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We need a detailed phenome in the phenomenon of genetics and congenital heart disease

¹ Charité - Universitätsmedizin Berlin, Department of Molecular Cardiology, Campus Buch and Max-Delbrück Center for Molecular Medicine, Berlin, Germany
² German Heart Institute Berlin, Department of Congenital Heart Disease and Otto-Heubner Centrum, Charité Campus Virchow Klinikum, Berlin, Germany

Correspondence to:
Dr M G Posch¹, Charité - Universitätsmedizin Berlin, Department of Molecular Cardiology, Campus Buch and Max-Delbrück Center for Molecular Medicine, Wiltbergstr. 50, 13125 Berlin, Germany; maximilian.posch@charite.de]

The first 150 words of the full text of this article appear below.

In their interesting manuscript, Tomita-Mitchell et al present four novel GATA4 sequence variations as pathogenic substrates for congenital heart disease (CHD) in humans.¹ CHD is the most common birth defect and affects almost 1% of all newborns. With the substantial improvement in surgical approaches that has occurred over the past decades, the number of adults living with CHD has increased. This fact demands better insights into the genetics and heredity of CHD.

The authors identified a variety of synonymous variants with a potential effect on the translational kinetics of GATA4. Interestingly, all 18 CHD-associated synonymous sequence variants were exclusively found in patients with septal or conotruncal defects (excluding dextro transposition of the great arteries; D-TGA), which led to the conclusion that the genetic aetiology of D-TGA may be different from other conotruncal defects. We agree that there is growing evidence of the functional consequences of "silent" sequence variations . . . [Full text of this article]