January 1, 2007

Mutations in Cardiac T-Box Factor Gene TBX20 are associated with Diverse Cardiac Pathologies, Including Defects of Septation and Valvulogenesis and Cardiomyopathy

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Population

Humans with a family history of congenital heart disease and mouse models

Comparison

TBX20 germline mutations vs Wild-type TBX20

Design

Preclinical

Authors

EKEdwin P. KirkBoston Children's Hospital MSMargaret SundeThe University of Sydney MCMauro W. CostaGladstone Institutes

Discussion

Member takes

Implication

TBX20 mutations may warrant consideration in familial congenital heart disease; leaves open prevalence, causality, and screening utility pending human validation.

Structured PICO

Population

Humans with a family history of congenital heart disease and mouse models

Intervention

TBX20 germline mutations (nonsense Q195X and missense I152M)

Comparator

Wild-type TBX20

Outcome

Cardiac developmental anomalies (defects in septation, chamber growth, and valvulogenesis) and dilated cardiomyopathy

This study is the first to link TBX20 mutations to human cardiac pathology, including congenital heart disease and dilated cardiomyopathy.

Cite This Study

Kirk et al. (2007) studied this question.

synapsesocial.com/papers/6a82c20aaa66c98ddba0cf40 https://doi.org/10.1086/519530

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Implication

TBX20 mutations may warrant consideration in familial congenital heart disease; leaves open prevalence, causality, and screening utility pending human validation.