Twenty‐five additional cases of trisomy 9 mosaic: Birth information, medical conditions, and developmental status

Bruns, Deborah A.; Campbell, Emily

doi:10.1002/ajmg.a.36977

Cited by 18 publications

(32 citation statements)

References 32 publications

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“…Most of the studied children exhibited more than 1 cardiac condition. 3 However, to the best of our knowledge, no case of cardiomyopathy has been described in these patients.…”

mentioning

confidence: 79%

“…4,8,10,11 In the limited body of literature on children and adults with trisomy 9 mosaicism, a number of cases of congenital heart disease have been described. 3 Patients with ventricular and atrial septal defects, patent ductus arteriosus, and arch anomalies with vascular rings have been reported. 3 This, however, is the first description of a trisomy 9 mosaicism patient with a primary presentation of cardiomyopathy-in this case elicited in the setting of hemodynamic instability associated with the induction of general anesthesia.…”

Section: Discussionmentioning

confidence: 99%

“…2 Subsequent literature, including via the Tracking Rare Incidence Syndromes project, has provided similar descriptions of trisomy 9 mosaicism, as well as additional phenotypic characteristics and associated medical conditions. 3 Variably reported are such things as joint anomalies, craniofacial malformations, microphthalmia, microcephaly, renal issues, gastroesophageal reflux (GER), intestinal malrotation, laryngomalacia, seizures, and a wide spectrum of language and motor development. 3 According to Bruns and Campbells' survey of 25 trisomy 9 mosaic patients, the most common physical characteristics were low-set ears (64%), micrognathia (52%), rocker bottom feet (28%), microcephaly (16%), cleft palate (12%), and microphthalmia (12%).…”

mentioning

confidence: 99%

“…3 Variably reported are such things as joint anomalies, craniofacial malformations, microphthalmia, microcephaly, renal issues, gastroesophageal reflux (GER), intestinal malrotation, laryngomalacia, seizures, and a wide spectrum of language and motor development. 3 According to Bruns and Campbells' survey of 25 trisomy 9 mosaic patients, the most common physical characteristics were low-set ears (64%), micrognathia (52%), rocker bottom feet (28%), microcephaly (16%), cleft palate (12%), and microphthalmia (12%). 3 With regards to cardiac conditions, the literature reports the presence of at least 1 cardiac anomaly in one third to two thirds of patients.…”

mentioning

confidence: 99%

“…3 According to Bruns and Campbells' survey of 25 trisomy 9 mosaic patients, the most common physical characteristics were low-set ears (64%), micrognathia (52%), rocker bottom feet (28%), microcephaly (16%), cleft palate (12%), and microphthalmia (12%). 3 With regards to cardiac conditions, the literature reports the presence of at least 1 cardiac anomaly in one third to two thirds of patients. The most commonly reported congenital heart defects are ventricular septal defect, atrial septal defect, and patent ductus arteriosus; less common are conditions such as arch anomalies with vascular rings and aberrant left subclavian artery.…”

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confidence: 99%

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Cardiac Failure in a Trisomy 9 Patient Undergoing Anesthesia: A Case Report

Riley

Moore

Eagelston

et al. 2017

Anesthesia Progress

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A 27-year-old female with Trisomy 9 mosaicism presented to Children's Hospital Colorado for outpatient dental surgery under general anesthesia. The patient's past medical history was also significant for premature birth, gastroesophageal reflux, scoliosis and kyphosis, obesity, and developmental delay. Per her mother's report, the patient had no cardiac issues. She had undergone multiple previous general anesthetics, some of which documented respiratory complications such as laryngospasm, bronchospasm, and possible aspiration. During this anesthetic, the patient became hypotensive on induction, with sluggish response to intravenous fluids, glycopyrrolate, and ephedrine. Her electrocardiogram demonstrated what appeared to be left bundle branch block at baseline, with possible ST segment changes after induction. Due to her abnormal reaction to the induction and subsequent treatment for hypotension, an echocardiogram was performed. The patient was found to have an ejection fraction of 25%-30%. The anesthetic was uneventful for the remainder of the procedure, and following recovery, the patient was admitted by the heart failure team for further care.

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“…Most of the studied children exhibited more than 1 cardiac condition. 3 However, to the best of our knowledge, no case of cardiomyopathy has been described in these patients.…”

mentioning

confidence: 79%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

See 3 more Smart Citations

Cardiac Failure in a Trisomy 9 Patient Undergoing Anesthesia: A Case Report

Riley

Moore

Eagelston

et al. 2017

Anesthesia Progress

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Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines

Glass

et al. 2021

American J of Med Genetics Pt A

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Trisomy 9 mosaic syndrome (T9M) is a rare condition characterized by multiorgan system involvement including craniofacial dysmorphisms, cardiac, genitourinary (GU), skeletal, and central nervous system (CNS) abnormalities. Although more than 100 cases have been reported in the literature, a comprehensive review has not been performed nor have clinical guidelines been established. Therefore, we describe the clinical features of 16 additional patients, review features of previously reported individuals, and suggest clinical guidelines. Our findings expand the clinical phenotype of T9M, including novel features of amblyopia, astigmatism, corectopia of pupil, posterior embryotoxon, and diaphragmatic eventration. Most patients had prenatal and perinatal issues, particularly from respiratory, growth, and feeding standpoints.Although small birth parameters were common, long-term growth trends varied widely. An association with advanced parental ages was also identified. The spectrum of growth and development was wide, ranging from nonverbal patients to those able to participate in educational programs with age-appropriate peers. The severity of clinical outcomes was unrelated to blood lymphocyte mosaicism levels. Microarray analysis had a higher diagnostic rate compared to standard karyotype analysis and should be utilized if this diagnosis is suspected. Future longitudinal studies will be key to monitor long-term outcomes of individuals with T9M and determine best practices for clinical management.

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