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Author(s): Alexandros Protonotarios , Perry Elliott Added: 3 years ago
Until the 20th century, conventional medicine relied almost exclusively on observable characteristics to classify and treat human disease.1 Even in the modern era, physicians define diseases using phenotypic similarities and employ relatively simple algorithms to interpret diagnostic tools and plan treatment. The advent of low-cost genetic sequencing and its introduction into clinical care… View more
Author(s): Vibeke Marie Almaas , Jan Peder Amlie Added: 3 years ago
Hypertrophic cardiomyopathy (HCM) is a familial disease with a disease-causing mutation in the genes encoding structural components of the cardiac muscle sarcomere in about 60% of cases.1 In a general population of healthy young adults, the prevalence is 1:500.2 The penetrance is incomplete and age-related with a wide clinical spectrum.1 Many patients have normal life expectancy, some die… View more
Author(s): Milind Y Desai Added: 2 years ago
In this short summary interview, Dr Milind Y Desai (Cleveland Clinic, US) shares the findings from the VALOR-HCM trial (MyoKardia) (NCT04349072). This randomised, multicentre study was designed to assess the effect of mavacamten treatment on reducing the number of septal reduction therapy (SRT) procedures performed in subjects with symptomatic obstructive hypertrophic cardiomyopathy. Discussion… View more
Author(s): Ahmad Masri Added: 11 months ago
ESC-HFA 23 — We are joined by Dr Ahmad Masri (Oregon Health & Science University Medical Group, US) to discuss the findings from REDWOOD-HCM cohort 4 (NCT04219826). This study assessed the safety and tolerability of the selective inhibitor of cardiac myosin, aficamten (Cytokinetics) in patients with symptomatic nHCM. Cohort 4 included 41 patients. The data presented at HFA 23 shows that… View more
Author(s): Julian Gillmore Added: 1 year ago
AHA 2022 — Dr Julian Gillmore (University College London, London, UK) joins us to share the key findings from the CRISPR trial (NCT04601051). This phase 1 study was conducted to assess the safety, tolerability, pharmacokinetics (PK) and pharmacodynamics (PD) of NTLA-2001 in participants with hereditary transthyretin amyloidosis with cardiomyopathy (ATTRv-CM) or wild type cardiomyopathy (ATTRwt… View more
Author(s): Rachel Lampert , Michael Ackerman , Sharlene Day Added: 1 year ago
ACC.23/WCC—We are joined onsite by principal investigator Dr Rachel Lampert (Yale School of Medicine, US), Dr Sharlene Day (Penn Medicine, US) and Dr Michael Ackerman (Mayo Clinic, US) to discuss the late-breaking findings from the LIVE-HCM Study. In this trial, investigators aimed to determine the effects of lifestyle and exercise on the well-being of patients with hypertrophic cardiomyopathy … View more
Author(s): Maki Komiyama , Koji Hasegawa , Akira Matsumori Added: 3 years ago
The novel coronavirus disease (COVID-19) pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a public health emergency of international concern.1 The pandemic is ongoing, and the world is faced with the urgent task of minimising the mortality associated with COVID-19. Besides advanced age, risk factors for escalation of COVID-19 severity include underlying… View more
Author(s): Gianfranco Sinagra , Michele Moretti , Giancarlo Vitrella , et al Added: 3 years ago
According to the latest position statement of the European Society of Cardiology (ESC), cardiomyopathies (CMP) are defined as “myocardial disorders in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality”.1 CMP may be… View more