Abstract
Aortic arch abnormalities are the least frequently prenatally diagnosed congenital cardiac abnormalities. Right aortic arch (RAA) identified in prenatal period is associated frequently with other cardiac/non-cardiac malformations, notably tracheal or esophageal compression and microdeletions 22q11. Intrauterine and postnatal survey of the fetus depends on these anomalies and their effects. Aortic arc variations, particularly RAA, can be diagnosed accurately by fetal echocardiography. Elaborated fetal cardiac and extracardiac evaluation should be undertaken in all cases of RAA by using Doppler ultrasound. Also cytogenetic testing for 22q11 microdeletions should be considered carefully. Nonetheless, it should be kept in mind that isolated RAA has a good prognosis, and in the majority of the patients, it is an asymptomatic vascular variant with a relatively low risk for chromosomal anomaly. In this paper with this case, we aim to evaluate the prenatal findings, associated conditions and prognosis of prenatally detected RAA anomalies in the light of literatures. J Clin Exp Invest 2015; 6 (2): 192-195
Keywords
Anatomic variation aortic arch anomaly congenital heart abnormalities fetal echocardiography prenatal diagnosis
References
- Berg C, Bender F, Soukup M, et al. Right aortic arch detected in fetal life. Ultrasound Obstet Gynecol 2006;28:882-889.
- Achiron R, Rotstein Z, Heggesh J, et al. Anomalies of the fetal aortic arch: a novel sonographic approach to in-utero diagnosis. Ultrasound Obstet Gynecol 2002;20:553-557.
- Carano N, Piazza P, Agnetti A, Squarcia U. Congenital
- pulmonary steal phenomenon associated with tetralogy of Fallot, right aortic arch, and isolation of the left subclavian artery. Pediatr Cardiol 1997;18:57-60.
- Yoo SJ, Min JY, Lee YH, et al. Fetal sonographic diagnosis of aortic arch anomalies. Ultrasound Obstet Gynecol 2003;22:535-546.
- Miranda JO, Callaghan N, Miller O, et al. Right aortic arch diagnosed antenatally: associations and outcome in 98 fetuses. Heart 2014;100:54-59.
- Gül A, Güngördük K, Yıldırım G. Perinatal outcomes and anomalies associated with fetal right aortic arch. J Turk Ger Gynecol Assoc 2012;13:184-186.
- Galindo A, Nieto O, Nieto MT, et al. Prenatal diagnosis of right aortic arch: associated findings, pregnancy outcome, and clinical significance of vascular rings. Prenat Diagn 2009;29:975-981.
- Boudjemline Y, Fermont L, Le Bidois J, et al. [Prenatal
- diagnosis of conotruncal heart diseases. Results in 337 cases]. Arch Mal Coeur Vaiss 2000;93:583-586.
- McElhinney DB, Clark BJ, Weinberg PM, et al. Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching. J Am Coll Cardiol 2001;37:2114–2119.
- Carotti A, Digilio MC, Piacentini G, et al. Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome. Dev Disabil Res Rev 2008;14:35-42.
- Rauch R, Rauch A, Koch A, et al. Laterality of the aortic arch and anomalies of the subclavian artery-reliable indicators for 22q11.2 deletion syndromes? Eur J Pediatr 2004;163:642-645.
- Chaoui R, Kalache KD, Heling KS, et al. Absent or hypoplastic thymus on ultrasound: a marker for deletion 22q11.2 in fetal cardiac defects. Ultrasound Obstet Gynecol 2002;20:546-552.
- Bonnard A, Auber F, Fourcade L, et al. Vascular ring
- abnormalities: a retrospective study of 62 cases. J Pediatr Surg 2003;38:539-543.
- Chun K, Colombani PM, Dudgeon DL, Haller JA Jr. Diagnosis and management of congenital vascular rings: A 22-year experience. Ann Thorac Surg 1992;53:597-602.
Abstract
Aortik ark anomalileri, konjenital kardiyak hastalıklar arasında prenatal olarak tanısı nadir konan bir anomalilerdir. Prenatal dönemde tespit edilen sağ aortik ark (SAA), özellikle trakeal veya özefageal kompresyon, 22q11 mikrodelesyonları, kardiyak ve/veya ekstra kardiyak malformasyonlarla izlenebilmektedir. Fetüsün intrauterin ve postnatal sağkalımı bu anomalilerin etkilerine bağlıdır. Özellikle SAA olmak üzere aortik ark varyasyonlarının fetal ekokardiyografi ile başarılı bir şekilde tanısı konabilmektedir. Tüm SAA olgularında Doppler ultrason kullanarak hem kardiyak hem ektrakardiyak çok detaylı değerlendirme yapılmalıdır. Ayrıca 22q11 mikrodelesyonlarının tespiti için sitogenetik analiz dikkatlice değerlendirilmelidir. Yinede izole SAA’nın iyi bir prognozunun olduğu ve çoğu hastada kromozomal anomali riskinin nispeten düşük olduğu asemptomatik vasküler bir varyant olduğu akılda tutulmalıdır. Bu yazıda, fetal dönemde tespit edilen bir SAA olgusunun prenatal bulgularını, birlikte olduğu durumları ve prognozunu literatür ışığında değerlendirmeyi amaçladık.
Anahtar kelimeler: Anatomik varyasyon, aort ark anomalisi, konjenital kalp anomalileri, fetal ekokardiyografi, prenatal tanı
Keywords
Anatomik varyasyon aort ark anomalisi konjenital kalp anomalileri fetal ekokardiyografi prenatal tanı
References
- Berg C, Bender F, Soukup M, et al. Right aortic arch detected in fetal life. Ultrasound Obstet Gynecol 2006;28:882-889.
- Achiron R, Rotstein Z, Heggesh J, et al. Anomalies of the fetal aortic arch: a novel sonographic approach to in-utero diagnosis. Ultrasound Obstet Gynecol 2002;20:553-557.
- Carano N, Piazza P, Agnetti A, Squarcia U. Congenital
- pulmonary steal phenomenon associated with tetralogy of Fallot, right aortic arch, and isolation of the left subclavian artery. Pediatr Cardiol 1997;18:57-60.
- Yoo SJ, Min JY, Lee YH, et al. Fetal sonographic diagnosis of aortic arch anomalies. Ultrasound Obstet Gynecol 2003;22:535-546.
- Miranda JO, Callaghan N, Miller O, et al. Right aortic arch diagnosed antenatally: associations and outcome in 98 fetuses. Heart 2014;100:54-59.
- Gül A, Güngördük K, Yıldırım G. Perinatal outcomes and anomalies associated with fetal right aortic arch. J Turk Ger Gynecol Assoc 2012;13:184-186.
- Galindo A, Nieto O, Nieto MT, et al. Prenatal diagnosis of right aortic arch: associated findings, pregnancy outcome, and clinical significance of vascular rings. Prenat Diagn 2009;29:975-981.
- Boudjemline Y, Fermont L, Le Bidois J, et al. [Prenatal
- diagnosis of conotruncal heart diseases. Results in 337 cases]. Arch Mal Coeur Vaiss 2000;93:583-586.
- McElhinney DB, Clark BJ, Weinberg PM, et al. Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching. J Am Coll Cardiol 2001;37:2114–2119.
- Carotti A, Digilio MC, Piacentini G, et al. Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome. Dev Disabil Res Rev 2008;14:35-42.
- Rauch R, Rauch A, Koch A, et al. Laterality of the aortic arch and anomalies of the subclavian artery-reliable indicators for 22q11.2 deletion syndromes? Eur J Pediatr 2004;163:642-645.
- Chaoui R, Kalache KD, Heling KS, et al. Absent or hypoplastic thymus on ultrasound: a marker for deletion 22q11.2 in fetal cardiac defects. Ultrasound Obstet Gynecol 2002;20:546-552.
- Bonnard A, Auber F, Fourcade L, et al. Vascular ring
- abnormalities: a retrospective study of 62 cases. J Pediatr Surg 2003;38:539-543.
- Chun K, Colombani PM, Dudgeon DL, Haller JA Jr. Diagnosis and management of congenital vascular rings: A 22-year experience. Ann Thorac Surg 1992;53:597-602.
Details
| Primary Language | Turkish |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | July 13, 2015 |
| Published in Issue | Year 2015 Volume: 6 Issue: 2 |