Literature DB >> 20034097

Left ventricular noncompaction: a rare disorder in adults and its association with 1p36 chromosomal anomaly.

Harvinder S Dod1, Ravindra Bhardwaj, Marybeth Hummel, Anthony P Morise, Satdev Batish, Bradford E Warden, Robert J Beto, Abnash C Jain.   

Abstract

We report on a case of a 25-year-old male with 1p36 deletion syndrome, who was diagnosed with left ventricular noncompaction (LVNC). The association of this rare chromosomal abnormality with LVNC is reported in the pediatric literature, but it has not previously been specifically reported in adults. It is important to diagnose this unclassified cardiomyopathy in the adult population with this chromosomal abnormality for appropriate management and treatment as highlighted in our case.

Entities:  

Mesh:

Year:  2010        PMID: 20034097     DOI: 10.1002/ajmg.a.33155

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  1 in total

1.  Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints.

Authors:  Marzena Gajecka; Sulagna C Saitta; Andrew J Gentles; Lindsey Campbell; Karen Ciprero; Elizabeth Geiger; Anne Catherwood; Jill A Rosenfeld; Tamim Shaikh; Lisa G Shaffer
Journal:  Am J Med Genet A       Date:  2010-12       Impact factor: 2.802

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.