Bilateral Semilunar Valve Dysplasia in a Patient with Inverted Duplication 2p25–22

Here we report a patient with partial trisomy 2p and congenital dysplasia of the semilunar valves. To our knowledge, this is the first case of 2p duplication with developmental defects of both semilunar valves and suggests that genes on this region contribute to the formation of the semilunar valves...

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Veröffentlicht in:	Pediatric cardiology 2008, Vol.29 (1), p.172-175
Hauptverfasser:	Kochilas, L. K., Abuelo, D. N., Tantravahi, U.
Format:	Artikel
Sprache:	eng
Schlagworte:	Cardiac Surgery Cardiology Chromosome Inversion Chromosomes, Human, Pair 2 Female Gene Duplication Heart Septal Defects, Ventricular - diagnostic imaging Heart Septal Defects, Ventricular - genetics Heart Valve Diseases - genetics Heart Valves - diagnostic imaging Humans Infant, Newborn Medicine Medicine & Public Health Trisomy - genetics Ultrasonography Vascular Surgery
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Zusammenfassung:	Here we report a patient with partial trisomy 2p and congenital dysplasia of the semilunar valves. To our knowledge, this is the first case of 2p duplication with developmental defects of both semilunar valves and suggests that genes on this region contribute to the formation of the semilunar valves.
ISSN:	0172-0643 1432-1971
DOI:	10.1007/s00246-007-9013-2