Abstract
Supravalvüler aort darlığı, en az görülen sol ventrikül çıkım yolu darlığıdır. Darlık sıklıkla sinotübüler bölgeden başlar. Supravalvüler aort darlığının Williams sendromu ile birlikte görülme ihtimali yüksektir. Olguların çoğu, yedinci kromozomda yer alan elastin genindeki bir mutasyona bağlı olarak meydana gelir. Hastaların büyük bir kısmında kum saati şeklinde fokal bir darlık olarak karşımıza çıkar. Bu darlık nedeniyle sol ventrikülde hipertrofi ve dilatasyon olur. Girişim endikasyonu olan hastalarda sol ventrikül fonksiyonlarında bozulma olmadan ve koroner arterler etkilenmeden önce cerrahi tedavi uygulanması çok önemlidir. Makalede, ciddi supravalvüler aort darlığı olan ve genetik incelemede Williams sendromu tespit edilmeyen 11 yaşında bir olgu bildirildi ve nadir görülen bu durum, son literatür bilgileri eşliğinde tartışıldı.
Keywords
References
- Allen HD, Driscoll DJ, Shaddy RE, Feltes TF. Moss & Adams’ Heart Disease in Infants, Children and Adolescents. Schneider DJ, Moore JW (ed). Aortic stenosis. Lippincott Williams Wilkins, 2013:1023- 43.
- Park MK. Park’s Pediatric Cardiology for Practitioners. Obstructive Lesions. Elsevier Saunders, 2014:184-205.
- Ergul Y, Nisli K, Kayserili H, Karaman B, Basaran S, Koca B, et al. Cardiovascular abnormalities in Williams syndrome: 20 years’ experience in Istanbul. Acta Cardiol 2012;67:649-55.
- Da Cruz EM, Ivy D, Jaggers J. Pediatric and congenital cardiology, cardiac surgery and intensive care. In: Mitchell MB, da Cruz EM (ed). Supravalvar Aortic Stenosis. London: Springer-Verlag, 2014:1615-29.
- Williams JCP, Barratt-Boyes BG, Lowe JB. Supravalvar aortic stenosis. Circulation 1961;24:1311-18.
- Beuren AJ, Schulze C, Eberle P, Harmjanz D, Apitz J. The syndrome of supravalvular aortic stenosis, peripheral pulmonary stenosis, mental retardation and similar facial appearance. Am J Cardiol 1964;13:471-83.
- Jonas RA. Comprehensive surgical management of congenital heart disease. In: Jonas RA (ed). Left Ventricular Outflow Tract Obstruction: Aortic Valve Stenosis, Subaortic Stenosis and Supravalvar Aortic Stenosis. 2nd ed. Florida: CRC Press, 2014:421-44.
Abstract
Supravalvular aortic stenosis is the left ventricle outflow tract stenosis that has the lowest rate of incidence. The stenosis frequently starts at the sinotubular area. The possibility for concordance of supravalvular aortic stenosis with Williams syndrome is high. The majority of cases develop due to a mutation in the elastin gene located in the seventh chromosome. It occurs in a large percentage of the patients as a focal stenosis shaped as an hourglass. Due to this stenosis, hypertrophy and dilatation occur in the left ventricle. It is very important to perform the surgical treatment without deteriorating the left ventricle functions and compromising the coronary arteries in patients where an intervention is indicated. This article presents an 11-year-old case who had serious supravalvular aortic stenosis and was not identified as suffering from Williams syndrome with genetic evaluation, and we discuss this rare case in the light of the latest literature data
Keywords
References
- Allen HD, Driscoll DJ, Shaddy RE, Feltes TF. Moss & Adams’ Heart Disease in Infants, Children and Adolescents. Schneider DJ, Moore JW (ed). Aortic stenosis. Lippincott Williams Wilkins, 2013:1023- 43.
- Park MK. Park’s Pediatric Cardiology for Practitioners. Obstructive Lesions. Elsevier Saunders, 2014:184-205.
- Ergul Y, Nisli K, Kayserili H, Karaman B, Basaran S, Koca B, et al. Cardiovascular abnormalities in Williams syndrome: 20 years’ experience in Istanbul. Acta Cardiol 2012;67:649-55.
- Da Cruz EM, Ivy D, Jaggers J. Pediatric and congenital cardiology, cardiac surgery and intensive care. In: Mitchell MB, da Cruz EM (ed). Supravalvar Aortic Stenosis. London: Springer-Verlag, 2014:1615-29.
- Williams JCP, Barratt-Boyes BG, Lowe JB. Supravalvar aortic stenosis. Circulation 1961;24:1311-18.
- Beuren AJ, Schulze C, Eberle P, Harmjanz D, Apitz J. The syndrome of supravalvular aortic stenosis, peripheral pulmonary stenosis, mental retardation and similar facial appearance. Am J Cardiol 1964;13:471-83.
- Jonas RA. Comprehensive surgical management of congenital heart disease. In: Jonas RA (ed). Left Ventricular Outflow Tract Obstruction: Aortic Valve Stenosis, Subaortic Stenosis and Supravalvar Aortic Stenosis. 2nd ed. Florida: CRC Press, 2014:421-44.
Details
| Other ID | JA98MT32GK |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | April 1, 2017 |
| Submission Date | April 1, 2017 |
| Published in Issue | Year 2017 Volume: 11 Issue: 1 |
The publication language of Turkish Journal of Pediatric Disease is English.
Manuscripts submitted to the Turkish Journal of Pediatric Disease will go through a double-blind peer-review process. Each submission will be reviewed by at least two external, independent peer reviewers who are experts in the field, in order to ensure an unbiased evaluation process. The editorial board will invite an external and independent editor to manage the evaluation processes of manuscripts submitted by editors or by the editorial board members of the journal. The Editor in Chief is the final authority in the decision-making process for all submissions. Articles accepted for publication in the Turkish Journal of Pediatrics are put in the order of publication, with at least 10 original articles in each issue, taking into account the acceptance dates. If the articles sent to the reviewers for evaluation are assessed as a senior for publication by the reviewers, the section editor and the editor considering all aspects (originality, high scientific quality and citation potential), it receives publication priority in addition to the articles assigned for the next issue.
The aim of the Turkish Journal of Pediatrics is to publish high-quality original research articles that will contribute to the international literature in the field of general pediatric health and diseases and its sub-branches. It also publishes editorial opinions, letters to the editor, reviews, case reports, book reviews, comments on previously published articles, meeting and conference proceedings, announcements, and biography. In addition to the field of child health and diseases, the journal also includes articles prepared in fields such as surgery, dentistry, public health, nutrition and dietetics, social services, human genetics, basic sciences, psychology, psychiatry, educational sciences, sociology and nursing, provided that they are related to this field. can be published.