CHARGE syndrome together with middle aortic syndrome

Abstract

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.

Keywords

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Middle aortik sendromla ilişkili CHARGE sendromu

Abstract

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.

Keywords

• CHARGE sendromu, konjenital kalp hastalığı, middle aortik sendrom

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