Mohammed Akhtar
A5042107039- Cardiomyopathy and Myosin Studies
- Acute Myocardial Infarction Research
- Cardiovascular Effects of Exercise
- Coronary Interventions and Diagnostics
- Cardiac Valve Diseases and Treatments
- Cardiac Imaging and Diagnostics
- Viral Infections and Immunology Research
- Trypanosoma species research and implications
- Infective Endocarditis Diagnosis and Management
- Sarcoma Diagnosis and Treatment
- Cardiac Structural Anomalies and Repair
- COVID-19 and healthcare impacts
- Health Systems, Economic Evaluations, Quality of Life
- Congenital heart defects research
- Cardiac pacing and defibrillation studies
- Urologic and reproductive health conditions
- Testicular diseases and treatments
- Antiplatelet Therapy and Cardiovascular Diseases
- Cardiovascular Function and Risk Factors
- Cardiac, Anesthesia and Surgical Outcomes
- Genomics and Rare Diseases
- Bladder and Urothelial Cancer Treatments
- Congenital Heart Disease Studies
- Cardiac tumors and thrombi
- Cardiac Arrhythmias and Treatments
Harefield Hospital
2018-2024
Guy's and St Thomas' NHS Foundation Trust
2012-2024
University College London
2017-2023
St Bartholomew's Hospital
2016-2023
Barts Health NHS Trust
2010-2023
University of Oxford
2023
Oxford BioMedica (United Kingdom)
2023
King's College Hospital
2022-2023
Royal Brompton & Harefield NHS Foundation Trust
2018-2023
King's College London
2023
Abstract Aims Myocardial scar detected by cardiovascular magnetic resonance has been associated with sudden cardiac death in dilated cardiomyopathy (DCM). Certain genetic causes of DCM may cause a malignant arrhythmogenic phenotype. The concepts left ventricular (LV) (ALVC) and are currently ill-defined. We hypothesized that distinctive imaging phenotype defines ALVC. Methods results Eighty-nine patients DCM-associated mutations [desmoplakin (DSP) n = 25, filamin C (FLNC) 7, titin 30, lamin...
Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by pathogenic variants in the α‐galactosidase A ( GLA ) gene that leads to reduced or undetectable enzyme activity and progressive accumulation of globotriaosylceramide its deacylated form globotriaosylsphingosine cells throughout body. FD can be multisystemic with neurological, renal, cutaneous cardiac involvement limited heart. Cardiac characterized hypertrophy, fibrosis, arrhythmias, heart failure sudden death. The...
Predictive genetic screening of relatives patients with hypertrophic cardiomyopathy (HCM) caused by sarcomere protein (SP) gene mutations is current standard care, but there are few data on long-term outcomes in mutation carriers without HCM.The aim this study was to determine the incidence new HCM diagnosis SP carriers.This a retrospective analysis adult and pediatric identified during family who did not fulfill diagnostic criteria for at first evaluation.The authors evaluated 285...
Transcatheter aortic valve implantation (TAVI) is a less invasive alternative to surgical replacement and the treatment of choice for patients at high operative risk. The role TAVI in lower risk unclear.To determine whether noninferior surgery moderately increased risk.In this randomized clinical trial conducted 34 UK centers, 913 aged 70 years or older with severe, symptomatic stenosis due age comorbidity were enrolled between April 2014 2018 followed up through 2019.TAVI using any CE mark...
Background: Truncating variants in the TTN gene (TTNtv) are commonest cause of heritable dilated cardiomyopathy. This study aimed to phenotypes and outcomes TTNtv carriers. Methods: Five hundred thirty-seven individuals (61% men; 317 probands) with were recruited 14 centers (372 [69%] baseline left ventricular systolic dysfunction [LVSD]). Baseline longitudinal clinical data obtained. The primary end point was a composite malignant arrhythmia end-stage heart failure. secondary reverse...
Abstract Aims The aim of this study was to determine the frequency heterozygous truncating ALPK3 variants (ALPK3tv) in patients with hypertrophic cardiomyopathy (HCM) and confirm their pathogenicity using burden testing independent cohorts family co-segregation studies. Methods results In a discovery cohort 770 index HCM, 12 (1.56%) were for ALPK3tv [odds ratio(OR) 16.11, 95% confidence interval (CI) 7.94–30.02, P = 8.05e−11] compared Genome Aggregation Database (gnomAD) population....
Eleven cases of sarcomatoid renal cell carcinoma were studied to determine the relative frequency various subtypes that may be associated with transformation. The epithelial components in these tumors subcategorized according established histologic criteria into chromophobe (n = 6 cases), clear 3), papillary 1), and indeterminate 1). In nine cases, material was available for immunohistochemical DNA ploidy studies. component all showed positivity membrane antigen cytokeratin, indicating an...
The genetic cause of hypertrophic cardiomyopathy remains unexplained in a substantial proportion cases. Formin homology 2 domain containing 3 (FHOD3) may have role the pathogenesis cardiac hypertrophy but has not been implicated cardiomyopathy. This study sought to investigate relation between FHOD3 mutations and development was sequenced by massive parallel sequencing 3,189 unrelated probands 2,777 patients with no evidence (disease control subjects). authors evaluated protein-altering...
Pathogenic variants in the filamin C (FLNC) gene are associated with inherited cardiomyopathies including dilated cardiomyopathy an arrhythmogenic phenotype. We evaluated FLNC (ACM) and investigated disease mechanism at a molecular level.120 gene-elusive ACM patients who fulfilled diagnostic criteria for right ventricular (ARVC) were screened by whole exome sequencing. Fixed cardiac tissue from variant carriers had died suddenly was histology immunohistochemistry.Novel or rare variants, four...
Truncating variants in the gene encoding filamin C (FLNCtv) are associated with arrhythmogenic and dilated cardiomyopathies a reportedly high risk of ventricular arrhythmia.To determine frequency factors adverse events among FLNCtv carriers compared individuals carrying TTN truncating (TTNtv).This cohort study recruited 167 consecutive control 244 patients TTNtv matched for left ejection fraction (LVEF) from 19 European cardiomyopathy referral units between 1990 2018. Data analyses were...
To analyse consecutive cases of robotic-assisted laparoscopic prostatectomy (RALP), present the incidence nerve-sparing-related positive surgical margins (SM+), include visual cues that might assist in smoothly changing to robotic platform, and discuss scientific rationale for 'intersensory integration' which explain 'reverse Braille' phenomenon, i.e. ability feel when vision is greatly enhanced, as lack tactile feedback during RALP often cited a disadvantage surgery, interfering with...
Objective Up to 50% of patients with hypertrophic cardiomyopathy (HCM) show no disease-causing variants in genetic studies. TRIM63 has been suggested as a candidate gene for the development cardiomyopathies, although evidence causative role HCM is limited. We sought investigate relationship between rare and HCM. Methods was sequenced by next generation sequencing 4867 index cases clinical diagnosis 3628 probands other cardiomyopathies. Additionally, 3136 familial cardiovascular diseases than...
At the time of diagnosis, approximately 75% bladder cancers are non-muscle invasive. Appropriate diagnosis and surgical resection at this stage improves prognosis dramatically. However, these lesions, being small and/or flat, often missed by conventional white-light cystoscopes. Furthermore, it is difficult to assess margin for negativity using Resultantly, recurrence rates in patients with early cancer very high. This currently addressed repeat cystoscopies biopsies, which can last...
Abstract Background Patients with ST-segment elevation typically feature total coronary occlusion (TCO) of the infarct-related artery (IRA) on angiography, which may result in worse outcomes. Yet, relying solely electrocardiogram (ECG) findings be misleading and those presenting non-ST-segment acute syndromes (NSTE-ACSs) have TCO as well. Herein, we aimed to delineate clinical characteristics outcomes patients ACS stratified by IRA location. Methods A 4787 were prospectively recruited...