We report a series of patients attending a specialized cardiac genetic clinic with a putative loss-of-function FLNCtv. The phenotype is characterized by left-sided ACM in the presence of fibro-fatty infiltration of the myocardium with high risk of severe cardiac outcomes including end-stage heart failure and SCD. This [...]
As the availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately classify variants in inherited cardiac condition (ICC) genes, including secondary findings. We analyse evidence for inheritance patterns, allelic [...]
There is an incomplete understanding of the burden of splice-disrupting variants in definitively associated inherited heart disease genes and whether these genes can amplify from blood RNA to support functional confirmation of splicing outcomes. We performed burden testing of rare splice-disrupting variants in people with [...]
The diagnostic yield of genetic testing for inherited cardiac diseases is up to 40% and is primarily indicated for screening of at-risk relatives. Here, we evaluate the role of genomics in diagnosis and management among consecutive individuals attending a specialised clinic and identify those with [...]
Genetic testing for hypertrophic cardiomyopathy (HCM) is considered a key aspect of management. Communication of genetic test results to the proband and their family members, can be a barrier to effective uptake. We hypothesized that a communication aid would facilitate effective communication, and sought to [...]
Left ventricular non-compaction (LVNC) is characterised by a bi-layered myocardium, with excessive left ventricular (LV) trabeculation. Ongoing debate exists as to whether LVNC in adults is a distinct cardiomyopathy, or a morphological feature of ventricular remodelling present in physiological and pathological states. In this commentary, [...]
Preimplantation genetic diagnosis (PGD) ensures a disease-causing variant is not passed to the next generation, including for inherited heart diseases. PGD is known to cause significant emotional burden, but little is known about how parents experience PGD to select against inherited heart disease. We aim [...]