CNR - Institute of Neuroscience CNR
Institute of Neuroscience


Genetic basis for cardiac development and susceptibility to heart disease

Recent results

  • We discovered a genetic interactions between Pitx2 and Di George syndrome candidate gene Tbx1. Pitx2 can thus be a genetic modifier of the cardiac phenotype in Di George patients (Nowotschin et al, 2006)
  • Analysis of a myocardial specific knock out (ko) of the Pitx2 gene. We found that Pitx2 exerts a differential role in the atria and the ventricles (Tessari et al., 2008).
    In the ventricles (Fig1):
    • Pitx2 is a key regulator of ventricular morphogenesis
    • Pitx2 promotes ventricular cardiomyocyte maturation
    • Loss of myocardial Pitx2 confers susceptibility to adult ventricular disease
  • In the atria (Fig.2):
    • Pitx2 confers left atrial morphological and molecular identity

Perspectives. Analysis of Pitx2 cellular role in heart development and disease Pitx2 as a gene responsible for atrial fibrillation: molecular mechanisms.


  • Tessari A, Pietrobon M, Notte A, Cifelli G, Gage PJ, Schneider MD, Lembo G, Campione M (2008) Myocardial Pitx2 differentially regulates the left atrial identity and ventricular asymmetric remodeling programs. Circ. Res. 102:813-22.
  • Aggarwal VS, Liao J, Bondarev A, Schimmang T, Lewandoski M, Locker J, Shanske A, Campione M, Morrow BE (2006) Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy. Hum. Mol. Genet. 15:3219-28.
  • Nowotschin S, Liao J, Gage PJ, Epstein JA, Campione M, Morrow BE (2006) Tbx1 affects asymmetric cardiac morphogenesis by regulating Pitx2 in the secondary heart field. Development 133:1565-73.
  • Campione M, Franco D, Kelly R (2006) Cardiovascular development: toward biomedical applicability. Dev. Dyn. 235:843-5.


no PI photo

Marina Campione

Contact information

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email  049 8276366

Participating staff