MyoKardia ’s Phase II trial for oHCM drug meets endpoints
MyoKardia has reported positive top-line results from the first cohort of its Phase II PIONEER-HCM clinical trial of mavacamten in patients with symptomatic, obstructive hypertrophic cardiomyopathy (oHCM).
PMID: 28819957 [PubMed - in process]
AbstractFor the past few decades, the transaortic septal myectomy (Morrow ’s procedure) has been the gold standard for treating severe left ventricular outflow tract obstruction in hypertrophic obstructive cardiomyopathy (HOCM) patients. 30-day mortality has been reported at less than 1% in dedicated centers. However, in a subgroup of patients, the interventricular sept al obstruction is localized very distally, below the aortic valve plane, and the transaortic approach can be very challenging. A subset of these patients can present with residual obstruction after surgery, due to inadequate length of septal excision,...
Condition: Hypertrophic Cardiomyopathy Intervention: Device: Insertable cardiac monitor Sponsors: Region Gävleborg; St. Jude Medical; Norrlands University Hospital Recruiting - verified August 2017
We report the clinical, morphological and molecular features of two patients with autosomal recessive SLC25A4 (ANT1) gene mutations. Furthermore, all previously published cases are reviewed to identify valuable features for future diagnosis. Patients present a common phenotype with exercise intolerance, hyperlactatemia, and hypertrophic cardiomyopathy. Muscle biopsies show wide sub-sarcolemmal mitochondrial aggregates, and increased activities of all respiratory chain complexes. The phenotype of recessive SLC25A4 (ANT1) mutations although rare, is homogenous and easily recognizable and could help orientate the molecular an...
Authors: Brochado B, Cabral S, Pinheiro-Vieira A, Carvalho H, Torres S PMID: 28803523 [PubMed - as supplied by publisher]
Condition: Cardiomyopathy, Hypertrophic Interventions: Drug: Sodium Nitrate; Drug: Placebo; Diagnostic Test: Phosphorous Magnetic Resonance Spectroscopy; Diagnostic Test: Exercise Stress Transthoracic Echocardiogram Sponsors: University of East Anglia; Norfolk and Norwich University Hospitals NHS Foundation Trust; British Medical Research Council Recruiting - verified August 2017
The objectives of this article are to review the genetic basis for HCM and discuss clinical presentations of HCM in adolescents, so that general practitioners: develop confidence in requesting investigations in adolescents with suspected or proven HCM consider early referral to a paediatric cardiology department for any adolescent with left ventricular hypertrophy understand family screening guidelines for HCM. DISCUSSION: HCM is a complex cardiac disease with marked heterogeneity. Management strategies should be individually tailored, including avoidance of competitive sports, but encouragement of lower intensity phy...
Conclusions— Men with classic or later-onset FD caused by GLA missense mutations developed prominent and similar cardiovascular disease at similar ages, despite markedly different α-GalA activities.
Publication date: Available online 10 August 2017 Source:Revista Española de Cardiología (English Edition) Author(s): Ares Pasipoularides