Ventricular septal defect and cardiomyopathy in mice lacking the transcription factor CHF1/HEY2

Yasuhiko Sakata, Caramai N. Kamei, Hironori Nakagami, Roderick Bronson, James K. Liao, Michael T. Chin

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147 Citations (Scopus)


Ventricular septal defects are common in human infants, but the genetic programs that control ventricular septation are poorly understood. Here we report that mice with a targeted disruption of the cardiovascular basic helix-loop-helix factor (CHF)1/Hey2 gene show isolated ventricular septal defects. These defects result primarily in failure to thrive. Mice often succumbed within the first 3 wk after birth and showed pulmonary and liver congestion. The penetrance of this phenotype varied, depending on genetic background, suggesting the presence of modifier genes. Expression patterns of other cardiac-specific genes were not affected. Of the few animals on a mixed genetic background that survived to adulthood, most developed a cardiomyopathy but did not have ventricular septal defects. Our results indicate that CHF1 plays an important role in regulation of ventricular septation in mammalian heart development and is important for normal myocardial contractility. These mice provide a useful model for the study of the ontogeny and natural history of ventricular septal defects and cardiomyopathy.

Original languageEnglish
Pages (from-to)16197-16202
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number25
Publication statusPublished - 2002 Dec 10
Externally publishedYes

ASJC Scopus subject areas

  • General


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