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Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome
Euthymia Vargiami1, Athina Ververi1, Hamda Al-Mutawa2
11st Department of Pediatrics, Aristotle University of Thessaloniki, 54642 Thessaloniki, Greece.
Abstract:
Kleefstra syndrome is characterized by hypotonia, developmental delay, dysmorphic features, congenital heart defects, and so forth. It is caused by 9q34.3 microdeletions or EHMT1 mutations. Herein a 20-month-old girl with Kleefstra syndrome, due to a de novo subterminal deletion, is described. She exhibits a rare and complex cardiopathy, encompassing multiple coronary artery microfistulas, VSD/ASD, and PFO.
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