPERTROPHIC CARDIOMYOPATHY CLINICAL PRESENTATION IN PATIENTS WITH VARIOUS MUTATIONS OF SARCOMERE GENES
Bằng: S. M. Komissarova, et al.
Được phát hành: (2016-01-01)

Disease pathways and novel therapeutic targets in hypertrophic cardiomyopathy.
Bằng: Ashrafian, H, et al.
Được phát hành: (2011)

The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye
Bằng: Veysel Oktay, et al.
Được phát hành: (2023-10-01)

Contribution of hypoxia-inducible factor 1alpha to pathogenesis of sarcomeric hypertrophic cardiomyopathy
Bằng: Sarala Raj Murthi, et al.
Được phát hành: (2025-01-01)

Contribution of hypoxia-inducible factor 1alpha to pathogenesis of sarcomeric hypertrophic cardiomyopathy
Bằng: Raj Murthi, S, et al.
Được phát hành: (2025)

Effect of sarcomere and mitochondria-related mutations on myocardial fibrosis in patients with hypertrophic cardiomyopathy
Bằng: Hyemoon Chung, et al.
Được phát hành: (2021-03-01)

Contribution of sarcomere gene mutations to left atrial function in patients with hypertrophic cardiomyopathy
Bằng: Hyemoon Chung, et al.
Được phát hành: (2021-01-01)

Myosin sequestration regulates sarcomere function, cardiomyocyte energetics, and metabolism, informing the pathogenesis of hypertrophic cardiomyopathy
Bằng: Toepfer, CN, et al.
Được phát hành: (2020)

Ascertainment strategies and genotype:phenotype correlations in hypertrophic cardiomyopathy.
Bằng: Blair, E, et al.
Được phát hành: (2003)

Linked genetic modifiers in hypertrophic cardiomyopathy
Bằng: Ektisham, J, et al.
Được phát hành: (2004)

Subaortic and midventricular obstructive hypertrophic cardiomyopathy with extreme segmental hypertrophy
Bằng: Karoulas Takis, et al.
Được phát hành: (2007-03-01)

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield
Bằng: Thomson, K, et al.
Được phát hành: (2018)

Assessment of myocardial work in sarcomere gene mutation carriers, healthy controls and overt nonobstructive hypertrophic cardiomyopathy
Bằng: Carla Marques Pires, et al.
Được phát hành: (2025-02-01)

Proteomic and phosphoproteomic analyses of myectomy tissue reveals difference between sarcomeric and genotype-negative hypertrophic cardiomyopathy
Bằng: Ramin Garmany, et al.
Được phát hành: (2023-09-01)

Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion.
Bằng: Ashrafian, H, et al.
Được phát hành: (2003)

Early onset malignant hypertrophic cardiomyopathy caused by mutations in MYBPC3
Bằng: Carballo, S, et al.
Được phát hành: (2003)

A new variant of apical hypertrophic cardiomyopathy? T wave inversion and relative but not absolute apical left ventricular hypertrophy
Bằng: Flett Andrew, et al.
Được phát hành: (2013-01-01)

Atrial Fibrillation in Hypertrophic Cardiomyopathy: Is the Extent of Septal Hypertrophy Important?
Bằng: Kyoung-Min Park, et al.
Được phát hành: (2016-01-01)

Magnetic resonance spectroscopy evidence of abnormal cardiac energetics in Xp21 muscular dystrophy.
Bằng: Crilley, J, et al.
Được phát hành: (2000)

Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy.
Bằng: Blair, E, et al.
Được phát hành: (2002)

Novel mutations in cardiac MYBPC3 and early onset malignant hypertrophic cardiomyopathy
Bằng: Carballo, S, et al.
Được phát hành: (2005)

Derangement of cardiac energy metabolism is acutely exacerbated during exercise in hypertrophic cardiomyopathy, independent of hypertrophy or late gadolinium burden
Bằng: Dass Sairia, et al.
Được phát hành: (2012-02-01)

Hypertrophic cardiomyopathy mutations in the gamma 2 subunit of AMP-activated kinase suggest a central role of energy compromise in disease pathogenesis
Bằng: Blair, E, et al.
Được phát hành: (2001)