An Adult Case of Chromosome 22q11.2 Deletion Syndrome Associated with a High-positioned Right Aortic Arch

Hoshino, Yoichi; Machida, Munemasa; Shimano, Shunichi; Taya, Teizo

doi:10.2169/internalmedicine.56.7558

Intern. Med.

2017

DOI: 10.2169/internalmedicine.56.7558

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An Adult Case of Chromosome 22q11.2 Deletion Syndrome Associated with a High-positioned Right Aortic Arch

Yoichi Hoshino¹,

Munemasa Machida²,

Shunichi Shimano³

et al.

Abstract: Chromosome 22q11.2 deletion syndrome (22q11.2 DS) has a very wide phenotypic spectrum that includes dysmorphic features, cardiac anomalies, and hypocalcemia arising from hypoparathyroidism. We herein describe an adult case of 22q11.2 DS with associated hypoparathyroidism and anomalies of the aortic arch. Because the patient had been diagnosed with primary hypoparathyroidism at another hospital, a diagnosis of 22q11.2 DS had been overlooked. A chest X-ray examination revealed widening of the mediastinum caused … Show more

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Cited by 3 publications

References 56 publications

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Phenotype of patients with late diagnosis of 22q11 deletion: a review and retrospective study

Loh,

Schildkraut,

Byrnes

et al. 2024

Internal Medicine Journal

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BackgroundChromosome 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome, typically presenting in neonates with congenital cardiac anomalies, hypocalcaemia and thymic hypoplasia. Some patients are diagnosed later in adolescence and adulthood, with less known about the clinical phenotype of these patients.AimTo summarise key clinical features in cases of 22q11DS diagnosed during adolescence and adulthood.MethodsThis is a retrospective cohort study of 22q11DS patients diagnosed after 13 years of age over 2010–2021, with a literature review of published cases highlighting other late diagnoses. The study was performed in a large multicentre tertiary health network in Melbourne, Australia. Patients diagnosed with 22q11DS after the age of 13 years were included in the study. Main outcome measures were key clinical features in cases of late diagnosis of 22q11DS.ResultsA literature search yielded 53 published case reports and one cohort study for review (62 subjects). Additionally, 10 cases of late diagnosis of 22q11DS were identified through a retrospective electronic medical chart review. Findings suggest that intellectual disability and learning difficulties, hypocalcaemia with hypoparathyroidism and facial dysmorphism remain key features in patients with a late diagnosis of 22q11DS, with hypocalcaemia being the most common presentation leading to diagnosis. Patients diagnosed in adulthood may lack classical clinical features of congenital cardiac anomalies and thymic hypoplasia. Immunological consequences of 22q11DS are also an important late‐onset consideration. Atypical features may include basal ganglia calcification.ConclusionsChromosome 22q11DS has diverse clinical features and a highly variable phenotype, likely contributing to underdiagnosis and later diagnoses.

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Phenotype of patients with late diagnosis of 22q11 deletion: a review and retrospective study

Loh,

Schildkraut,

Byrnes

et al. 2024

Internal Medicine Journal

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Hypoparathyroidism and late-onset hypogonadism in an adult male with familial 22q11.2 deletion syndrome: a case report with 3-year follow-up and review of the literature

Chen

Yang

et al. 2022

BMC Endocr Disord

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Background 22q11.2 deletion syndrome (DiGeorge syndrome) is associated with multiple organ dysfunctions such as cardiac defects, immunodeficiency, and hypoplasia of parathyroid glands. Moreover, the phenotype of 22q11.2 DS has clinical variability and heterogeneity. Case presentation In this report, we present the case of a 35-year-old patient with a past medical history that included recurrent infections, mild learning difficulties in childhood, pediatric obesity, and cataract. He was admitted to the endocrinology department for the management of hypogonadism and hypocalcemia. During the 3-year follow-up, the patient gradually developed primary hypoparathyroidism, hypogonadism, chronic renal failure, and heart failure, and his medical condition deteriorated. Meanwhile, in order to improve clinicians’ awareness of the endocrine manifestations of adult 22q11.2 DS and reduce missed diagnoses, we reviewed 28 case reports of adult 22q11.2 DS to analyze the clinical characteristics. Discussion Here, we report the case of a young man diagnosed with 22q11.2 DS presented a rare combination of multiple endocrine disorders. This is the first time that a patient with 22q11.2DS had late-onset hypogonadism caused by primary testicular failure combined with decreased pituitary gonadotropin reserve in a patient with 22q11.2DS.

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Syndromes with aortic involvement: pictorial review

Zucker

2018

Cardiovasc. Diagn. Ther.

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A variety of syndromes are associated with thoracoabdominal aortic pathologies. While these diseases are collectively rare, the presence of advanced or unusual aortic disease at a young age should raise suspicion of an underlying syndrome. Similarly, patients with a known syndrome require close monitoring in anticipation of future aortic disease. In this article, the syndromes most commonly encountered in clinical practice are reviewed, including Marfan syndrome (MFS) and other connective tissue disorders, Turner syndrome (TS), autosomal dominant polycystic kidney disease (ADPKD), neurofibromatosis (NF), Williams syndrome (WS), Alagille syndrome (AGS), and DiGeorge syndrome (DGS). The distinct clinical, imaging, and management features of each disorder are discussed. Attention is focused on the unique patterns of aortic disease in each syndrome, emphasizing the role of recent imaging modalities and treatment strategies. Ancillary and distinguishing aspects of the syndromes that aid in diagnosis are also highlighted.

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An Adult Case of Chromosome 22q11.2 Deletion Syndrome Associated with a High-positioned Right Aortic Arch

Cited by 3 publications

References 56 publications

Phenotype of patients with late diagnosis of 22q11 deletion: a review and retrospective study

Phenotype of patients with late diagnosis of 22q11 deletion: a review and retrospective study

Hypoparathyroidism and late-onset hypogonadism in an adult male with familial 22q11.2 deletion syndrome: a case report with 3-year follow-up and review of the literature

Syndromes with aortic involvement: pictorial review

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