Cardiac anomalies in microtia patients at a tertiary pediatric care center

Alexander, Nicole L.; Kini, Sameer; Liu, Yi‐Chun Carol

doi:10.1016/j.ijporl.2020.110211

Cited by 4 publications

(4 citation statements)

References 15 publications

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“…1 A ). Microtia can occur in isolation, as a component of neural crest syndromes ( 1 , 2 ), or in the context of craniofacial microsomia (CFM) in which hypoplasia of facial bone, musculature, and soft tissues arise from maldevelopment of first and second pharyngeal arch-derived structures ( 3 ). Genetic causes for microtia in the context of syndromic phenotypes have been identified ( 4 – 8 ); however, a genetic cause has remained elusive in the majority of isolated cases ( 9 ).…”

mentioning

confidence: 99%

An ancient founder mutation located betweenROBO1andROBO2is responsible for increased microtia risk in Amerindigenous populations

Quiat

Kim

Zhang

et al. 2022

Proc. Natl. Acad. Sci. U.S.A.

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Significance The genetic basis of isolated microtia, a congenital abnormality of the external ear, is poorly understood. Indigenous American (Amerindigenous) populations have the highest reported incidence of microtia. Here, we use whole genome sequencing to study microtia in Latin American families and identify a common microtia risk allele that is enriched among individuals with Amerindigenous ancestry. This allele is located in a regulatory region governing the expression of Roundabout 1 ( ROBO1 ) and Roundabout 2 ( ROBO2 ) in induced pluripotent stem cell–derived neural crest cells and is associated with a complex repeat sequence. These results identify a shared genetic basis for isolated microtia and other craniofacial abnormalities and account for, at least in part, the increased incidence of microtia in Amerindigenous populations.

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mentioning

confidence: 99%

An ancient founder mutation located betweenROBO1andROBO2is responsible for increased microtia risk in Amerindigenous populations

Quiat

Kim

Zhang

et al. 2022

Proc. Natl. Acad. Sci. U.S.A.

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“…The recent body of research in microtia, a congenital anomaly ranking as the second most prevalent after cleft lip, has illuminated the intriguing possibility of systemic manifestations. One particular focus is the combined congenital heart diseases [8][9][10][11][12] . This study's comprehensive scope is underscored by the substantial size of the patient cohort, distinguishing it as a significant contribution to the understanding of microtia, its potential links to cardiac maldevelopment, and the concurrent occurrence of electrocardiographic (ECG) abnormalities.…”

Section: Discussionmentioning

confidence: 99%

“…For microtia population, previous researches demonstrated common combined congenital heart structure diseases are atrial septal defect (ASD), ventricular septal defect (VSD), and patent ductus arteriosus (PDA) 9,10 . And associated ECG findings include atrial arrhythmia, AV block, incomplete right bundle branch block (RBBB), and ventricular hypertrophy/high voltage, in the context of pulmonary overcirculation and right heart volume overload, which can lead to right atrial and right ventricular enlargement [14][15][16] .…”

Section: Discussionmentioning

confidence: 99%

Electrocardiographic abnormalities in patients with microtia

Yang,

Tian,

Sun

et al. 2024

Sci Rep

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The main objective of this study was to investigate the incidence and characteristics of electrocardiographic abnormalities in patients with microtia, and to explore cardiac maldevelopment associated with microtia. This retrospective study analyzed a large cohort of microtia patients admitted to Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, from September 2017 to August 2022. The routine electrocardiographic reports of these patients were reviewed to assess the incidence and characteristics of abnormalities. The study included a total of 10,151 patients (5598 in the microtia group and 4553 in the control group) who were admitted to the Plastic Surgery Hospital of Peking Union Medical College. The microtia group had a significantly higher incidence of abnormal electrocardiographies compared to the control group (18.3% vs. 13.6%, P < 0.01), even when excluding sinus irregularity (6.1% vs. 4.4%, P < 0.01). Among the 1025 cases of abnormal electrocardiographies in the microtia group, 686 cases were reported with simple sinus irregularity. After excluding sinus irregularity as abnormal, the most prevalent abnormalities was right bundle branch block (37.5%), followed by sinus bradycardia (17.4%), ST-T wave abnormalities (13.3%), atrial rhythm (9.1%), sinus tachycardia (8.3%), and ventricular high voltage (4.7%). Less common ECG abnormalities included atrial tachycardia (2.1%), ventricular premature contraction (2.4%), and ectopic atrial rhythm (1.8%). atrioventricular block and junctional rhythm were present in 1.2% and 0.9% of the cases, respectively. Wolff Parkinson White syndrome and dextrocardia had a lower prevalence, at 0.6% and 0.9%, respectively. The occurrence of electrocardiographic abnormalities in microtia patients was found to be higher compared to the control group. These findings highlight the potential congenital defect in cardiac electrophysiology beyond the presence of congenital heart defect that coincide with microtia.

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“…Microtia is a congenital malformation associated with abnormal migration of neural crest cell in the first and second branchial arch during the embryonic stage 1 , 2 . The presentation of the auricular deformity can range from mild structural anormality to severe absence of the ear and often accompanied by hearing loss.…”

Section: Introductionmentioning

confidence: 99%

Higher incidence of hematuria was observed in female children with microtia

Sun,

Yang,

Jiang

et al. 2023

Sci Rep

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The goals of this study were to investigate the incidence and characteristics of hematuria in patients with microtia, and to clarify that more attention should be paid to renal dysfunction in patients with microtia. We conducted a retrospective cohort study of a total 9447 children diagnosed with microtia (selected as study group, 7037 children) or pigmented nevus (selected as control group, 2410 children) at the Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College from January 2009 to June 2021. All of the routine urinalysis report of these children were reviewed to assess the incidence and characteristics of hematuria in each group. No statistically significant differences were observed when analyzing the overall incidence of hematuria between the study and control groups (P > 0.05). However, after grouping by sex, the incidence of hematuria in female children with microtia was significantly higher than that in femalecontrol group and no similar results were observed in the male patients. In addition, after further grouping by age in case group, the incidence of hematuria in girls of all ages with microtia was significantly higher than that in males with microtia (age 0–10:males: Girls = 1.89%:4.14%; age 0–5: males: Girls = 1.22%:3.73%; age 6–10: males:Girls = 1.97%:4.14%,P < 0.05), while no similar results were obtained in the control group.(age 0–10:males: Girls = 1.39%:2.22%; age 0–5: males: Girls = 1.07%:1.95%; age 6–10: males: Girls = 3.38%:3.17%, P > 0.05). Higher incidence of hematuria was observed in female children with microtia.

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Cardiac anomalies in microtia patients at a tertiary pediatric care center

Cited by 4 publications

References 15 publications

An ancient founder mutation located betweenROBO1andROBO2is responsible for increased microtia risk in Amerindigenous populations

An ancient founder mutation located betweenROBO1andROBO2is responsible for increased microtia risk in Amerindigenous populations

Electrocardiographic abnormalities in patients with microtia

Higher incidence of hematuria was observed in female children with microtia

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