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Images in Cardiovascular Ultrasound
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A Rare Case of Left Ventricular Noncompaction in LEOPARD Syndrome
kyehwan kim*, Min Gyu Kang, Hyun Woong Park, Jin-Sin Koh, Jeong-Rang Park, Seok-Jae Hwang, Jin-Yong Hwang*
Gyeongsang National University Hospital Division of cardiology, internal medicine
Corresponding Author: kyehwan kim ,Tel: 0557508469, Email: nicol2000@nate.com
ABSTRACT
LEOPARD syndrome (LS) is a rare autosomal dominant genetic disorder associated with PTPN11 gene mutation, encoding protein-tyrosine phosphatase (SHP2). It is known that cardiac manifestations of LS are important for the clinical outcomes, which include hypertrophic cardiomyopathy, pulmonary stenosis, valvular defects, coronary abnormalities, and abnormal findings on electrocardiogram. However, the occurrence of left ventricular non-compaction (LVNC) in patients with LS has rarely been reported. We report a case of a very rare cardiac manifestation of LVNC in a patient with LS associated with PTPN11 mutation.
Keywords: LEOPARD syndrome, Left ventricular non-compaction, Atrial fibrillation, PTPN11
Volume 26, No 1
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