Key result
A 25-year-old male with 1p36 deletion syndrome was diagnosed with left ventricular noncompaction, highlighting a rare association in adults.
Case Report (n=1)
This case highlights the importance of screening for left ventricular noncompaction in adults with 1p36 deletion syndrome.
May warrant consideration of screening in adults with 1p36 deletion syndrome; hypothesis-generating and requires confirmation before changing practice.
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.
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Dod et al. (2009) conducted a case report in Left ventricular noncompaction and 1p36 deletion syndrome (n=1). 1p36 deletion syndrome was evaluated on Diagnosis of left ventricular noncompaction. A 25-year-old male with 1p36 deletion syndrome was diagnosed with left ventricular noncompaction, highlighting a rare association in adults.
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