eISSN: 2300 - 8660
ISSN: 0031-3939
Pediatria Polska - Polish Journal of Paediatrics
Current issue Archive Manuscripts accepted About the journal Editorial board Abstracting and indexing Contact Instructions for authors Ethical standards and procedures
SCImago Journal & Country Rank

3/2017
vol. 92
 
Share:
Share:
more
 
 
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
View full text
Get citation
ENW
EndNote
BIB
JabRef, Mendeley
RIS
Papers, Reference Manager, RefWorks, Zotero
AMA
APA
Chicago
Harvard
MLA
Vancouver
 
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