Osman YILMAZ, Selmin KARADEMİR, Filiz ŞENOCAK, Utku Arman ÖRÜN, Özben CEYLAN, Senem ÖZGÜR, Mahmut KESKİN, Meki BİLİCİ

Cardiovascular findings of children with Marfan syndrome

Amaç: Bu çalışmamızın amacı, Marfan sendromlu (MS) olgularda yapısal kalp hastalıklarının sıklığını araştırmak ve klinik izlemin önemini ortaya koymaktır. Gereç ve yöntem: Ocak 2005-Mart 2010 tarihleri arasın- da Çocuk Kardiyolojisi bölümüne başvuran ve Ghent kri- terlerine göre MS tanısı konan 17 hasta çalışmaya alındı. Hastalar kardiovasküler sistem muayenelerinin yanı sıra göz ve genetik bakımından da değerlendirildi. Hastaların fizik inceleme bulguları, ekokardiyografik ve radyolojik in- celemeleri geriye dönük olarak irdelendi. Bulgular: Çalışmaya alınan 17 olgunun 9’u kız, 8’i erkek olup, yaşları 1 ay-17 yıl (ort. 9.7 yıl) arasında değişmekte idi. Hastaların 5’inde anne ve baba arasında 2. derecede akrabalık vardı. Hastaların başvuru yakınmaları arasın- da en fazla solunum sıkıntısı, bayılma, göğüs ağrısı ve çarpıntı görüldü. Hastaların 13’ünde iskelet sistemine ait bulgular görülürken, 4 hastada lens subluksasyonu sap- tandı. İki hastada aile anamnezi pozitifti. Kardiyovasküler bulgular incelendiğinde, hastaların 8’inde aort kökü dila- tasyonu ile birlikte mitral valv prolapsusu ve/veya triküspit valv prolapsusu, 3’ünde mitral valv prolapsusu, 3’ünde sadece aort kökü dilatasyonu, 3’ünde mitral valv prolap- susu ve triküspit valv prolapsusu vardı. İzlem süresi ort. 2.6 yıl olup bu süre içinde aorta anevrizması ve rüptürü gözlenmedi. Sonuç: Marfan sendromlu hastalarda önemli yapısal kalp hastalıklarının görülmesi nedeniyle kardiyolojik olarak de- ğerlendirilmesi ve düzenli izlemleri yapılmalıdır.

Marfan sendromlu çocukların kardiyolojik bulguları

Objectives: The aim of our study is to investigate the frequency of structural heart diseases in patients with Marfan syndrome (MS) and to reveal the importance of clinical follow-up in MS. Materials and methods: Study population consisted of 17 patients admitted to the Pediatric Cardiology depart- ment between January 2005 and March 2010 with the diagnosis of MS according to the Ghent criteria. Patients were evaluated for the eye, genetic and the cardiovascu- lar system abnormalities. Physical examination findings, echocardiographic, and radiological examinations of the patients were evaluated retrospectively. Results: Of the 17 cases, 9 were girls and 8 were males, ages ranged from 1 month to 17 years (mean 9.7 years). There was a second degree of kinship between mothers and fathers in 5 patients. Respiratory distress, syncope, chest pain and palpitation were the most seen in the presentation complaint of the patients. Skeletal findings observed in 13 patients, 4 patients had subluxation of the lens. Two patients had positive family history. When cardiovascular findings were examined, there were aortic root dilatation with mitral valve prolapse and/or tricuspid valve prolapse in 8 patients, mitral valve prolapse in 3 patients only aortic root dilatation in 3 patients and mitral valve prolapse and tricuspid valve prolapse in 3 patients. Mean follow-up period was 2.6 years, aneurysm and rup- ture of the aorta wasn’t observed during this period. Conclusion: In patients with Marfan syndrome, regular follow-up and cardiological evaluation should be done be- cause significant structural heart diseases can be seen in these patients.

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