A Rare Case of Vascular Ring and Coarctation of the Aorta in Association with CHARGE Syndrome

A male neonate presented with CHARGE syndrome, a multiorgan genetic disorder involving the Coloboma of the eyes, congenital Heart defects, nasal choanal Atresia, growth and development Retardation, Genitourinary disorders, and Ear anomalies and deafness. Moreover, he had a rare case of vascular ring—consisting of a right aortic arch with retroesophageal brachiocephalic artery—combined with coarctation of the mid-aortic arch. He underwent both vascular ring and aortic arch repair at our institution. To our knowledge, this is the 4th documented case of this exceedingly rare type of aortic arch anomaly combined with aortic arch obstruction. Moreover, it is the first confirmed case of these combined disorders occurring in CHARGE syndrome. This report describes a truly rare case and reveals the limitations of echocardiography in detecting complex aortic arch anomalies while illustrating the benefits of advanced imaging prior to surgical intervention.

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Prenatal Sonographic Features of CHARGE Syndrome

Diagnostics ◽

10.3390/diagnostics11030415 ◽

2021 ◽

Vol 11 (3) ◽

pp. 415

Author(s):

Kuntharee Traisrisilp ◽

Wisit Chankhunaphas ◽

Rekwan Sittiwangkul ◽

Chureerat Phokaew ◽

Vorasuk Shotelersuk ◽

...

Keyword(s):

De Novo ◽

Heart Defects ◽

Molecular Genetic ◽

Choanal Atresia ◽

Charge Syndrome ◽

Acoustic Stimulation ◽

Genetic Mutation ◽

Suspected Case ◽

Autosomal Dominant Disorder ◽

Canal Stenosis

CHARGE syndrome is a rare autosomal dominant disorder, associated with coloboma (C), heart defects (H), choanal atresia (A), retardation of growth and/or central nervous system (R), genitourinary anomalies (G) and ear abnormalities (E). Prenatal diagnosis of the syndrome is very rare but may be suspected when a combination of such abnormalities is identified. We describe a prenatally suspected case of CHARGE syndrome due to unique findings of cardiac defects (DORV) in combination with minor clues, including a structurally malformed ear with persistent non-response to an acoustic stimulation (which has never been prenatally described elsewhere), renal malrotation and growth restriction. Postnatal diagnosis was made based on confirmation of the prenatal findings and additional specific findings of bilateral coloboma, choanal atresia and ear canal stenosis. Finally, molecular genetic testing by whole exome sequencing of the neonate and her parents revealed a novel de novo heterozygous frameshift c.3506_3509dup variant in the CHD7 gene, confirming the clinical diagnosis of CHARGE syndrome. In conclusion, we describe unique prenatal features of CHARGE syndrome. Educationally, this is one of the rare examples of CHARGE syndrome, comprising all of the six specific anomalies as originally described; it is also supported by the identification of a specific genetic mutation. The identified genetic variant has never been previously reported, thereby expanding the mutational spectrum of CHD7. Finally, this case can inspire prenatal sonographers to increase awareness of subtle or minor abnormalities as genetic sonomarkers.

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Kommerell’s Diverticulum With a Twist: A Case of Recurrent Wheeze in an 8-Year-Old Boy

Global Pediatric Health ◽

10.1177/2333794x19897506 ◽

2019 ◽

Vol 6 ◽

pp. 2333794X1989750

Author(s):

Tiffany Amber Robles ◽

Aditya Srinivasan ◽

Lynnette Mazur ◽

Anand Gourishankar

Keyword(s):

Aortic Arch ◽

Pediatric Patient ◽

Respiratory Symptoms ◽

Vascular Ring ◽

Anatomical Variant ◽

Vascular Abnormalities ◽

Aortic Arch Anomaly ◽

Asthma Exacerbations ◽

Kommerell’S Diverticulum ◽

Recurrent Wheeze

Kommerell’s diverticulum is a rare, congenital aortic arch anomaly, usually associated with other vascular abnormalities. When present with a concurrent right-sided aortic arch and an aberrant subclavian artery, this triad can form a vascular ring that encompasses the trachea and esophagus. This anatomical variant is usually asymptomatic but can present with respiratory symptoms due to compression of the trachea. In this report, we discuss a case of a Kommerell’s diverticulum, which presented as frequent and recurring asthma exacerbations in a pediatric patient.

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Surgical Management of Right Aortic Arch Obstruction Associated With Rare Form of Vascular Ring

World Journal for Pediatric and Congenital Heart Surgery ◽

10.1177/2150135119885893 ◽

2020 ◽

Vol 11 (2) ◽

pp. 222-225

Author(s):

Evgeny V. Krivoshchekov ◽

Frank Cetta ◽

Oleg A. Egunov ◽

Evgenii A. Sviazov ◽

Valeriy O. Kiselev ◽

...

Keyword(s):

Aortic Arch ◽

Surgical Management ◽

Rare Case ◽

Vascular Ring ◽

Right Aortic Arch ◽

Rare Form ◽

Descending Aorta ◽

Arch Obstruction ◽

Right Descending Aorta

This clinical case demonstrated surgical management for a rare case of vascular ring associated with an elongated and kinked aortic arch and a right descending aorta in a ten-year-old male using an extra-anatomic bypass grafting method and dividing the vascular ring. Computer tomography performed at six-month follow-up showed a favorable surgical outcome.

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Obstructive Sleep Apnea in a Patient with CHARGE Syndrome

Case Reports in Otolaryngology ◽

10.1155/2012/907032 ◽

2012 ◽

Vol 2012 ◽

pp. 1-3 ◽

Cited By ~ 2

Author(s):

Carrie-Lee Trider ◽

Kim Blake

Keyword(s):

Obstructive Sleep Apnea ◽

Sleep Apnea ◽

Cranial Nerve ◽

Genetic Disorder ◽

Treatment Options ◽

Choanal Atresia ◽

Charge Syndrome ◽

Physical Symptoms ◽

Obstructive Sleep

CHARGE syndrome is a genetic disorder characterized by choanal atresia, coloboma of the eye, and ear and cranial nerve abnormalities. We report a child with CHARGE syndrome and obstructive sleep apnea. We highlight difficulties in discerning obstructive sleep apnea-related symptoms from typical features of CHARGE syndrome. Treatment options are discussed with regard to our patient. Tonsillectomy and adenoidectomy improved physical symptoms of obstructive sleep apnea in the patient.

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Ebstein Anomaly and Right Aortic Arch in Patient with Charge Syndrome

Medicina ◽

10.3390/medicina57111239 ◽

2021 ◽

Vol 57 (11) ◽

pp. 1239

Author(s):

Inguna Lubaua ◽

Madara Teraudkalna

Keyword(s):

Case Report ◽

Right Ventricle ◽

Aortic Arch ◽

Heart Defects ◽

Charge Syndrome ◽

Right Aortic Arch ◽

Genetic Syndromes ◽

Ebstein Anomaly ◽

Cardiac Malformations ◽

First Case

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.

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Major heart defects: the diagnostic evaluations of first-year-olds

BMC Pediatrics ◽

10.1186/s12887-021-02997-2 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Jan Pavlicek ◽

Eva Klaskova ◽

Sabina Kapralova ◽

Alzbeta Moravova Palatova ◽

Alicja Piegzova ◽

...

Keyword(s):

Septal Defect ◽

Clinical Symptoms ◽

Heart Defects ◽

Genetic Disorder ◽

Coarctation Of The Aorta ◽

Normal Karyotype ◽

Maternity Hospital ◽

Individual Risk ◽

First Year ◽

Heart Murmur

Abstract Background Severe or critical congenital heart defects (CHDs) constitute one third of the heart defect cases detected only after birth. These prenatally unrecognised defects usually manifest as cyanotic or acyanotic lesions and are diagnosed postnatally at various times. The aim of the study was to identify their clinical symptoms and determine individual risk periods for CHD manifestation. Methods Data were assessed retrospectively based on a cohort of patients born between 2009 and 2018 in a population of 175,153 live births. Occurrence of the first symptoms of CHD was classified into: early neonatal (0–7 days), late neonatal (8–28 days), early infancy (1–6 months), or late infancy (6–12 months). The first symptom for which the child was referred to a paediatric cardiologist was defined as a symptom of CHD. Results There were 598 major CHDs diagnosed in the studied region, 91% of which were isolated anomalies. A concomitant genetic disorder was diagnosed in 6% of the cases, while 3% presented extracardiac pathology with a normal karyotype. In total, 47% (282/598) of all CHDs were not identified prenatally. Of these, 74% (210/282) were diagnosed as early neonates, 16% (44/282) as late neonates, and 10% (28/282) as infants. The most common symptoms leading to the diagnosis of CHD were heart murmur (51%, 145/282) and cyanosis (26%, 73/282). Diagnosis after discharge from the hospital occurred in 12% (72/598) of all major CHDs. Ventricular septal defect and coarctation of the aorta constituted the majority of delayed diagnoses. Conclusions In conclusion, murmur and cyanosis are the most common manifestations of prenatally undetected CHDs. Although most children with major CHDs are diagnosed as neonates, some patients are still discharged from the maternity hospital with an unidentified defect.

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Persistent wheezing along with apparent stridor caused by a rare anomaly: double aortic arch

Tropical Doctor ◽

10.1177/0049475520959902 ◽

2020 ◽

pp. 004947552095990

Author(s):

Şule Gökçe ◽

Nüsabe Abdullayeva ◽

Feyza Koç ◽

Hüseyin Hüdaver Alper

Keyword(s):

Aortic Arch ◽

Vascular Ring ◽

Common Type ◽

Double Aortic Arch ◽

Abnormal Development ◽

Vascular Rings ◽

Aortic Arch Anomaly ◽

Rare Anomaly

Vascular rings are rare anomalies that occur as a result of abnormal development of the aortic arch complex, often manifested by signs of tracheo-oesophageal compression during the infant period. A double aortic arch anomaly is the most common type of vascular ring pathology. Here we report a case presenting with wheezing and stridor in a 10-month-old child.

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Is the One Ray Normal or Are the Rest Shorter?: Brachymetapody—A Case Report

Journal of the American Podiatric Medical Association ◽

10.7547/20-023 ◽

2020 ◽

Vol 110 (6) ◽

Author(s):

Yakup Ekinci ◽

Kaan Gürbüz ◽

Mustafa Arık ◽

Sabri Batın

Keyword(s):

Case Report ◽

Rare Case ◽

Genetic Disorder ◽

Proximal Phalanx ◽

Rare Type ◽

Double Osteotomy ◽

History Of ◽

The One ◽

Distorted Body Image

In this case report, we present the case of a 20-year-old male patient who suffered from pain in walking clinically, and in whom an extremely rare type of brachymetatarsia was diagnosed. Although distorted body image is the main reason for consulting a specialist, the patient presented because he was unable to find a proper shoe. The patient had no familial history of brachydactyly, trauma, or a genetic disorder. In this extremely rare case, the decision was made to perform shortening of the normal foot ray with a double osteotomy to the metatarsal and proximal phalanx. At the end of the follow-up period, the patient was walking pain-free and had no limitation in shoe choice.

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An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome

Journal of Pediatric Genetics ◽

10.1055/s-0039-1701020 ◽

2020 ◽

Author(s):

Jason L. Williams ◽

Marie T. McDonald ◽

Bryce A. Seifert ◽

Kristen L. Deak ◽

Catherine W. Rehder ◽

...

Keyword(s):

Aortic Arch ◽

Venous Return ◽

Heart Defects ◽

Genetic Defect ◽

Coarctation Of The Aorta ◽

Interrupted Aortic Arch ◽

Aberrant Right Subclavian Artery ◽

Cat Eye Syndrome ◽

Arch Obstruction ◽

Anomalous Pulmonary Venous Return

AbstractCat eye syndrome (CES) is a rare genetic defect, characterized by iris colobomas, preauricular skin tags, and anal malformations. Affecting 1 in 150,000 people, this defect is caused by duplication or triplication of the proximal long (q) arm of chromosome 22. Congenital heart disease is associated with CES. One of the most common heart defects in patients with CES is total anomalous pulmonary venous return (TAPVR). We report patients with a rare association of concomitant TAPVR and aortic arch obstruction: one with interrupted aortic arch and the other with coarctation of the aorta with an aberrant right subclavian artery.

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Coronal clival cleft in CHARGE syndrome

The Neuroradiology Journal ◽

10.1177/1971400916678248 ◽

2017 ◽

Vol 30 (6) ◽

pp. 574-577 ◽

Cited By ~ 3

Author(s):

Eman Mahdi ◽

Matthew T Whitehead

Keyword(s):

Cleft Lip ◽

Cleft Lip And Palate ◽

Genetic Disorder ◽

Ductus Arteriosus ◽

Choanal Atresia ◽

Charge Syndrome ◽

Craniocervical Junction ◽

Undescended Testes ◽

Ear Anomalies ◽

Patent Ductus

CHARGE syndrome is a genetic disorder with multi-systemic congenital anomalies, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome has been refined over the years. However, there are limited reports describing skullbase and craniocervical junction abnormalities. These osseous malformations are often under recognized, especially on MRI. We report here a case of CHARGE syndrome with colobomas, cleft lip and palate, patent ductus arteriosus, undescended testes, and a coronal clival cleft which has not been previously depicted in CHARGE syndrome. The presence of a coronal clival cleft should alert the radiologist to examine the ears, eyes, palate, choana, and olfactory centers for other signs of CHARGE syndrome.

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