Congenital heart defects in patients with isolated microtia: evaluation using colour Doppler echocardiographic image.

BACKGROUND: The objective of this study was to delineate the characteristics and incidence of congenital heart disease (CHD) in patients with isolated microtia and to determine whether the prevalence of CHD among patients with isolated microtia increases with the severity of microtia. METHODS: A total of 804 consecutive patients had a pre-operative colour Doppler echocardiographic examination. A retrospective study was performed with the clinical and imaging data from November, 2017 to January, 2019. The χ2 test was performed to analyse the interaction between isolated microtia and CHD. RESULTS: With the colour Doppler echocardiographic examination's data from 804 consecutive isolated microtia patients, we found CHD, including atrial septal defect, ventricular septal defect, tetralogy of Fallot, patent ductus arteriosus, and others, occurred in 52 of 804 patients (6.5%). Atrial septal defect prevalence in patients with isolated microtia was significantly higher than ventricular septal defect (24/804 versus 11/804, p < 0.05) and patent ductus arteriosus (24/804 versus 2/804, p < 0.001). Ventricular septal defect prevalence in patients with isolated microtia was significantly higher than patent ductus arteriosus (11/804 versus 2/804, p < 0.05). All four types of microtia (concha-type microtia, small concha-type microtia, lobule-type microtia, and anotia) had similar incidences of CHD with no difference in the incidences among these types (p > 0.05 respectively). Furthermore, there was no significant difference in the incidence of the atrial septal defect among the four subtypes (p > 0.05 respectively). Similarly, ventricular septal defect and patent ductus arteriosus also showed no differences (p > 0.05 respectively). CONCLUSIONS: The overall incidences of CHD and three most common CHD subtypes (atrial septal defect, ventricular septal defect, and patent ductus arteriosus) in patients with isolated microtia are higher than general population. The prevalence of CHD among patients with isolated microtia does not increase with the severity of microtia. According to our experience in this study, we suggest colour Doppler echocardiographic imaging should be performed for isolated microtia patients soon after birth if possible. Furthermore, for the plastic surgeon and anaesthesiologist, it is important to take pre-operative colour Doppler echocardiographic images which can help evaluate heart function to ensure the safety of the peri-operative period. Future studies when investigating CHDs associated with isolated microtia could focus on genetic and molecular mechanisms.

The circular RNA expression profile of human auricle cartilage and the role of circCOL1A2 in isolated microtia.

Microtia is one of the most common craniofacial birth defects worldwide, and its primary clinical manifestation is auricle deformity. Epigenetic factors are known to contribute to the etiology of microtia, yet the involvement of circular RNAs (circRNAs) in human auricle development and their association with microtia remains poorly understood. In this study, we aimed to analyze differentially expressed circRNAs and explore their functional implications in isolated microtia. By employing circRNA microarray analysis and bioinformatics approaches, we identified 340 differentially expressed circRNAs in auricle cartilage of patients with isolated microtia, comprising 152 upregulated and 188 downregulated circRNAs. A circRNA-mRNA co-expression network was constructed, followed by gene ontology analysis and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analysis. Subsequently, we selected four significantly upregulated circRNAs from the co-expression network based on their association with cartilage development and validated their expressions in 30 isolated microtia and 30 control clinical auricle cartilage samples. Among these circRNAs, circCOL1A2, the most significantly upregulated circRNA, was selected as a representative circRNA for investigating its role in isolated microtia. Overexpression of circCOL1A2 significantly inhibited chondrocyte proliferation and chondrogenic differentiation of human mesenchymal stem cells. Additionally, circCOL1A2 upregulated Dermatan Sulfate Epimerase Like (DSEL) expression by sponging miR-637 through the competing endogenous RNA (ceRNA) mechanism. Notably, the downregulation of DSEL attenuated the inhibitory effect of circCOL1A2 overexpression on cell proliferation and chondrogenic differentiation. Collectively, these findings highlight the involvement of circCOL1A2 in the pathogenesis of isolated microtia and emphasize the potential significance of dysregulated circRNAs in disease development.

Profiling of Long Non-Coding RNAs in Auricular Cartilage of Patients with Isolated Microtia.

Introduction: Microtia is the second most common maxillofacial birth defect worldwide. However, the involvement of long non-coding RNAs (lncRNAs) in isolated microtia is not well understood. This study aimed at identifying lncRNAs that regulate the expression of genes associated with isolated microtia. Methods: We used our microarray data to analyze the expression pattern of lncRNA in the auricular cartilage tissues from 10 patients diagnosed with isolated microtia, alongside 15 control subjects. Five lncRNAs were chosen for validation using real-time quantitative reverse transcription-polymerase chain reaction (qRT-PCR). Results: We identified 4651 differentially expressed lncRNAs in the auricular cartilage from patients with isolated microtia. By Gene Ontology/Kyoto Encyclopedia of Genes and Genomes pathway (GO/KEGG) analysis, we identified 27 differentially expressed genes enriched in pathways associated with microtia. In addition, we predicted 9 differentially expressed genes as potential cis-acting targets of 12 differentially expressed lncRNAs. Our findings by qRT-PCR demonstrate significantly elevated expression levels of ZFAS1 and DAB1-AS1, whereas ADIRF-AS1, HOTAIRM1, and EPB41L4A-AS1 exhibited significantly reduced expression levels in the auricular cartilage tissues of patients with isolated microtia. Conclusions: Our study sheds light on the potential involvement of lncRNAs in microtia and provides a basis for further investigation into their functional roles and underlying mechanisms.

Longitudinal study of use of the pressure free, adhesive bone conducting hearing system in children at a tertiary centre.

OBJECTIVES: To assess the long-term compliance and usability of the non-implantable, adhesive bone conduction hearing aid system in children. Review of patient demographics, compliance and continued use. Identification of factors that impact on future patient selection. METHODS: Retrospective case series review of all children aged 5 and above fitted with the adhesive bone conduction hearing aid at a paediatric tertiary centre in the UK between 2015 and 2019. Data collected from medical and audiological records. Patient demographics, skin complications, patient feedback and changes in hearing aid provision were recorded. RESULTS: 82 children (40 female, 42 male) were provided with 89 adhesive hearing devices. To date 72 (87.8%) of the fitted patients, continue to use the device daily with minimal reported skin complications. Of the 10 patients that no longer use the adhesive aid, 5 no longer use any hearing device at all and the remaining 5 patients use an alternative hearing system. These include spectacle aids (n = 2) and bone anchored hearing implant (n = 3). CONCLUSION: Adhesive aid products are reported to provide comparable audiological results to the commercial softband hearing aids. They provide an excellent alternative in the treatment of conductive hearing loss without the costs and possible complications of a surgical intervention. A compliance rate of 87.8% of all patients fitted with the adhesive system demonstrates a high level of patient satisfaction. The device may also provide an appropriate stepping stone to implanted device once a child reaches the age in which an autonomous decision can be made. Limitations of the device have been the variability in the longevity of the adhesive adaptor and interference with headscarves, hats and glasses with a low frequency of transient minor skin reactions reported.

Renal ultrasound abnormalities in children with syndromic and non-syndromic microtia.

OBJECTIVE: Renal abnormalities are commonly considered in the work up of pediatric patients with external ear malformations. However, there is little consensus regarding an appropriate renal screening protocol for patients with microtia. We sought to characterize renal abnormalities detected on ultrasonography in pediatric patients with microtia. METHODS: We conducted a retrospective cohort study of pediatric patients diagnosed with microtia who underwent renal ultrasound from 1991 to 2014 at a single tertiary academic institution. Renal ultrasound reports and medical records were reviewed to assess for renal abnormalities and to determine whether patients required specialist follow-up or interventions. Audiograms and otolaryngology notes were used to determine patterns of hearing loss. The following additional information was recorded from the electronic medical records: patient sex, microtia grade (I-IV), microtia laterality, and known associated syndromes. Characteristics were compared between those who did and did not have renal ultrasound findings using Fisher's exact test. Univariate logistic regression analysis was performed to determine factors associated with renal ultrasound findings. RESULTS: The majority of patients in this cohort were syndromic (n = 51, 64%) with grade III microtia (n = 46, 58%) and conductive hearing loss (n = 58, 72%). Syndromic children with microtia demonstrated a higher crude rate of renal ultrasound abnormalities (22%) than children with isolated microtia (7%). Of these patients, 69% required specialist follow-up. Univariate logistic regression analysis did not identify predictors that were significantly associated with renal ultrasound findings. CONCLUSION: Fairly high rates of abnormalities in syndromic and non-syndromic patients may warrant screening renal ultrasound in all patients with microtia, especially given the high percentage of findings requiring renal follow-up. A prospective study to formally evaluate screening efficacy is needed.

Isolated Microtia With Anterior Hemispheric Polymicrogyria.

We report on a male infant who presented with neonatal clonic seizure and was found to have isolated left-sided microtia on clinical examination. Magnetic resonance imaging (MRI) of the brain revealed extensive polymicrogyria over the bilateral perisylvian and frontal cortex. He had no other associated anomaly on physical examination, genetics, metabolic, and radio imaging studies. The study of the data collected from the Italian Birth Defect Registry reported the incidence of microtia-anotia as 1.46/10 000. Microtia-anotia can also be found in association with other anomalies that characterizes oculo-auriculo-vertebral spectrum. Although oculo-auriculo-vertebral spectrum has been associated with various cerebral malformations, isolated microtia usually does not have such association. We could not find any report of polymicrogyria in a case of isolated microtia.