Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome-Reference-Cited by-同舟云学术

Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome

Published:2016 Issue: Volume:2016 Page:1-5
ISSN:2090-6544
Container-title:Case Reports in Genetics
language:en
Short-container-title:Case Reports in Genetics

Author:

Vargiami Euthymia¹,Ververi Athina¹,Al-Mutawa Hamda²,Gioula Georgia³,Gerou Spyridon¹,Rouvalis Fotios¹,Kambouris Marios⁴,Zafeiriou Dimitrios I.¹

Affiliation:

1. 1st Department of Pediatrics, Aristotle University of Thessaloniki, 54642 Thessaloniki, Greece

2. Shafallah Medical Genetics Center, Doha, Qatar

3. 2nd Department of Microbiology, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece

4. Pathology-Genetics, Sidra Medical & Research Center, Doha, Qatar

Abstract

Kleefstra syndrome is characterized by hypotonia, developmental delay, dysmorphic features, congenital heart defects, and so forth. It is caused by 9q34.3 microdeletions orEHMT1mutations. 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.

Publisher

Hindawi Limited

Subject

General Medicine

Link

http://downloads.hindawi.com/journals/crig/2016/3056053.pdf

Reference21 articles.

1. Update on Kleefstra Syndrome

2. Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

3. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

4. Coronary Artery Fistula

5. Coronary artery fistula in the pediatric age group: A 19-year institutional experience

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