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Last Posted: May 25, 2023
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Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathy.
Sophie L V M Stroeks et al. Eur J Hum Genet 2023 5

It was previously suggested that increasing the number of genes on diagnostic gene panels could increase the genetic yield in patient with dilated cardiomyopathy (DCM). We explored the diagnostic and prognostic relevance of testing DCM patients with an expanded gene panel. The current study included 225 consecutive DCM patients who had no genetic diagnosis after a 48-gene cardiomyopathy-panel. Overall, the use of large gene panels for genetic testing in DCM does not increase the diagnostic yield. Current diagnostic gene panels should be limited to the robust DCM-associated genes.

Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy
SLVM Stroeks et al, Circ Genomics & Prec Med, March 27, 2023

One hundred thirty-one likely pathogenic/pathogenic (LP/P) variants in robust DCM-associated genes were found in 685 patients with DCM (19.1%) genotyped for the robust genes. Three of the 131 patients had a second LP/P variant (2.3%). These 3 patients had a comparable disease onset, disease severity, and clinical course to patients with DCM with one LP/P.

Detection of subclinical hypertrophic cardiomyopathy.
George Joy et al. Nature reviews. Cardiology 2023 3

Hypertrophic cardiomyopathy (HCM) is defined by ventricular hypertrophy. However, the broader phenotype includes abnormal cardiomyocyte orientation (disarray), myocardial ischaemia and electrical abnormalities, which seem to manifest before overt hypertrophy. With advances in cascade genetic testing and novel therapeutic agents, the detection of subclinical HCM is a rapidly emerging priority. In this context, we outline the role of novel biomarkers, particularly quantitative perfusion and diffusion tensor MRI.

Approaches to Genetic Screening in Cardiomyopathies: Practical Guidance for Clinicians.
Amy R Kontorovich et al. JACC. Heart failure 2023 2 (2) 133-142

Patients and families benefit when the genetic etiology of cardiomyopathy is elucidated through a multidisciplinary approach including genetic counseling and judicious use of genetic testing. The yield of genetic testing is optimized when performed on a proband with a clear phenotype, and interrogates genes that are validated in association with that specific form of cardiomyopathy. Variants of uncertain significance are frequently uncovered and should not be overinterpreted.

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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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