Cargando…

Cardiomyopathy associated with the Ala143Thr variant of the α-galactosidase A gene

OBJECTIVE: To investigate whether the Ala143Thr variant of the α-galactosidase A gene (A143T/GLA), with conflicting interpretations of pathogenicity, is associated with Fabry cardiomyopathy. METHODS: The index patient, a woman in her 60s with cardiomyopathy, was screened for variants in 59 cardiomyo...

Descripción completa

Detalles Bibliográficos
Autores principales:	Valtola, Kati, Nino-Quintero, Juanita, Hedman, Marja, Lottonen-Raikaslehto, Line, Laitinen, Tomi, Maria, Maleeha, Kantola, Ilkka, Naukkarinen, Anita, Laakso, Markku, Kuusisto, Johanna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2020
Materias:	Heart Failure and Cardiomyopathies
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7146944/ https://www.ncbi.nlm.nih.gov/pubmed/31949022 http://dx.doi.org/10.1136/heartjnl-2019-315933

Ejemplares similares

Late-onset and classic phenotypes of Fabry disease in males with the GLA-Thr410Ala mutation
por: Valtola, Kati, et al.
Publicado: (2023)

Nationwide prevalence and characteristics of transthyretin amyloid cardiomyopathy in Sweden
por: Lauppe, Rosa Elisabeth, et al.
Publicado: (2021)

Clinical disease presentation and ECG characteristics of LMNA mutation carriers
por: Ollila, Laura, et al.
Publicado: (2017)

Cardiac resynchronisation therapy in paediatric and congenital heart disease: differential effects in various anatomical and functional substrates
por: Janoušek, J, et al.
Publicado: (2009)

Prospective development and validation of a model to predict heart failure hospitalisation
por: Cubbon, R M, et al.
Publicado: (2014)

Inflammation and echocardiographic parameters of ventricular hypertrophy in a cohort with preserved cardiac function
por: Medenwald, D, et al.
Publicado: (2014)

Endothelial function and left ventricular diastolic functional reserve in type 2 diabetes mellitus
por: Leung, Melissa, et al.
Publicado: (2014)

Trends in left ventricular assist device use and outcomes among Medicare beneficiaries, 2004–2011
por: Lampropulos, Julianna F, et al.
Publicado: (2014)

Vitamin D levels and left ventricular diastolic function
por: Pandit, Anil, et al.
Publicado: (2014)

Novel cardiac pacemaker-based human model of periodic breathing to develop real-time, pre-emptive technology for carbon dioxide stabilisation
por: Baruah, Resham, et al.
Publicado: (2014)

Functional, morphological and electrocardiographical abnormalities in patients with apical hypertrophic cardiomyopathy and apical aneurysm: correlation with cardiac MR
por: Suwa, Kenichiro, et al.
Publicado: (2014)

ECG characteristics according to the presence of late gadolinium enhancement on cardiac MRI in hypertrophic cardiomyopathy
por: Grall, Sylvain, et al.
Publicado: (2014)

Cost-effectiveness of eplerenone in patients with systolic heart failure and mild symptoms
por: Lee, Dawn, et al.
Publicado: (2014)

Asymptomatic left ventricular dysfunction with long-term clozapine treatment for schizophrenia: a multicentre cross-sectional cohort study
por: Chow, V, et al.
Publicado: (2014)

Potential genetic predisposition for anthracycline-associated cardiomyopathy in families with dilated cardiomyopathy
por: Wasielewski, Marijke, et al.
Publicado: (2014)

The influence of aortoseptal angulation on provocable left ventricular outflow tract obstruction in hypertrophic cardiomyopathy
por: Critoph, Christopher Howell, et al.
Publicado: (2014)

In-hospital treatment and outcomes of heart failure in specialist and non-specialist services: a retrospective cohort study in the elderly
por: Parmar, Kishan R, et al.
Publicado: (2015)

Predictors and prognostic value of left atrial remodelling after acute myocardial infarction
por: Kyhl, Kasper, et al.
Publicado: (2015)

Left ventricular diastolic reserve in patients with type 2 diabetes mellitus
por: Leung, Melissa, et al.
Publicado: (2015)

Clinical prediction of incident heart failure risk: a systematic review and meta-analysis
por: Yang, Hong, et al.
Publicado: (2015)

Mechanical dyssynchrony is additive to ECG criteria and independently associated with reverse remodelling and clinical response to cardiac resynchronisation therapy in patients with advanced heart failure
por: Bank, Alan J, et al.
Publicado: (2015)

Prognostic impact of blood pressure response plus gadolinium enhancement in dilated cardiomyopathy
por: Tateishi, Emi, et al.
Publicado: (2015)

The role of cardiac biomarkers for predicting left ventricular dysfunction and cardiovascular mortality in acute exacerbations of COPD
por: Buchan, Alice, et al.
Publicado: (2015)

Ischaemia change with revascularisation versus medical therapy in reduced ejection fraction
por: Mentz, Robert J, et al.
Publicado: (2015)

Calibrated integrated backscatter and myocardial fibrosis in patients undergoing cardiac surgery
por: Prior, David L, et al.
Publicado: (2015)

Adding point of care ultrasound to assess volume status in heart failure patients in a nurse-led outpatient clinic. A randomised study
por: Gundersen, Guri Holmen, et al.
Publicado: (2016)

Prevalence and prognostic impact of kidney disease on heart failure patients
por: Löfman, Ida, et al.
Publicado: (2016)

Clinical, ECG and echocardiographic clues to the diagnosis of TTR-related cardiomyopathy
por: Damy, Thibaud, et al.
Publicado: (2016)

Comparative effects of long-acting and short-acting loop diuretics on cardiac sympathetic nerve activity in patients with chronic heart failure
por: Matsuo, Yae, et al.
Publicado: (2016)

Stress-coping skills and neuroticism in apical ballooning syndrome (Takotsubo/stress cardiomyopathy)
por: Scantlebury, Dawn C, et al.
Publicado: (2016)

Copeptin in patients with heart failure and preserved ejection fraction: a report from the prospective KaRen-study
por: Hage, Camilla, et al.
Publicado: (2015)

What can we learn from RELAX-AHF compared to previous AHF trials and what does the future hold?
por: Cannon, Jane A, et al.
Publicado: (2015)

Classification of left ventricular size: diameter or volume with contrast echocardiography?
por: Gibson, Patrick H, et al.
Publicado: (2014)

Novel genotype–phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy
por: Lopes, Luis R, et al.
Publicado: (2015)

Adaptive servoventilation versus oxygen therapy for sleep disordered breathing in patients with heart failure: a randomised trial
por: Murase, Kimihiko, et al.
Publicado: (2016)

Performance of 2014 NICE defibrillator implantation guidelines in heart failure risk stratification
por: Cubbon, Richard M, et al.
Publicado: (2016)

Individual patient data network meta-analysis of mortality effects of implantable cardiac devices
por: Woods, B, et al.
Publicado: (2015)

Ambulatory heart rate range predicts mode-specific mortality and hospitalisation in chronic heart failure
por: Cubbon, Richard M, et al.
Publicado: (2016)

Significant reduction of left atrial volume concomitant with clinical improvement after percutaneous transluminal septal myocardial ablation for drug-refractory hypertrophic obstructive cardiomyopathy, and its precise detection with multidetector CT
por: Maekawa, Yuichiro, et al.
Publicado: (2016)

Current challenges in palliative care provision for heart failure in the UK: a survey on the perspectives of palliative care professionals
por: Cheang, Mun Hong, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_q4q2eqtt05e2db61emfvhp16hh