Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome.
Title | Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome. |
Publication Type | Journal Article |
Year of Publication | 2016 |
Authors | Vargiami, E., Ververi A., Al-Mutawa H., Gioula G., Gerou S., Rouvalis F., Kambouris M., & Zafeiriou D. I. |
Journal | Case Rep Genet |
Volume | 2016 |
Pagination | 3056053 |
Date Published | 2016 |
ISSN | 2090-6544 |
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. |
DOI | 10.1155/2016/3056053 |
Alternate Journal | Case Rep Genet |
PubMed ID | 27239352 |
PubMed Central ID | PMC4867054 |