19 research outputs found
Fingertip digital thermal monitoring: a fingerprint for cardiovascular disease?
Cardiac Dysfunction and Arrhythmia
Use of the anterior-posterior chest diameter in CT: reduction in radiation dose?
Vascular Biology and Interventio
Cardiac resynchronization therapy; the importance of evaluating cardiac metabolism
Cardiac Dysfunction and Arrhythmia
Increased accuracy in computed tomography coronary angiography; a new body surface area adapted protocol
Vascular Biology and Interventio
Evidence of scar tissue: contra-indication to cardiac resynchronization therapy?
Ventricular Dysfunction & Heart Failur
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel
Purpose Integrating genomic sequencing in clinical care requires standardization of variant interpretation practices. The Clinical Genome Resource has established expert panels to adapt the American College of Medical Genetics and Genomics/Association for Molecular Pathology classification framework for specific genes and diseases. The Cardiomyopathy Expert Panel selected MYH7, a key contributor to inherited cardiomyopathies, as a pilot gene to develop a broadly applicable approach. Methods: Expert revisions were tested with 60 variants using a structured double review by pairs of clinical and diagnostic laboratory experts. Final consensus rules were established via iterative discussions. Results: Adjustments represented disease-/gene-informed specifications (12) or strength adjustments of existing rules (5). Nine rules were deemed not applicable. Key specifications included quantitative frameworks for minor allele frequency thresholds, the use of segregation data, and a semiquantitative approach to counting multiple independent variant occurrences where fully controlled case-control studies are lacking. Initial inter-expert classification concordance was 93%. Internal data from participating diagnostic laboratories changed the classification of 20% of the variants (n = 12), highlighting the critical importance of data sharing. Conclusion: These adapted rules provide increased specificity for use in MYH7-associated disorders in combination with expert review and clinical judgment and serve as a stepping stone for genes and disorders with similar genetic and clinical characteristics
Gated myocardial SPECT imaging; true additional value in AMI?
Vascular Biology and Interventio