scholarly journals The clinical course of hypertrophic cardiomyopathy and the role of polymorphisms in the intronic and promoter regions of the gene alpha-galactosidase A

2015 ◽  
Vol 22 (4) ◽  
pp. 61-65
Author(s):  
A. A. Poliakova ◽  
E. N. Semernin ◽  
A. Ya. Gudkova
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Clinical Course ◽  
Unknown Origin ◽  
Left Ventricular ◽  
Promoter Regions ◽  
North West ◽  
The North ◽  
Alpha Galactosidase ◽  
Gla Gene

The article reflects the importance of timely diagnosis sarcomeric and non sarcomeric hypertrophic cardiomyopathy (HCM). The results of the phenotypic and genotypic screenings aimed at identifying HCM phenocopies and, in particular Fabry disease, in the structure of left ventricular hypertrophy of unknown origin in patients of the North-West region of Russia. We analyzed the influence of polymorphisms in the intronic and promoter regions of the GLA gene on clinical course and the presence of extracardiac manifestations.

P898Association of acroparesthesias and angiokeratomas with the alpha-galactosidase A gene polymorphisms in females with hypertrophic cardiomyopathy

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
A A Poliakova ◽  
A Y A Gudkova
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Atrioventricular Block ◽  
Left Ventricular ◽  
Nucleotide Polymorphisms ◽  
Organ Manifestations ◽  
Alpha Galactosidase ◽  
Gla Gene ◽  
Hands And Feet ◽  
The Impact ◽  
Intronic Snps

Abstract Introduction Clinical implications of different single nucleotide polymorphisms (SNPs) in the alpha-galactosidase A gene (α-GLA) as potential cause of symptoms and organ manifestations similarly to those seen in Fabry disease (FD) remain unclear. Purpose To study the prevalence of FD among patients with hypertrophic cardiomyopathy (HCM), as well as to evaluate the impact of polymorphic variants of the α-GLA gene on extracardiac manifestations in females with HCM. Methods The study included 321 patients with left ventricular hypertrophy ≥15 mm. 24 of the 321 patients (males (n=15) and females (n=9)) presented with HCM phenotype and extracardiac features suggestive of FD: acroparesthesias and pain in hands and feet, stroke at a young age, angiokeratomas, kidney damage (microalbuminuria, proteinuria, decreased glomerular filtration rate), suspicion for X-linked inheritance. This patients carried out screening for FD. A combined enzymatic and genetic strategy was used, measuring the activity of α-D-galactosidase A by tandem mass spectrometry (ESI-MS/MS) and genotyping the α-GLA (in females) in dried filter-paper blood spot samples. Results We haven't identified any pathogenic genetic variants in the α-GLA gene. However, in three patients with HCM, the two intronic SNPs within the α-GAL gene (c.640–16A>G [rs2071397] and c.1000–22C>T [rs2071228]) were identified. Patient no. 1, a 64-year-old female, was admitted to our clinic for the diagnosis of obstructive HCM. She also had a transient 2:1 second degree atrioventricular block, an Adams-Stokes attack, angiokeratomas and left median cerebral artery lacunar stroke in middle age. In case no. 2, a 75-year-old female, were verified obstructive HCM, a 1st degree atrioventricular block, paroxysms of nonsustained ventricular tachycardia, acroparesthesia, pain in hands and angiokeratomas. In patient no. 3, a 41-year-old female, were established combined phenotypes (nonobstructive hypertrophic + restrictive), acroparesthesia, pain in hands and angiokeratomas. Conclusions In females with HCM, the intronic SNPs (rs2071397 and rs2071228) in the α-GLA gene can be associated with angiokeratomas and acroparesthesias.

scholarly journals Role of deformation imaging in left ventricular non-compaction and hypertrophic cardiomyopathy: an Indian perspective

2020 ◽  
Vol 72 (1) ◽  
Author(s):  
A. J. Ashwal ◽  
Sudhakar Rao Mugula ◽  
Jyothi Samanth ◽  
Ganesh Paramasivam ◽  
Krishnananda Nayak ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Left Ventricular ◽  
Deformation Imaging ◽  
Indian Perspective

Conditional and Other Functions of Forms in /-(zα(.))r/ in Abkhaz

2008 ◽  
Vol 12 (1) ◽  
pp. 57-71
Author(s):  
George Hewitt
Keyword(s):  
Historical Development ◽  
Semantic Feature ◽  
Finite Form ◽  
North West ◽  
Verbal Noun ◽  
The North ◽  
Morphological Segmentation ◽  
The Future

AbstractProtases ('if'-clauses) in the North West Caucasian language Abkhaz are mostly marked by either /-r/ or /-zα.r/, depending on the tense and/or type of verb (Stative or Dynamic) concerned. The article presents examples of this conditional usage and the role of protasis-type forms in both temporal and interrogative expressions as well as in complementiser-function. The complementisers in question share the semantic feature of irrealis with conditionals. A rhotic element is also found in the non-finite form of the Future I tense, in the Masdar (verbal noun), and in such converbs as the Purposives, the Resultative and the Future Absolute. The article attempts to link the semantic notions of futurity, potentiality, indefiniteness or general irrealis to the rhotic element and asks what might have been the historical development resulting in the forms attested today and thus their original morphological segmentation.

Abstract 15632: Phenotypic Overlap Between Left Ventricular Noncompaction and Hypertrophic Cardiomyopathy: A Case Report

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Ethan Senser ◽  
Madison Hawkins ◽  
Eric M Williams ◽  
Lauren Gilstrap
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Cardiac Mri ◽  
Genetic Diagnosis ◽  
Lateral Wall ◽  
Anterior Wall ◽  
Left Ventricular ◽  
Ventricular Noncompaction ◽  
History Of ◽  
Clinically Significant

Introduction: Left ventricular non-compaction (LVNC) is characterized by extensively trabeculaed myocardium adjacent to normal compacted myocardium of the left ventricle (LV). Hypertrophic cardiomyopathy (HCM) typically appears as diffuse or segmental LV hypertrophy, with or without outflow tract obstruction. Cardiac sarcomere mutations are present in most HCM cases and have also been identified in LVNC. Whether or not there is clinically significant phenotypic overlap between the two diseases is less well understood. We present a case of known HCM that met criteria for both LVNC and HCM by cardiac MRI. Case: A 49-year old man with HCM due to a c.3742_3759dup variant in MYBPC3 presented to clinic after an episode of syncope and ICD firing. In clinic, the device was interrogated and he was found to have had ventricular flutter which was successfully treated with one shock and a new, high (>20%) burden of premature ventricular beats. An echocardiogram showed a stable ejection fraction at 42%, mild concentric LV hypertrophy without obstruction and a newly dilated LV with an end diastolic diameter of 7.1cm (previously 6.2cm). A cardiac MRI was performed ( Figure ) and showed LV noncompaction and diffuse transmural and mid myocardial hyperenhancement/fibrosis of the septum, basilar lateral wall, anterior wall, and distal right ventricle consistent with patient's long-standing history of hypertrophic cardiomyopathy. Discussion: This case highlights the phenotypic overlap between HCM and LVNC by cardiac MRI. Had this patient not already carried a genetic diagnosis of HCM, he would likely have been diagnosed with LVNC based on this cardiac MRI. The phenotypic overlap in these diseases raises questions about ICD guidelines, the role of anticoagulation and prognosis.

scholarly journals A closed audit reviewing the electrocardiograms of patients presenting to the memory assessment team

BJPsych Open ◽  
2021 ◽  
Vol 7 (S1) ◽  
pp. S30-S30
Author(s):  
Joseph Heath ◽  
Maroulla Anderson ◽  
Jonathan Miles-Stokes
Keyword(s):  
Side Effects ◽  
Acetylcholinesterase Inhibitors ◽  
Left Ventricular ◽  
Cardiac Conduction ◽  
North West ◽  
Cardiac Side Effects ◽  
Memory Assessment ◽  
The North ◽  
Conduction Disorders ◽  
Clinically Significant

AimsTo review the ECGs of all patients referred to MAT services over the preceding 5 year period.BackgroundNeurodegenerative conditions such as Alzheimer's Disease can be treated with Acetylcholinesterase Inhibitors (AChEI) to slow down cognitive decline. Side effects of AChEIs include bradycardia, syncope and cardiac conduction disorders. An electrocardiograms (ECG) is completed prior to memory assessment team (MAT) medical assessments to screen for those who may be at risk of the cardiac side effects of AChEIs. ECGs may be included in the initial referral to the service or completed by the MAT. Given the predominantly elderly population referred to the MATs service, other incidental abnormalities are to be expected. Not all MAT referrals that are screened by memory nurses reach the threshold to be reviewed by the medical team and therefore not all ECGs are routinely reviewed, potentially missing clinically significant abnormalities.ResultA total of 1795 patients were identified as being referred to a single mental health unit in the North West on England over a five-year period. 781 (44%) of the patients had an ECG completed by the MAT, of which 452 (58%) showed an abnormality. Significant abnormalities that were previously unknown to the patients’ primary care provider include eight cases of Atrial Fibrillation (AF), four cases of Trifasciular Block, and 19 cases of Left Ventricular Hypertrophy (LVH). 64 (8%) of patients who had an ECG by the MAT had a bradycardia.ConclusionIn addition to identifying abnormalities that could interfere with memory medication, this audit showed that over half of the ECGs completed by the MAT had an atypical trace. Cardiology was consulted to identify which abnormalities were considered clinically significant and if not already known, the general practitioner (GP) was informed. A change in the local service means that all ECGs completed by the MAT are now screened at point of filling into the notes, so any future abnormalities are identified and followed up immediately.

Supplementary role of left ventricular global longitudinal strain for predicting sudden cardiac death in hypertrophic cardiomyopathy

2021 ◽  
Author(s):  
Hyun-Jung Lee ◽  
Hyung-Kwan Kim ◽  
Sang Chol Lee ◽  
Jihoon Kim ◽  
Jun-Bean Park ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Sudden Cardiac Death ◽  
Risk Score ◽  
Primary Endpoint ◽  
Cardiac Death ◽  
Longitudinal Strain ◽  
Global Longitudinal Strain ◽  
Left Ventricular ◽  
C Statistic

Abstract Aims We investigated the prognostic role of left ventricular global longitudinal strain (LV-GLS) and its incremental value to established risk models for predicting sudden cardiac death (SCD) in patients with hypertrophic cardiomyopathy (HCM). Methods and results LV-GLS was measured with vendor-independent software at a core laboratory in a cohort of 835 patients with HCM (aged 56.3 ± 12.2 years) followed-up for a median of 6.4 years. The primary endpoint was SCD events, including appropriate defibrillator therapy, within 5 years after the initial evaluation. The secondary endpoint was a composite of SCD events, heart failure admission, heart transplantation, and all-cause mortality. Twenty (2.4%) and 85 (10.2%) patients experienced the primary and secondary endpoints, respectively. Lower absolute LV-GLS quartiles, especially those worse than the median (−15.0%), were associated with progressively higher SCD event rates (P = 0.004). LV-GLS was associated with an increased risk for the primary endpoint, independent of the LV ejection fraction, apical aneurysm, and 2014 European Society of Cardiology (ESC) risk score [adjusted hazard ratio (aHR) 1.14, 95% confidence interval (CI) 1.02–1.28] or 2011 American College of Cardiology/American Heart Association (ACC/AHA) risk factors (aHR 1.18, 95% CI 1.05–1.32). LV-GLS was also associated with a higher risk for the composite secondary endpoint (aHR 1.06, 95% CI 1.01–1.12). The addition of LV-GLS enhanced the performance of the ESC risk score (C-statistic 0.756 vs. 0.842, P = 0.007) and the 2011 ACC/AHA risk factor strategy (C-statistic 0.743 vs. 0.814, P = 0.007) for predicting SCD. Conclusion LV-GLS is an important prognosticator in patients with HCM and provides additional information to established risk stratification strategies for predicting SCD.

Hypertrophic cardiomyopathy

2021 ◽  
pp. 629-644
Author(s):  
Nuno Cardim ◽  
Alexandra Toste ◽  
Robin Nijveldt
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Multimodality Imaging ◽  
Imaging Techniques ◽  
Genetic Diagnosis ◽  
Left Ventricular ◽  
Morphological Data ◽  
Clinical Settings ◽  
Functional Information ◽  
Clinical Questions

Imaging plays a major role in the evaluation of hypertrophic cardiomyopathy (HCM) patients, offering answers to clinical questions. Imaging techniques provide a broad spectrum of information, including morphological data, functional information, and ischaemia assessment, useful in many clinical settings of HCM. The clinical diagnosis of HCM is based on unexplained left ventricular hypertrophy (LVH) by imaging, though the role of genetic diagnosis has increased. A multimodality imaging (MMI) approach is encouraged in HCM. Each technique must be selected to provide solutions to the specific problems, avoiding duplicated data, and taking into account its technical characteristics, availability, benefits, risks, and costs.

scholarly journals P05 Involving patients in the discussion about results from the National Early Inflammatory Arthritis Audit

Rheumatology ◽  
2020 ◽  
Vol 59 (Supplement_2) ◽  
Author(s):  
Oliver Wade ◽  
Jack Loh ◽  
Joshua Withers ◽  
Sarah Fish ◽  
Elizabeth MacPhie
Keyword(s):  
Rheumatoid Arthritis ◽  
Inflammatory Arthritis ◽  
First Year ◽  
Quality Improvements ◽  
North West ◽  
Patient Support Group ◽  
Patient Pathway ◽  
The North ◽  
Early Inflammatory Arthritis

Abstract Background The National Early Inflammatory Arthritis Audit (NEIAA) has provided the opportunity for rheumatology services to benchmark the care they provide. It provides a mechanism to identify where services can make improvements and to raise awareness about inflammatory arthritis. We felt it important to share our results with patients and involve patients in the discussion about how we improve the service we deliver. This project outlines how we went about doing this. Methods Data submitted to the NEIAA online tool were downloaded for analysis. This included all patients recruited during the first year of the audit. Results were presented initially to the Rheumatology Multi-Disciplinary Team. Driver diagrams were developed by the team and areas for improvement identified. A patient poster for the waiting area was also developed. This provided information about our performance in the audit and what changes we were looking to make. Results, driver diagrams and the patient poster were then presented to our National Rheumatoid Arthritis Society (NRAS) patient support group at one of their lunchtime meetings. We met again two weeks later with members from the patient group to get feedback on the driver diagrams and patient poster. Results Results from the first year of the audit demonstrated that there was significant room for improvement across all seven quality standards. Driver diagrams identified areas for improvement across the whole patient pathway. Forty-five patients and carers attended the lunchtime meeting presentation. Patients identified various areas where they could get involved with improving the patient pathway. These included putting up posters in the community to raise awareness about rheumatoid arthritis and running another Rheumatoid Arthritis Awareness Day. Other proposals were to provide more lunchtime meetings to improve understanding about the condition and management and promote aspects of self-management and developing the role of the Expert Patient locally to support newly diagnosed patients. The patient poster received lots of positive comments, it was suggested that we remove any statistics which might cause alarm and be difficult to interpret and to focus on what quality improvements had already happened locally. Conclusion Involving patients in the discussion has been a fascinating and rewarding experience. Patients have been empowered and their input has been valued. Patients have provided additional suggestions as to how they can get involved to support the service and improve the patient pathway. The patient poster now tells a positive story and acknowledges our unsatisfactory performance in the first year of the audit and more importantly focuses on what we are doing to improve the service we deliver. Disclosures O. Wade None. J. Loh None. J. Withers None. S. Fish None. E. MacPhie Other; EM is the secretary of the North West Rheumatology Club; meetings are supported by an unrestricted educational grant from UCB.

NORTH WEST SHELF 3-D SEISMIC—A DECADE OF DEVELOPMENTS

1993 ◽  
Vol 33 (1) ◽  
pp. 315
Author(s):  
P.S. Vaughan
Keyword(s):  
Joint Venture ◽  
Spatial Sampling ◽  
Seismic Surveys ◽  
North West ◽  
The North ◽  
Technological Developments

Woodside as Operator, on behalf of three Joint Venture groups, over the last decade has acquired eight 3-D seismic surveys covering some 4 600 km2 over the Rankin Trend and Dampier Sub-Basin Production Licences and Exploration Permits on the North West Shelf of Australia. This area represents approximately 45 per cent coverage of the present Woodside operated acreage in the area. The acquisition, processing and interpretation technology and also the benefits derived from the 3-D technique have changed remarkably since the first North West Shelf 3-D survey in 1981. This paper focusses on the main technological developments in 3-D seismic, particularly involving multi-source and streamer technology, increased spatial sampling and interpretation techniques which have changed the role of 3-D seismic in Exploration strategies through the 1980s and into the 1990s.

Sign in / Sign up

Export Citation Format

Share Document