Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.

Background: Cardiomyopathies are clinically important conditions, with a strong genetic component. National genomic initiatives such as 100,000 Genome Project (100KGP) provide opportunity to study these rare conditions at scale beyond conventional research studies.

Methods: We present the clinical and molecular characteristics of the 100KGP cohort, comparing paediatric and adult probands with diverse cardiomyopathies.

Positive Predictive Value of Computerized Tomography Coronary Angiography versus Computerized Tomography Fractional Flow Reserve in a Real-world Population.

Background: Computed Tomography coronary angiography and fractional flow reserve (CTCA and CT-FFR) are noninvasive diagnostic tools for the detection of flow-limiting coronary artery stenoses. Although their negative predictive values are well established, there is a concern that the high sensitivity of these tests may lead to overestimation of coronary artery disease (CAD) and unnecessary invasive coronary angiography (ICA). We compared the positive predictive value (PPV) of CT-FFR with computerized tomography coronary angiography (CTCA) against the gold standard of ICA in different real-world patient groups.