Ebstein Anomaly and Right Aortic Arch in Patient with Charge Syndrome

Ebstein anomaly is a rare congenital heart disease characterized by a varying degree of anatomical and functional abnormalities of tricuspid valve and right ventricle. It often coexists with other congenital cardiac malformations. Up to 79–89% of patients with Ebstein anomaly have interatrial commun...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Inguna Lubaua, Madara Teraudkalna
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	Ebstein anomaly right aortic arch congenital heart disease charge syndrome Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/07a75ca5f8bf40828a752c5883639a31
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:07a75ca5f8bf40828a752c5883639a31
record_format	dspace
spelling	oai:doaj.org-article:07a75ca5f8bf40828a752c5883639a312021-11-25T18:18:52ZEbstein Anomaly and Right Aortic Arch in Patient with Charge Syndrome10.3390/medicina571112391648-91441010-660Xhttps://doaj.org/article/07a75ca5f8bf40828a752c5883639a312021-11-01T00:00:00Zhttps://www.mdpi.com/1648-9144/57/11/1239https://doaj.org/toc/1010-660Xhttps://doaj.org/toc/1648-9144Ebstein anomaly is a rare congenital heart disease characterized by a varying degree of anatomical and functional abnormalities of tricuspid valve and right ventricle. It often coexists with other congenital cardiac malformations. Up to 79–89% of patients with Ebstein anomaly have interatrial communication in the form of patent oval foramen or atrial septal defect and more than one-third has other types of cardiac malformations. Association between Ebstein anomaly and right aortic arch is extremely rare and only few cases have been described in the literature so far. Much rarer than with other cardiac malformations, Ebstein anomaly is associated with non-cardiac malformations or genetic syndromes. Several cases of association between Ebstein anomaly and Charge syndrome have been reported, nevertheless, Ebstein anomaly accounts for less than 1% of cardiac defects seen in patients with Charge syndrome. In this case report, we present a unique case of a patient with Charge syndrome where both Ebstein anomaly and right aortic arch are present. The diagnosis of Ebstein anomaly and right aortic arch was established prenatally. In the first years of life, the patient did not exhibit any remarkable symptoms. However, over time, deterioration of right ventricle function and increased tricuspid regurgitation were observed, requiring consideration of surgical treatment at the age of five. In addition, delay in physical, motor, and mental development was observed and thus, at the age of five, the patient was consulted by a medical geneticist and a gene panel to test for structural heart defects was ordered. The test showed a mutation in chromodomain helicase DNA binding protein 7 (CHD7) gene, which, along with clinical features, allowed to establish a diagnosis of Charge syndrome. To the best of the authors’ knowledge, this is the first case report of a patient with Charge syndrome, Ebstein anomaly, and right aortic arch that has been described in the literature.Inguna LubauaMadara TeraudkalnaMDPI AGarticleEbstein anomalyright aortic archcongenital heart diseasecharge syndromeMedicine (General)R5-920ENMedicina, Vol 57, Iss 1239, p 1239 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Ebstein anomaly right aortic arch congenital heart disease charge syndrome Medicine (General) R5-920
spellingShingle	Ebstein anomaly right aortic arch congenital heart disease charge syndrome Medicine (General) R5-920 Inguna Lubaua Madara Teraudkalna Ebstein Anomaly and Right Aortic Arch in Patient with Charge Syndrome
description	Ebstein anomaly is a rare congenital heart disease characterized by a varying degree of anatomical and functional abnormalities of tricuspid valve and right ventricle. It often coexists with other congenital cardiac malformations. Up to 79–89% of patients with Ebstein anomaly have interatrial communication in the form of patent oval foramen or atrial septal defect and more than one-third has other types of cardiac malformations. Association between Ebstein anomaly and right aortic arch is extremely rare and only few cases have been described in the literature so far. Much rarer than with other cardiac malformations, Ebstein anomaly is associated with non-cardiac malformations or genetic syndromes. Several cases of association between Ebstein anomaly and Charge syndrome have been reported, nevertheless, Ebstein anomaly accounts for less than 1% of cardiac defects seen in patients with Charge syndrome. In this case report, we present a unique case of a patient with Charge syndrome where both Ebstein anomaly and right aortic arch are present. The diagnosis of Ebstein anomaly and right aortic arch was established prenatally. In the first years of life, the patient did not exhibit any remarkable symptoms. However, over time, deterioration of right ventricle function and increased tricuspid regurgitation were observed, requiring consideration of surgical treatment at the age of five. In addition, delay in physical, motor, and mental development was observed and thus, at the age of five, the patient was consulted by a medical geneticist and a gene panel to test for structural heart defects was ordered. The test showed a mutation in chromodomain helicase DNA binding protein 7 (CHD7) gene, which, along with clinical features, allowed to establish a diagnosis of Charge syndrome. To the best of the authors’ knowledge, this is the first case report of a patient with Charge syndrome, Ebstein anomaly, and right aortic arch that has been described in the literature.
format	article
author	Inguna Lubaua Madara Teraudkalna
author_facet	Inguna Lubaua Madara Teraudkalna
author_sort	Inguna Lubaua
title	Ebstein Anomaly and Right Aortic Arch in Patient with Charge Syndrome
title_short	Ebstein Anomaly and Right Aortic Arch in Patient with Charge Syndrome
title_full	Ebstein Anomaly and Right Aortic Arch in Patient with Charge Syndrome
title_fullStr	Ebstein Anomaly and Right Aortic Arch in Patient with Charge Syndrome
title_full_unstemmed	Ebstein Anomaly and Right Aortic Arch in Patient with Charge Syndrome
title_sort	ebstein anomaly and right aortic arch in patient with charge syndrome
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/07a75ca5f8bf40828a752c5883639a31
work_keys_str_mv	AT ingunalubaua ebsteinanomalyandrightaorticarchinpatientwithchargesyndrome AT madarateraudkalna ebsteinanomalyandrightaorticarchinpatientwithchargesyndrome
_version_	1718411300943429632

Ebstein Anomaly and Right Aortic Arch in Patient with Charge Syndrome

Ejemplares similares