https://doi.org/10.4081/monaldi.2023.2661
CHARGE syndrome and congenital heart diseases: systematic review of literature
Submitted: June 11, 2023
Accepted: August 18, 2023
Published: September 6, 2023
Accepted: August 18, 2023
Abstract Views: 1443
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SUPPLEMENTARY MATERIAL: 2
SUPPLEMENTARY MATERIAL: 2
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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Authors
CHARGE syndrome (CS) is a rare genetic disease that affects many areas of the body. The aim of the present systematic review was to evaluate the prevalence and types of congenital heart diseases (CHDs) in CS and their impact on clinical outcome. A systematic review from 1981 to September 2022 was conducted. Clinical studies that reported the association between CS and CHDs were identified, including a case report of a rare congenital anomaly of the aortic arch (AA) with persistent fifth AA (PFAA). Demographic, clinical and outcome data were extracted and analyzed. A total of 68 studies (44 case reports and 24 case series; n=943 CS patients) were included. The prevalence of CHDs was 76.6%, patent ductus arteriosus 26%, ventricular 21%, atrial septal defects 18%, tetralogy of Fallot 11%, and aortic abnormalities 24%. PFAA has not been previously reported in CS. Cardiac surgery was performed in more than half of CS patients (150/242, 62%). The in-hospital mortality rate was about 9.5% (n=86/900) in case series studies and 12% (n=5/43) in case reports, including cardiovascular (CV) and non-CV causes. CHDs and feeding disorders associated with CS may have a substantial impact on prognosis. CHDs were usually associated with CS and represent important causes of morbidity and mortality. PFAA, although rare, may also be present. The prognosis is highly dependent on the presence of cardiac and non-cardiac developmental abnormalities. Further studies are needed to better identify the main causes of the long-term outcome of CS patients.
Williams G, Wilson M, Rose D. The epidemiology and clinical features of the CHARGE association in Australian children 2000-2002. Port Pediatr Surveill Unit Bull 2004:5-17.
Blake KD, Davenport SL, Hall BD, et al. CHARGE association: an update and review for the primary pediatrician. Clin Pediatr (Phila) 1998;37:159-73.
Verloes A. Updated diagnostic criteria for CHARGE syndrome: a proposal. Am J Med Genet A 2005;133A:306-8.
Qin Z, Su J, Li M, et al. Clinical and genetic analysis of CHD7 expands the genotype and phenotype of CHARGE syndrome. Front Genet 2020;11:592.
Aramaki M, Udaka T, Kosaki R, et al. Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. J Pediatr 2006;148:410-14.
Page MJ, McKenzie JE, Bossuyt PM, et al. The PRISMA 2020 statement: an updated guideline for reporting systematic reviews. Syst Rev 2021;10:89.
Blake KD, Russell-Eggitt IM, Morgan DW, et al. Who’s in CHARGE? Multidisciplinary management of patients with CHARGE association. Arch Dis Child 1990;65:217-23.
Corsten-Janssen N, du Marchie Sarvaas GJ, Kerstjens-Frederikse WS, et al. CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects. Am J Med Genet A 2014;164A:3003-9.
Davenport SL, Hefner MA, Mitchell JA. The spectrum of clinical features in CHARGE syndrome. Clin Genet 1986;29:298-310.
Husu E, Hove HD, Farholt S, et al. Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome. Clin Genet 2013;83:125-34.
Ahn BS, Oh SY. Clinical characteristics of CHARGE syndrome. Korean J Ophthalmol 1998;12:130-4.
Chang JH, Park DH, Shin JP, Kim IT. Two cases of CHARGE syndrome with multiple congenital anomalies. Int Ophthalmol 2014;34:623-7.
Farquhar J, Carachi R, Raine PA. Twins with oesophageal atresia and the CHARGE association. Eur J Pediatr Surg 2002;12:56-8.
Cheng SSW, Luk HM, Chan DKH, Lo IFM. CHARGE syndrome in nine patients from China. Am J Med Genet A 2020;182:15-9.
Chestler RJ, France TD. Ocular findings in CHARGE syndrome. Six case reports and a review. Ophthalmology 1988;95:1613-9.
Corsten-Janssen N, van Ravenswaaij-Arts CMA, Kapusta L. Congenital arch vessel anomalies in CHARGE syndrome: a frequent feature with risk for co-morbidity. Int J Cardiol Heart Vasc 2016;12:21-5.
de Lonlay-Debeney P, Cormier-Daire V, Amiel J, et al. Features of DiGeorge syndrome and CHARGE association in five patients. J Med Genet 1997;34:986-9.
Issekutz KA, Graham JM Jr, Prasad C, et al. An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study. Am J Med Genet A 2005;133A:309-17.
Larson RS, Butler MG. Use of fluorescence in situ hybridization (FISH) in the diagnosis of DiGeorge sequence and related diseases. Diagn Mol Pathol 1995;4:274-8.
Lee YW, Kim SC, Shin YL, et al. Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome. Clin Genet 2009;75:290-3.
Oley CA, Baraitser M, Grant DB. A reappraisal of the CHARGE association. J Med Genet 1988;25:147-56.
Pagon RA, Graham JM Jr, Zonana J, Yong SL. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 1981;99:223-7.
Shoji Y, Ida S, Etani Y, et al. Endocrinological characteristics of 25 Japanese patients with CHARGE syndrome. Clin Pediatr Endocrinol 2014;23:45-51.
Sohn YB, Ko JM, Shin CH, et al. Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients. J Hum Genet 2016;61:235-9.
Strömland K, Sjögreen L, Johansson M, et al. CHARGE association in Sweden: malformations and functional deficits. Am J Med Genet A 2005;133A:331-9.
Tellier AL, Cormier-Daire V, Abadie V, et al. CHARGE syndrome: report of 47 cases and review. Am J Med Genet 1998;76:402-9.
Wyse RK, al-Mahdawi S, Burn J, Blake K. Congenital heart disease in CHARGE association. Pediatr Cardiol 1993;14:75-81.
Legendre M, Abadie V, Attié-Bitach T, et al. Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. Am J Med Genet C Semin Med Genet 2017;175:417-30.
Michielon G, Marino B, Oricchio G, et al. Impact of DEL22q11, trisomy 21, and other genetic syndromes on surgical outcome of conotruncal heart defects. J Thorac Cardiovasc Surg 2009;138:565-70.e2.
Southwell KE, Bird PA, Murray DP. Cochlear implantation in children with CHARGE syndrome. Cochlear Implants Int 2010;11:170-83. Erratum in: Cochlear Implants Int 2010;11:241.
Umino S, Kitamura M, Katoh-Fukui Y, et al. A case of combined 21-hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism. Mol Genet Genomic Med 2019;7:e730.
Ahmadpour S, Foghi K, Rezaei F. An aborted case suspected to CHARGE Syndrome; a rare case with cardiac, intestinal and kidney abnormalities. Egypt J Forensic Sci 2021;11:44.
Martin D, Knez I, Rigler B. Anomalous origin of the brachiocephalic trunk from the left pulmonary artery with CHARGE syndrome. Thorac Cardiovasc Surg 2006;54:549-51.
Arrington CB, Cowley BC, Nightingale DR, et al. Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association. Am J Med Genet A 2005;133A:326-30.
Bech AP, op den Akker J, Matthijsse PR. Isolation of the left subclavian artery from the pulmonary artery in a patient with CHARGE association. Congenit Anom (Kyoto) 2010;50:200-2.
Blake KD, Ratcliffe JM, Wyse RK. CHARGE association in two monozygous triplets. Int J Cardiol 1989;25:339-41.
Bloomfield FH, Shuan Dai, Perry D, Aftimos S. Isolated absence of the Moro reflex in a baby with CHARGE syndrome could reflect vestibular abnormalities. J Child Neurol 2008;23:561-3.
Carinci F, Hassanipour A, Mandrioli S, Pastore A. Surgical treatment of choanal atresia in CHARGE association: case report with long-term follow-up. J Craniomaxillofac Surg 1999;27:321-6.
Galvez-Ruiz A, Galindo-Ferreiro A, Lehner AJ. CHARGE syndrome: A case report of two new CDH7 gene mutations. Saudi J Ophthalmol 2021;34:306-9.
Jatana SK, Venkatnarayan K, Nair M. CHARGE syndrome. Med J Armed Forces India 2003;59:261-3.
Chiu CH, Thakuria J, Agrawal PB. Novel CHD7 and FBN1 mutations in an infant with multiple congenital anamolies. Indian J Pediatr 2010;77:208-9.
Curatolo P, Libutti G, Brinchi V. Infantile spasms and the CHARGE association. Dev Med Child Neurol 1983;25:367-9.
Dashti SR, Spetzler RF, Park MS, et al. Multimodality treatment of a complex cervicocerebral arteriovenous shunt in a patient with CHARGE syndrome: case report. Neurosurgery 2010;67:208-9.
De Krijger RR, Mooy CM, Van Hemel JO, et al. CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19;21) (q13.1;q22.3). Pediatr Dev Pathol 1999;2:577-81.
Devriendt K, Swillen A, Fryns JP. Deletion in chromosome region 22q11 in a child with CHARGE association. Clin Genet 1998;53:408-10.
Douglas AGL, Lam W. Extending the phenotypic spectrum of CHARGE syndrome: a case with preaxial polydactyly. Clin Dysmorphol 2010;19:33-4.
Freire G, Russell L, Oskoui M. Terminal 6p deletion syndrome mimicking CHARGE syndrome: A case report. J Pediatr Genet 2013;2:103-7.
Ghalili K, Issenberg HJ, Freeman NJ, Brodman RF. Isolated left carotid artery in CHARGE association: diagnosis and repair. Ann Thorac Surg 1990;50:130-2.
Granadillo JL, Wegner DJ, Paul AJ, et al. Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses. Am J Med Genet A 2021;185:544-8.
Guyot JP, Gacek RR, DiRaddo P. The temporal bone anomaly in CHARGE association. Arch Otolaryngol Head Neck Surg 1987;113:321-4.
Haginomori S, Sando I, Miura M, Casselbrant ML. Temporal bone histopathology in CHARGE association. Ann Otol Rhinol Laryngol 2002;111:397-401.
Hrusca A, Rachisan AL, Gach P, et al. Detection of pulmonary and coronary artery anomalies in tetralogy of Fallot using non-ECG-gated CT angiography. Diagn Interv Imaging 2016;97:543-8.
James PA, Aftimos S, Hofman P. CHARGE association and secondary hypoadrenalism. Am J Med Genet A 2003;117A:177-80.
Janda A, Sedlacek P, Mejstrikova E, et al. Unrelated partially matched lymphocyte infusions in a patient with complete DiGeorge/CHARGE syndrome. Pediatr Transplant 2007;11:441-7.
Wagner JB, Knowlton JQ, Pastuszko P, Shah SS. A rare case of vascular ring and coarctation of the aorta in association with CHARGE syndrome. Tex Heart Inst J 2017;44:138-40.
Lee KD, Okazaki T, Kato Y, et al. Esophageal atresia and tracheo-esophageal fistula associated with coarctation of the aorta, CHARGE association, and DiGeorge syndrome: a case report and literature review. Pediatr Surg Int 2008;24:1153-6.
Liu L, Yu T, Wang L, et al. A novel CHD7 mutation in a Chinese patient with CHARGE syndrome. Meta Gene 2014;2:469-78.
Lubaua I, Teraudkalna M. Ebstein anomaly and right aortic arch in patient with Charge syndrome. Medicina (Kaunas) 2021;57:1239.
Martire B, Panza R, Pillon M, Delvecchio M. CHARGE syndrome and common variable immunodeficiency: A case report and review of literature. Pediatr Allergy Immunol 2016;27:546-50.
Osakwe O, Jones B, Hirsch R. Anomalous origin of the left common carotid artery from the main pulmonary artery: a rare association in an infant with CHARGE syndrome. Case Rep Pediatr 2016;2016:2064937.
Patel N, Alkuraya FS. Overlap between CHARGE and Kabuki syndromes: more than an interesting clinical observation? Am J Med Genet A 2015;167A:259-60.
Pisaneschi E, Sirleto P, Lepri FR, et al. CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon. BMC Med Genet 2015;16:78.
Sánchez N, Hernández M, Cruz JP, Mellado C. Espectro fenotípico de Síndrome de CHARGE neonatal. Rev Chil Pediatr 2019;90:533-8. [Article in Spanish].
Searle LC, Graham JM Jr, Prasad C, Blake KD. CHARGE syndrome from birth to adulthood: an individual reported on from 0 to 33 years. Am J Med Genet A 2005;133A:344-9.
Siavrienė E, Petraitytė G, Mikštienė V, et al. A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report. BMC Med Genet 2019;20:127.
Squires LA, Dieffenbach AZ, Betz BW. Three malformation complexes related to neural crest development. Brain Dev 1998;20:183-5.
Talkowski ME, Ordulu Z, Pillalamarri V, et al. Clinical diagnosis by whole-genome sequencing of a prenatal sample. N Engl J Med 2012;367:2226-32.
Trip J, van Stuijvenberg M, Dikkers FG, Pijnenburg MW. Unilateral CHARGE association. Eur J Pediatr 2002;161:78-80.
Wael Alnahar B, Alsheikh AM, Alruhaimi AG, Abdulghani IA. Sporadic case of CHARGE syndrome with chromodomain-helicase-DNA-binding protein 7 (CDH7) gene mutation. Cureus 2020;12:e12291.
Wang S, Lin Y, Liang P, et al. De novo splice site mutation of the CHD7 gene in a Chinese patient with typical CHARGE syndrome. ORL J Otorhinolaryngol Relat Spec 2022;84:417-24.
Wells C, Loundon N, Garabedian N, et al. A case of mild CHARGE syndrome associated with a splice site mutation in CHD7. Eur J Med Genet 2016;59:195-7.
Yang HK, Choi BY, Kim JH, et al. CHARGE syndrome with oculomotor nerve palsy. J AAPOS 2015;19:555-7.
Corsten-Janssen N, Kerstjens-Frederikse WS, du Marchie Sarvaas GJ, et al. The cardiac phenotype in patients with a CHD7 mutation. Circ Cardiovasc Genet 2013;6:248-54.
Bergman JE, Blake KD, Bakker MK, et al. Death in CHARGE syndrome after the neonatal period. Clin Genet 2010;77:232-40.
Liu Y, Chen S, Zühlke L, et al. Global birth prevalence of congenital heart defects 1970-2017: updated systematic review and meta-analysis of 260 studies. Int J Epidemiol 2019;48:455-63.
Yang H, Zhu X, Wu C, et al. Assessment of persistent fifth aortic arch by echocardiography and computed tomography angiography. Medicine (Baltimore) 2020;99:e19297.
Bernheimer J, Friedberg M, Chan F, Silverman N. Echocardiographic diagnosis of persistent fifth aortic arch. Echocardiography 2007;24:258-62.
Tehrai M, Saidi B, Goudarzi M. Multi-detector computed tomography demonstration of double-lumen aortic arch--persistent fifth arch--as an isolated anomaly in an adult. Cardiol Young 2012;22:353-5.
Kirsch J, Julsrud PR. Magnetic resonance angiography of an ipsilateral double aortic arch due to persistent left fourth and fifth aortic arches. Pediatr Radiol 2007;37:501-2.
Alsoufi B, Gillespie S, Mahle WT, et al. The effect of noncardiac and genetic abnormalities on outcomes following neonatal congenital heart surgery. Semin Thorac Cardiovasc Surg 2016;28:105-14.
How to Cite
Polito, Maria Vincenza, Mario Ferraioli, Alessandra Nocilla, Guido Coppola, Federica D’Auria, Antonio Marzano, Luca Barnabei, Marisa Malinconico, Eduardo Bossone, and Francesco Ferrara. 2023. “CHARGE Syndrome and Congenital Heart Diseases: Systematic Review of Literature”. Monaldi Archives for Chest Disease 94 (3). https://doi.org/10.4081/monaldi.2023.2661.
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