Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 152A, Issue 1, Pages 191-195Publisher
WILEY
DOI: 10.1002/ajmg.a.33155
Keywords
deletion 1p36; left ventricular noncompaction; unclassified cardiomyopathy; 2D-TTE (two-dimensional transthoracic echocardiography)
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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. (C) 2009 Wiley-Liss, Inc.
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