Article
A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p.
Human genetics - 1 Jan 2008
Wessels Marja W, De Graaf Bianca M, Cohen-Overbeek Titia E, Spitaels Silja E, de Groot-de Laat Lotte E, Ten Cate Folkert J, Frohn-Mulder Ingrid F M, de Krijger Ronald, Bartelings Margot M, Essed Nienke, Wladimiroff Jury W, Niermeijer Martinus F, Heutink Peter, Oostra Ben A, Dooijes Dennis, Bertoli-Avella Aida M, Willems Patrick J
Abstract excerpt
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...
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