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• W4285118066 abstract "The Elusive Hearts Study aims to develop a national cohort of individuals with rare suspected monogenic cardiovascular diseases and to obtain a genetic diagnosis for gene-elusive families who have exhausted other avenues for genetic testing. A pilot study was conducted in 15 families with a child diagnosed with an inherited arrhythmia syndrome, in whom the underlying genetic cause had not been identified. Genome sequencing was performed (trios where available) and a tiered interpretation approach applied to identify candidate variants. Analysis is ongoing, however our findings to date include a de novo likely pathogenic variant in CALM2 in an 8-year-old child with an uncertain catecholaminergic polymorphic ventricular cardiomyopathy (CPVT) clinical diagnosis. This is a gene only recently included in gene panels, and so was missed from prior clinical genetic testing. A second family with familial sinus node disease and sudden cardiac death <35 years had a rare missense variant in ACTN2 identified. This gene was initially described in 2010 but associated with a hypertrophic cardiomyopathy phenotype. Additional case data from an additional Dutch family may expand the phenotypic spectrum of ACTN2-disease and will provide a much-needed answer for this family. A systematic approach utilising genome sequencing can identify a cause of disease in two pilot cases. The Elusive Hearts Study will expand nationally, with a focus on supporting patients from diverse ancestry groups, with the goal to provide a genetic diagnosis for families with suspected monogenic cardiovascular disease." @default.
• W4285118066 created "2022-07-14" @default.
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• W4285118066 date "2022-01-01" @default.
• W4285118066 modified "2023-10-16" @default.
• W4285118066 title "The Elusive Hearts Study: Seeking Genetic Diagnoses in Gene-elusive Cases of Rare Monogenic Cardiovascular Diseases" @default.
• W4285118066 doi "https://doi.org/10.1016/j.hlc.2022.04.036" @default.
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