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CHARGE syndrome together with middle aortic syndrome

Yıl 2012, Cilt: 18 Sayı: 2, 109 - 112, 01.03.2012

Öz

CHARGE syndrome is a rarely encountered syndrome characterized by eye and ear anomalies, as well as cardiac defects, genital hypoplasia, coanal atresia, and brain anomalies. Multidisciplinary approach is mandatory in such patients. In particular, detailed cardiac and ophthalmologic examination should be performed, and the patient should be evaluated in terms of audiometric test and genital organs. A two-month-old baby was brought to our clinic with weakness, fatigue, irritability, vomiting, feeding difficulty, and rapid respiration picture. On her physical examination, general status was poor; arrhythmia, tachycardia, and gallop rhythm were detected on cardiac examination and a 5-6 cm hepatomegaly was detected on abdominal examination. In chest radiograph revealed cardiomegaly; In electrocardiography (ECG) revealed atrial flutter attacks with 1:1 rhythm; transthoracic echocardiography revealed dilated cardiomyopathy (EF; 35%, FS; 16%), aortic coarctation in the aortic arch and in the thin, classical part of descending aorta (mean gradient; 30-35 mmHg), and fine patent ductus arteriosus. During the catheterization, tubular hypoplasia of the aortic arch and istmic aortic coarctation, and hypoplasia was observed in the thoracic and abdominal aorta. The patient was considered to have middle aortic syndrome. Moreover, ocular coloboma and retardation of growth and development were identified in the patient. Cardiac and ophthalmic signs together with the signs of retardation of growth and development were considered probable CHARGE syndrome according to the diagnostic criteria reviewed in 2003. Dilated cardiomyopathy secondary to aortic coarctation is a common condition. Dilated cardiomyopathy improves with appropriate and effective therapy. The prevalence of concurrency of CHARGE syndrome and congenital cardiac disease is 60-70%. Different pictures of congenital cardiac disease can be seen. We, here, introduced a case considered to have CHARGE syndrome together with middle aortic syndrome, the concurrency of which has been seen very little.

Kaynakça

  • 1. 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(2):223-7.
  • 2. Civitelli S, Pelizzo G, La Riccia A. Charge syndrome: long-term survival. Report of a case. Pediatr Med Chir 2001;23(1):69-70. 3. Hall BD. Choanal atresia and associated multiple anomalies. J Pediatr 1979;95(3):395-8.
  • 4. Sethna CB, Kaplan BS, Cahill AM, Velazquez OC, Meyers KE. Idiopathic mid-aortic syndrome in children. Pediatr Nephrol 2008;23(7):1135-42.
  • 5. Sen PK, Kinare SG, Engineer SD, Parulkar GB. The middle aortic syndrome. Br Heart J 1963;25:610-8.
  • 6. Bahnson HT, Cooley RN, Sloan RD. Coarctation of the aorta at unusual sites; report of two cases with angiocardiographic and operative findings. Am Heart J 1949;38(6):905-13.
  • 7. Lin AE, Siebert JR, Graham JM Jr. Central nervous system malformations in the CHARGE association. Am J Med Genet 1990;37(3):304-10.
  • 8. Blake KD, Davenport SL, Hall BD, Hefner MA, Pagon RA, Williams MS, et al. CHARGE association: an update and review for the primary pediatrician. Clin Pediatr (Phila) 1998;37(3):159-73.
  • 9. Lawand C, Graham JM, Jr, Prasad C, Blake KD. CHARGE association / syndrome: Looking ahead. Published by the Canadian Pediatric Surveillance Program (CPSP) 2003 Resources.
  • 10. Tellier AL, Lyonnet S, Cormier-Daire V, de Lonlay P, Abadie V, Baumann C, et al. Increased paternal age in CHARGE association. Clin Genet 1996;50(6):548-50.
  • 11. Sumboonnanonda A, Robinson BL, Gedroyc WM, Saxton HM, Reidy JF, Haycock GB. Middle aortic syndrome: clinical and radiological findings. Arch Dis Child 1992;67(4):501-5.
  • 12. Rabellino M, Garcia-Nielsen L, Gonzalez G, Baldi S, Zander T, Maynar M. Middle aortic syndrome percutaneous treatment with a balloon-expandable covered stent. J Am Coll Cardiol 2010;56(6):521.
  • 13. Lee LC, Broadbent V, Kelsall W. Neuroblastoma in an infant revealing middle aortic syndrome. Med Pediatr Oncol 2000;35(2):150-2.
  • 14. Hall EK, Glatz J, Kaplan P, Kaplan BS, Hellinger J, Ernst L, et al. A case report of rapid progressive coarctation and severe middle aortic syndrome in an infant with Williams syndrome. Congenit Heart Dis 2009;4(5):373-7.
  • 15. Delis KT, Gloviczki P. Middle aortic syndrome: from presentation to contemporary open surgical and endovascular treatment. Perspect Vasc Surg Endovasc Ther 2005;17(3):187- 203.

Middle aortik sendromla ilişkili CHARGE sendromu

Yıl 2012, Cilt: 18 Sayı: 2, 109 - 112, 01.03.2012

Öz

CHARGE sendromu, göz ve kulak anomalileri, kalp defektleri, genital hipoplazi, koanal atrezi ve beyin anomalileriyle karakterize nadir görülen bir sendromdur. Bu tür hastalara multidisipliner yaklaşım şarttır. Özellikle ayrıntılı kardiyak ve göz muayenesi yapılmalı, işitme testi ve genital yönden değerlendirilmelidir. İki aylık kız hasta kliniğimize halsizlik, yorgunluk, huzursuzluk, kusma, beslenme zorluğu ve hızlı nefes alıp-verme tablosu ile başvurdu. Yapılan fizik muayenesinde genel durum düşkünlüğü, solukluk, kalp muayenesinde aritmi, taşikardi, gallop ritmi, karın muayenesinde ise 5-6 cm hepatomegalisinin olduğu saptandı. Akciğer grafisinde kardiyomegali, elektrokardiyografisinde (EKG) bire bir iletili atriyal flutter atakları ve yapılan transtorasik ekokardiyografisinde dilate kardiyomiyopati (EF; %35, FS; %16), arkus aorta ve inen aorta ince, klasik yerinde aort koarktasyonu (gradiyent ortalama; 30-35 mmHg) ve ince patent duktus arteriozusun olduğu görüldü. Hastanın yapılan kateterizasyonunda arkus aorta, torasik aorta ve abdominal aortanın tübüler tarzda hipoplazik ve klasik yerinde aort koarktasyonu olduğu görüldü. Hasta middle aortik sendromu olarak değerlendirildi. Ayrıca hastada oküler koloboma ve büyüme gelişme geriliği tespit edildi. Kardiyak, göz ve büyüme gelişme geriliği bulguları ile 2003 yılında yeniden gözden geçirilen tanı kriterlerine göre olası CHARGE sendromu olarak değerlendirildi. Aort koarktasyonu sonrası sekonder dilate kardiyomiyopati yaygın görülen bir durumdur. Uygun ve etkili tedavi ile dilate kardiyomiyopati düzelmektedir. CHARGE sendromu ile konjenital kalp hastalığı birlikteliği %60-70 oranındadır. Farklı konjenital kalp hastalıkları tablosu görülebilir. Middle aortik sendromu ile CHARGE sendromunun birlikte görüldüğü olgu sayısı az olmasından dolayı olguyu sunmayı amaçladık.

Kaynakça

  • 1. 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(2):223-7.
  • 2. Civitelli S, Pelizzo G, La Riccia A. Charge syndrome: long-term survival. Report of a case. Pediatr Med Chir 2001;23(1):69-70. 3. Hall BD. Choanal atresia and associated multiple anomalies. J Pediatr 1979;95(3):395-8.
  • 4. Sethna CB, Kaplan BS, Cahill AM, Velazquez OC, Meyers KE. Idiopathic mid-aortic syndrome in children. Pediatr Nephrol 2008;23(7):1135-42.
  • 5. Sen PK, Kinare SG, Engineer SD, Parulkar GB. The middle aortic syndrome. Br Heart J 1963;25:610-8.
  • 6. Bahnson HT, Cooley RN, Sloan RD. Coarctation of the aorta at unusual sites; report of two cases with angiocardiographic and operative findings. Am Heart J 1949;38(6):905-13.
  • 7. Lin AE, Siebert JR, Graham JM Jr. Central nervous system malformations in the CHARGE association. Am J Med Genet 1990;37(3):304-10.
  • 8. Blake KD, Davenport SL, Hall BD, Hefner MA, Pagon RA, Williams MS, et al. CHARGE association: an update and review for the primary pediatrician. Clin Pediatr (Phila) 1998;37(3):159-73.
  • 9. Lawand C, Graham JM, Jr, Prasad C, Blake KD. CHARGE association / syndrome: Looking ahead. Published by the Canadian Pediatric Surveillance Program (CPSP) 2003 Resources.
  • 10. Tellier AL, Lyonnet S, Cormier-Daire V, de Lonlay P, Abadie V, Baumann C, et al. Increased paternal age in CHARGE association. Clin Genet 1996;50(6):548-50.
  • 11. Sumboonnanonda A, Robinson BL, Gedroyc WM, Saxton HM, Reidy JF, Haycock GB. Middle aortic syndrome: clinical and radiological findings. Arch Dis Child 1992;67(4):501-5.
  • 12. Rabellino M, Garcia-Nielsen L, Gonzalez G, Baldi S, Zander T, Maynar M. Middle aortic syndrome percutaneous treatment with a balloon-expandable covered stent. J Am Coll Cardiol 2010;56(6):521.
  • 13. Lee LC, Broadbent V, Kelsall W. Neuroblastoma in an infant revealing middle aortic syndrome. Med Pediatr Oncol 2000;35(2):150-2.
  • 14. Hall EK, Glatz J, Kaplan P, Kaplan BS, Hellinger J, Ernst L, et al. A case report of rapid progressive coarctation and severe middle aortic syndrome in an infant with Williams syndrome. Congenit Heart Dis 2009;4(5):373-7.
  • 15. Delis KT, Gloviczki P. Middle aortic syndrome: from presentation to contemporary open surgical and endovascular treatment. Perspect Vasc Surg Endovasc Ther 2005;17(3):187- 203.
Toplam 14 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Makaleler
Yazarlar

Ahmet İrdem Bu kişi benim

Osman Başpınar Bu kişi benim

Mehmet Kervancıoğlu Bu kişi benim

Metin Kılınç Bu kişi benim

Yayımlanma Tarihi 1 Mart 2012
Yayımlandığı Sayı Yıl 2012 Cilt: 18 Sayı: 2

Kaynak Göster

APA İrdem, A., Başpınar, O., Kervancıoğlu, M., Kılınç, M. (2012). Middle aortik sendromla ilişkili CHARGE sendromu. Gaziantep Medical Journal, 18(2), 109-112.
AMA İrdem A, Başpınar O, Kervancıoğlu M, Kılınç M. Middle aortik sendromla ilişkili CHARGE sendromu. Gaziantep Medical Journal. Mart 2012;18(2):109-112.
Chicago İrdem, Ahmet, Osman Başpınar, Mehmet Kervancıoğlu, ve Metin Kılınç. “Middle Aortik Sendromla ilişkili CHARGE Sendromu”. Gaziantep Medical Journal 18, sy. 2 (Mart 2012): 109-12.
EndNote İrdem A, Başpınar O, Kervancıoğlu M, Kılınç M (01 Mart 2012) Middle aortik sendromla ilişkili CHARGE sendromu. Gaziantep Medical Journal 18 2 109–112.
IEEE A. İrdem, O. Başpınar, M. Kervancıoğlu, ve M. Kılınç, “Middle aortik sendromla ilişkili CHARGE sendromu”, Gaziantep Medical Journal, c. 18, sy. 2, ss. 109–112, 2012.
ISNAD İrdem, Ahmet vd. “Middle Aortik Sendromla ilişkili CHARGE Sendromu”. Gaziantep Medical Journal 18/2 (Mart 2012), 109-112.
JAMA İrdem A, Başpınar O, Kervancıoğlu M, Kılınç M. Middle aortik sendromla ilişkili CHARGE sendromu. Gaziantep Medical Journal. 2012;18:109–112.
MLA İrdem, Ahmet vd. “Middle Aortik Sendromla ilişkili CHARGE Sendromu”. Gaziantep Medical Journal, c. 18, sy. 2, 2012, ss. 109-12.
Vancouver İrdem A, Başpınar O, Kervancıoğlu M, Kılınç M. Middle aortik sendromla ilişkili CHARGE sendromu. Gaziantep Medical Journal. 2012;18(2):109-12.