Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports

Yasuda, Kazushi; Morihana, Eiji; Fusazaki, Naoki; Ishikawa, Shiro

doi:10.1155/2016/8013530

Cited by 3 publications

(3 citation statements)

References 14 publications

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“…CHARGE in which a mutation of the CHD7 gene is observed in two thirds of patients is also concerned. 36 The latter condition includes coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia and ear anomalies. 14 Various maternal risk factors indexed in literature can also induce the TAC.…”

Section: Discussionmentioning

confidence: 99%

Truncus arteriosus communis: report of three cases and review of literature

Poaty¹,

Pelluard²,

André³

et al. 2018

Afr H. Sci.

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BackgroundTruncus arteriosus communis (TAC) is a congenital heart defect in which the physiologic arterial common trunk was not divided into aorta and pulmonary artery trunk.ObjectivesIn this paper, we report on three observed cases from which we looked for (in conjunction with literature review) the different causes of TAC many of which have genetic origins.MethodsWe collected three clinical files of fetuses having a TAC. Two of them were examinated after a medical termination of pregnancy motivated by severe cardiopathy. The malformation had been diagnosed based on different techniques: echocardiography, skeletal radiography, arteriography, fetal autopsy, karyotype and fluorescence in situ hybridization (FISH).ResultsImaging and fetopathological examination revealed the presence of TAC type 3 and 4 in the Van Praaghs classification. FISH analysis showed a 22q11.2 deletion in one fetus in favour of Digeorge syndrome. The karyotype analysis performed in two cases was normal.ConclusionTruncus arteriosus is a rare pathology caused by numerous etiologies from which many of them have genetic origin. This malformation can be diagnosed early during prenatal period. Postmortem fetopathological examination allows a better diagnosis approach and eventually a genetic counseling in recurrent cases such as case of consanguinity.

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Section: Discussionmentioning

confidence: 99%

Truncus arteriosus communis: report of three cases and review of literature

Poaty¹,

Pelluard²,

André³

et al. 2018

Afr H. Sci.

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show abstract

“…CHARGE syndrome affects multiple organ systems and is an acronym for coloboma, heart defects, atresia choanae, growth and mental retardation, genital abnormalities, and ear abnormalities [65]. The most common CHD associated with CHARGE is TOF, detected in approximately 33% of human cases, followed by VSD and aortic arch abnormalities, suggesting that NC development is possibly affected during embryogenesis [66].…”

Section: Charge Syndromementioning

confidence: 99%

The Cardiac Neural Crest Cells in Heart Development and Congenital Heart Defects

Erhardt

Zheng

Zhao

et al. 2021

JCDD

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The neural crest (NC) is a multipotent and temporarily migratory cell population stemming from the dorsal neural tube during vertebrate embryogenesis. Cardiac neural crest cells (NCCs), a specified subpopulation of the NC, are vital for normal cardiovascular development, as they significantly contribute to the pharyngeal arch arteries, the developing cardiac outflow tract (OFT), cardiac valves, and interventricular septum. Various signaling pathways are shown to orchestrate the proper migration, compaction, and differentiation of cardiac NCCs during cardiovascular development. Any loss or dysregulation of signaling pathways in cardiac NCCs can lead to abnormal cardiovascular development during embryogenesis, resulting in abnormalities categorized as congenital heart defects (CHDs). This review focuses on the contributions of cardiac NCCs to cardiovascular formation, discusses cardiac defects caused by a disruption of various regulatory factors, and summarizes the role of multiple signaling pathways during embryonic development. A better understanding of the cardiac NC and its vast regulatory network will provide a deeper insight into the mechanisms of the associated abnormalities, leading to potential therapeutic advancements.

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“…CHARGE syndrome or Hall-Hittner syndrome is a pleiotropic disorder, in which the name is derived from the abbreviation epitomizing its six clinical criteria: ocular coloboma, cardiac defects, choanal atresia, growth or developmental retardation, genital hypoplasia, and ear anomalies or deafness [1]. CHARGE syndrome was initially described as a non-random group of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness).…”

Section: Introductionmentioning

confidence: 99%

Untitled

2021

IJHMS

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Rationale: CHARGE syndrome or Hall-Hittner syndrome is a pleiotropic disorder, in which the name is derived from the abbreviation epitomizing its six clinical criteria: ocular coloboma, cardiac defects, choanal atresia, growth or developmental retardation, genital hypoplasia, and ear anomalies or deafness. Wolff-Parkinson-White syndrome is the most frequent pattern of ventricular pre-excitation. Patent ductus arteriosus is one of the most frequent congenital heart diseases due to failure of closure of the ductus arteriosus within 72 hours of birth. CHARGE syndrome, Wolff-Parkinson-White syndrome, and patent ductus arteriosus are so difficult to be present in a single entity. Patient concerns: A young female girl patient presented to the physician's outpatient clinic with acute confusion status with a past repaired patent ductus arteriosus. Diagnosis: CHARGE syndrome hallmarked with Wolff-Parkinson-White syndrome and patent ductus arteriosus; 20 years post-repairing. Interventions: Plain chest x-ray, electrocardiography, oxygenation, and echocardiography. Outcomes: A dramatic clinical improvement post-oxygenation had happened. Lessons: CHARGE syndrome with Wolff-Parkinson-White syndrome and repaired patent ductus arteriosus is an extreme combination. The existence of infantile electrocardiographic Tee-Pee sign of hypocalcemia and adult low ionized calcium with CHARGE syndrome is highly suggestive of associated DiGeorge phenotype syndrome. An absence of tachycardia post-repairing of patent ductus arteriosus from 11 mo until the 20 th -year-old is a good prognostic sign. The presence of an infantile T-wave alternance will strengthen both the risk of serious arrhythmia and the efficacy of patent ductus arteriosus repairing.

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Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports

Cited by 3 publications

References 14 publications

Truncus arteriosus communis: report of three cases and review of literature

Truncus arteriosus communis: report of three cases and review of literature

The Cardiac Neural Crest Cells in Heart Development and Congenital Heart Defects

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