The frequency and efficacy of genetic testing in individuals with scimitar syndrome.

ABSTRACT:

Background

Scimitar syndrome is a rare CHD composed of partial anomalous pulmonary venous connection from the right lung, via a scimitar vein, to the inferior vena cava rather than the left atrium. Genetic conditions associated with scimitar syndrome have not been well investigated at present.

Methods

Our study included patients with scimitar syndrome diagnosed at Texas Children's Hospital from January 1987 to July 2020. Medical records were evaluated to determine if genetic testing was performed, including chromosomal microarray analysis or whole-exome sequencing. Copy number variants identified as pathogenic/likely pathogenic and variants of unknown significance were collected. Analyses of cardiac and extracardiac findings were performed via chart review.

Results

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SUBMITTER: Fick TA 

PROVIDER: S-EPMC8988429 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature