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Case Reports in Genetics
Volume 2015, Article ID 932651, 3 pages
Case Report

Different Cardiac Anomalies in Mother and Son with 4q-Syndrome

1Cardiology Department, Ospedali Riuniti Villa Sofia Cervello, 90100 Palermo, Italy
2Pediatric Clinic, Policlinico Universitario, Palermo, Italy

Received 10 June 2015; Revised 2 August 2015; Accepted 3 August 2015

Academic Editor: Philip D. Cotter

Copyright © 2015 Marcello Marcì et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


We report a female patient with asymptomatic cor triatriatum sinister, associated with 4q34.3 deletion. Her child, carrying the same imbalance, suffers from tetralogy of Fallot. To the best of our knowledge, this is the first reported case of cor triatriatum associated with deletion of the long arm of the chromosome 4; furthermore, the majority of patients with chromosome 4 long arm syndrome have de novo deletions and only few familial cases have been reported so far.