A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p

@article{Wessels2007ANS,
  title={A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p},
  author={Marja W. Wessels and Bianca M. de Graaf and Titia E Cohen-Overbeek and Silja E C Spitaels and Lotte de Laat and Folkert J. ten Cate and Ingrid F. M. Frohn-Mulder and Ronald R. de Krijger and Margot M. Bartelings and Nienke Essed and Jury W. Wladimiroff and Martinus F. Niermeijer and Peter Heutink and Ben A. Oostra and Dennis Dooijes and Aida M. Bertoli-Avella and Patrick J. Willems},
  journal={Human Genetics},
  year={2007},
  volume={122},
  pages={595-603}
}
We report a three-generation family with nine patients affected by a combination of cardiac abnormalities and left isomerism which, to our knowledge, has not been described before. The cardiac anomalies include non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. The laterality sequence anomalies include left bronchial isomerism, azygous continuation of the inferior vena cava, polysplenia and intestinal malrotation, all… CONTINUE READING
17 Citations
48 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 17 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 48 references

gestive linkage of situs inversus and other left – right axis anomalies to chromosome 6 p

  • E Vitale, V Brancolini, +8 authors B Casey
  • J Med Genet
  • 2001
Highly Influential
5 Excerpts

Similar Papers

Loading similar papers…