The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic.

ABSTRACT:

Background

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 the highest likelihood of having a monogenic disease.

Methods

A retrospective audit of 1697 consecutive, unrelated probands referred to a specialised, multidisciplinary clinic between 2002 and 2020 was performed. A concordant clinical and genetic diagnosis was considered solved. Cases were classified as likely monogenic based on a score comprising a positive family history, young age at onset, and severe phenotype, whereas low-scoring cases were considered to have a like

SUBMITTER: Stafford F 

PROVIDER: S-EPMC9795753 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature