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Ann Thorac Surg 2007;84:2137. doi:10.1016/j.athoracsur.2007.06.103
© 2007 The Society of Thoracic Surgeons
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Correspondence

GATA4 as Candidate Gene for Pericardial Defects

Claudia Saffirio, MDa, Bruno Marino, MDa, Maria Cristina Digilio, MDb

a Department of Pediatrics, University of Rome "La Sapienza", Viale Regina Elena 324, Rome 00161, Italy
b Department of Medical Genetics, Bambino Gesù Hospital, Piazza S. Onofrio, 4, Rome 00165, Italy

(Email: bruno.marino{at}uniroma1.it; claudia.saffirio{at}gmail.com).

To the Editor:

The interesting article by Drury and colleagues [1] reports a patient with primum atrial septal defect with partial left pericardial defect and discusses the mechanisms of pericardial defect development.

The embryological mechanisms of pericardial development were correctly reported in this article in agreement with the recent literature [2]. However, the genetic causes of normal and abnormal development of the pericardium are still largely unknown.

A recent article reports the impaired mesenchymal cell function in GATA4 gene mutant mice leading to diaphragmatic hernia and heart, pericardial and lung defects [3]. GATA4 is a very important gene for the development of the heart, which is involved in the pathogenesis of familial atrial septal defect [4, 5], and it is the candidate gene for deletion 8p syndrome [6].

Among the heart defect associated with deletion 8p syndrome, we reported a patient with ostium secundum atrial septal defect with partial pericardial defect [7]; it is interesting to note the high frequency of atrial septal defect in this syndrome [7] and in patients with nonsyndromic pericardial defects [1]. In conclusion, we suggest that GATA4 gene should be considered a candidate gene for pericardial defects in humans based on the report in mice [3].


   References
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 References
 

  1. Drury NE, De Silva RJ, Hall RMO, Large SR. Congenital defects of the pericardium Ann Thor Surg 2007;83:1552-1553.[Abstract/Free Full Text]
  2. Sadler TW. Langman’s medical embriology9th ed.. Baltimore, MD: Lippincott Williams & Wilkins; 2004. pp. 216-217.
  3. Jay PY, Bielinska M, Erlich JM, et al. Impaired mesenchymal cell function in GATA4 mutant mice leads to diaphragmatic hernias and primary lung defects Develop Biol 2007;301:602-614.[Medline]
  4. Garg V, Kathiriya IS, Barnes R, et al. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5 Nature 2003;424:443-447.[Medline]
  5. Sarkozy A, Conti E, Neri C, et al. Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors J Med Genet 2005;42:e16.[Free Full Text]
  6. Giglio S, Graw SL, Gimelli G, et al. Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects Circulation 2000;102:432-437.[Abstract/Free Full Text]
  7. Digilio MC, Marino B, Guccione P, Giannotti A, Mingarelli R, Dalla Piccola B. Deletion 8p syndrome Am J Med Genet 1998;75:534-536.[Medline]



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N. E. Drury and S. R. Large
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Ann. Thorac. Surg., December 1, 2007; 84(6): 2137 - 2137.
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