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3/2017
vol. 92 abstract:
Case report
Large patent ductus arteriosus and left ventricular non-compaction as cardiac manifestations of 1p36 monosomy
Magdalena Mazurak
,
Jacek Kusa
,
Paweł Skiba
,
Robert Śmigiel
PEDIATRIA POLSKA 92 (2017) 321-324
Online publish date: 2018/03/07
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1p36 monosomy is one of the most common deletion syndromes. Cardiac diseases occurred in about 45–75% of affected individuals. However, there is only a few papers in cardiac journals concerning heart problems associated to this syndrome. We describe an infant with dysmorphic features and two different cardiac anomalies (patent ductus arteriosus and left ventricular non-compaction) in which monosomy 1p36 was recognized.
keywords:
1p36 deletion syndrome, Cardiomyopathy, Congenital heart defect |