Key result
Mutations in genes encoding embryonic cardiac myofibrillar proteins are an important genetic cause of congenital heart disease, highlighting the role of myofibril contraction and mechanotransduction.
Highlights the emerging role of myofibrillar protein mutations and mechanotransduction in the pathogenesis of congenital heart disease.
May inform genetic evaluation in congenital heart disease; leaves open prospective validation of mechanotransduction mechanisms.
Congenital heart disease (CHD) is the most common birth defect in humans. It is a leading infant mortality factor worldwide, caused by defective cardiac development. Mutations in transcription factors, signalling and structural molecules have been shown to contribute to the genetic component of CHD. Recently, mutations in genes encoding myofibrillar proteins expressed in the embryonic heart have also emerged as an important genetic causative factor of the disease, which implies that the contraction of the early heart primordium contributes to its morphogenesis. This notion is supported by increasing evidence suggesting that not only contraction but also formation, mechanosensing, and mechanotransduction of the cardiac myofibrillar proteins influence heart development. In this paper, we summarize the genetic clues supporting this idea.
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Granados-Riveron et al. (2012) conducted a review in Congenital heart disease. Mutations in genes encoding myofibrillar proteins was evaluated. Mutations in genes encoding embryonic cardiac myofibrillar proteins are an important genetic cause of congenital heart disease, highlighting the role of myofibril contraction and mechanotransduction.
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