Epidemiological Research of Microtia Combined With Congenital Heart Disease.


Journal

The Journal of craniofacial surgery
ISSN: 1536-3732
Titre abrégé: J Craniofac Surg
Pays: United States
ID NLM: 9010410

Informations de publication

Date de publication:
01 May 2021
Historique:
pubmed: 1 12 2020
medline: 18 11 2021
entrez: 30 11 2020
Statut: ppublish

Résumé

Congenital heart disease (CHD) is one of the most common combined malformations of microtia. There is currently no specific study that investigates the relationship between microtia and CHD. This study collected microtia inpatients admitted from May 1, 2015 to July 31, 2016. The diagnosis of CHD was based on patient's symptoms, past history, and echocardiography. Pearson χ2 test was used to analyze the correlation between CHD and microtia. A total of 30 cases (3.35%) were documented with CHD, including atrial septal defect (12/40.00%), ventricular septal defect (7/23.30%), patent ductus arteriosus (2/6.70%), complex congenital heart disease (3/10.00%), combined CHD (2/6.70%) and other malformations (4/13.30%). Analysis showed no statistically significant relation between CHD and the side of affected ear or gender. The occurrence of CHD in microtia patients was higher than that in the general population. The relationship between them was explored mainly from the etiological perspective. Microtia and CHD were often combined in syndromes such as Goldenhar syndrome, 22q11 deletion syndrome, and CHARGE syndrome. Absence of genes or abnormal embryo development associated with these syndromes leads to the occurrence of both.

Identifiants

pubmed: 33252535
pii: 00001665-202105000-00027
doi: 10.1097/SCS.0000000000007296
doi:

Types de publication

Journal Article

Langues

eng

Pagination

920-924

Informations de copyright

Copyright © 2020 by Mutaz B. Habal, MD.

Déclaration de conflit d'intérêts

The authors report no conflicts of interest.

Références

Bennun RD, Mulliken JB, Kaban LB, et al. Microtia: a microform of hemifacial microsomia. Plast Reconstr Surg 1985; 76:859–865.
Luquetti DV, Leoncini E, Mastroiacovo P. Microtia-anotia: a global review of prevalence rates. Birth Defects Res A Clin Mol Teratol 2011; 91:813–822.
Cox TC, Camci ED, Vora S, et al. The genetics of auricular development and malformation: new findings in model systems driving future directions for microtia research. Eur J Med Genet 2014; 57:394–401.
Shaw GM, Carmichael SL, Kaidarova Z, et al. Epidemiologic characteristics of anotia and microtia in California, 1989-1997. Birth Defects Res A Clin Mol Teratol 2004; 70:472–475.
Forrester MB, Merz RD. Descriptive epidemiology of anotia and microtia, Hawaii, 1986-2002. Congenit Anom (Kyoto) 2005; 45:119–124.
Bartel-Friedrich S. Congenital auricular malformations: description of anomalies and syndromes. Facial Plast Surg 2015; 31:567–580.
Zhang Y, Jiang H, Yang Q, et al. Microtia in a Chinese specialty clinic population: clinical heterogeneity and associated congenital anomalies. Plast Reconstr Surg 2018; 142:892e–903e.
Lee KT, Yang EJ, Lim SY, et al. Association of congenital microtia with environmental risk factors in South Korea. Int J Pediatr Otorhinolaryngol 2012; 76:357–361.
Li Q, Zhou X, Wang Y, et al. Facial paralysis in patients with hemifacial microsomia: frequency, distribution, and association with other OMENS abnormalities. J Craniofac Surg 2018; 29:1633–1637.
van Nunen DP, Kolodzynski MN, van den Boogaard M J, et al. Microtia in the Netherlands: clinical characteristics and associated anomalies. Int J Pediatr Otorhinolaryngol 2014; 78:954–959.
Kelley PE, Scholes MA. Microtia and congenital aural atresia. Otolaryngol Clin North Am 2007; 40:61–80.
Luquetti DV, Cox TC, Lopez-Camelo J, et al. Preferential associated anomalies in 818 cases of microtia in South America. Am J Med Genet A 2013; 161A:1051–1057.
Lara DA, Lopez KN. Public health research in congenital heart disease. Congenit Heart Dis 2014; 9:549–558.
Muntean I, Toganel R, Benedek T. Genetics of congenital heart disease: past and present. Biochem Genet 2017; 55:105–123.
Mat BM, Sapian MH, Jamil MT, et al. The birth prevalence, severity, and temporal trends of congenital heart disease in the middle-income country: s population-based study. Congenit Heart Dis 2018; 13:1012–1027.
van der Linde D, Konings EE, Slager MA, et al. Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis. J Am Coll Cardiol 2011; 58:2241–2247.
van der Bom T, Zomer AC, Zwinderman AH, et al. The changing epidemiology of congenital heart disease. Nat Rev Cardiol 2011; 8:50–60.
Wu J, Zhang R, Zhang Q, et al. Epidemiological analysis of microtia: a retrospective study in 345 patients in China. Int J Pediatr Otorhinolaryngol 2010; 74:275–278.
Suutarla S, Rautio J, Ritvanen A, et al. Microtia in Finland: comparison of characteristics in different populations. Int J Pediatr Otorhinolaryngol 2007; 71:1211–1217.
Tasse C, Bohringer S, Fischer S, et al. Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet 2005; 48:397–411.
Mastroiacovo P, Corchia C, Botto LD, et al. Epidemiology and genetics of microtia-anotia: a registry based study on over one million births. J Med Genet 1995; 32:453–457.
Alasti F, Van Camp G. Genetics of microtia and associated syndromes. J Med Genet 2009; 46:361–369.
Zhu J, Wang Y, Liang J, et al. An epidemiological investigation of anotia and microtia in China during 1988-1992. Zhonghua Er Bi Yan Hou Ke Za Zhi 2000; 35:62–65.
Dixit R, Rai SK, Yadav AK, et al. Epidemiology of congenital heart disease in India. Congenit Heart Dis 2015; 10:437–446.
McDonald-McGinn DM, Sullivan KE, Marino B, et al. 22q11.2 deletion syndrome. Nat Rev Dis Primers 2015; 1:15071.
Burnside RD. 22q11.21 deletion syndromes: a review of proximal, central, and distal deletions and their associated features. Cytogenet Genome Res 2015; 146:89–99.
Wu D, Chen Y, Xu C, et al. Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients. Plos One 2013; 8:e54404.
Khositseth A, Tocharoentanaphol C, Khowsathit P, et al. Chromosome 22q11 deletions in patients with conotruncal heart defects. Pediatr Cardiol 2005; 26:570–573.
Digilio MC, Angioni A, De Santis M, et al. Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies. Clin Genet 2003; 63:308–313.
Kaye CI, Martin AO, Rollnick BR, et al. Oculoauriculovertebral anomaly: segregation analysis. Am J Med Genet 1992; 43:913–917.
Callier P, Faivre L, Thauvin-Robinet C, et al. Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome. Am J Med Genet A 2008; 146A:2109–2115.
Ala-Mello S, Siggberg L, Knuutila S, et al. Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly. Am J Med Genet A 2008; 146A:2490–2494.
Caccamese JJ, Costello BJ, Mooney MP. Novel deformity of the mandible in oculo-auriculo-vertebral spectrum: case report and literature review. J Oral Maxillofac Surg 2006; 64:1278–1282.
Lafay-Cousin L, Payne E, Strother D, et al. Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor. Am J Med Genet A 2009; 149A:2855–2859.
Hsu P, Ma A, Wilson M, et al. CHARGE syndrome: a review. J Paediatr Child Health 2014; 50:504–511.
Schulz Y, Wehner P, Opitz L, et al. CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance. Hum Genet 2014; 133:997–1009.
Bajrami E, Spiroski M. Genomic imprinting. Open Access Maced J Med Sci 2016; 4:181–184.
Rivera CM, Ren B. Mapping human epigenomes. Cell 2013; 155:39–55.
Jarrell DK, Lennon ML, Jacot JG. Epigenetics and mechanobiology in heart development and congenital heart disease. Diseases 2019; 7:52.
Li C, Hao S, Wang H, et al. expression profiling and target genes study in congenital microtia. Int J Pediatr Otorhinolaryngol 2013; 77:483–487.
Zhang L, Lin L, Song YP, et al. Differential expression of long noncoding RNAs in congenital microtia. Gene Expr Patterns 2017; 25-26:131–141.
Moore-Morris T, van Vliet PP, Andelfinger G, et al. Role of epigenetics in cardiac development and congenital diseases. Physiol Rev 2018; 98:2453–2475.
Zhang HS, Chen SJ, Zeng HC, et al. Characteristics of 43 multiple auricular deformity case families and auricle morphology in 463 microtia patients in South China. Ann Transl Med 2020; 8:496.
Castilla EE, Lopez-Camelo JS, Campana H. Altitude as a risk factor for congenital anomalies. Am J Med Genet 1999; 86:9–14.
Bialkowski J, Glowacki J, Zabal C, et al. Patent ductus arteriosus at low and high altitudes: anatomical and haemodynamic features and their implications for transcatheter closure. Kardiol Pol 2011; 69:431–436.
Yamauchi M, Yotsuyanagi T, Ikeda K, et al. Clinical and genetic analysis of microtia in Japan. J Plast Surg Hand Surg 2012; 46:330–334.
Sadowski SL. Congenital cardiac disease in the newborn infant: past, present, and future. Crit Care Nurs Clin North Am 2009; 21:37–48.
Marelli AJ, Ionescu-Ittu R, Mackie AS, et al. Lifetime prevalence of congenital heart disease in the general population from 2000 to 2010. Circulation 2014; 130:749–756.
Kristensen SD, Knuuti J, Saraste A, et al. 2014ESC/ESA Guidelines on non-cardiac surgery: cardiovascular assessment and management: The Joint Task Force on non-cardiac surgery: cardiovascular assessment and management of the European Society of Cardiology (ESC) and the European Society of Anaesthesiology (ESA). Eur J Anaesthesiol 2014; 31:517–573.
Duceppe E, Parlow J, MacDonald P, et al. Canadian cardiovascular society guidelines on perioperative cardiac risk assessment and management for patients who undergo noncardiac surgery. Can J Cardiol 2017; 33:17–32.
Fleisher LA, Fleischmann KE, Auerbach AD, et al. 2014ACC/AHA guideline on perioperative cardiovascular evaluation and management of patients undergoing noncardiac surgery: a report of the American College of Cardiology/American Heart Association Task Force on practice guidelines. J Am Coll Cardiol 2014; 64:e77–e137.

Auteurs

Tongyu Cao (T)

Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College.

Qi Chen (Q)

Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College.

Bingqing Wang (B)

Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College.

Jintian Hu (J)

Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College.

Mengxuan Zou (M)

Department of Structural Heart Disease, National Center for Cardiovascular Disease, Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Qingguo Zhang (Q)

Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female
Humans United States Aged Cross-Sectional Studies Medicare Part C
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH