Cardiovascular findings of children with Marfan syndrome

Abstract

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 department 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 cardiovascular 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 rupture of the aorta wasn\'t observed during this period. Conclusion: In patients with Marfan syndrome, regular follow-up and cardiological evaluation should be done because significant structural heart diseases can be seen in these patients. J Clin Exp Invest 2012; 3(2): 199-201

Keywords

• Marfan syndrome, aortic root dilatation, mitral valve prolapse

Marfan sendromlu çocukların kardiyolojik bulguları

Öz

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 arasında Çocuk Kardiyolojisi bölümüne başvuran ve Ghent kriterlerine 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 incelemeleri 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 arasında en fazla solunum sıkıntısı, bayılma, göğüs ağrısı ve çarpıntı görüldü. Hastaların 13'ünde iskelet sistemine ait bulgular görülürken, 4 hastada lens subluksasyonu saptandı. İki hastada aile anamnezi pozitifti. Kardiyovasküler bulgular incelendiğinde, hastaların 8'inde aort kökü dilatasyonu 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 prolapsusu 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 değerlendirilmesi ve düzenli izlemleri yapılmalıdır.

Anahtar Kelimeler

• Marfan sendromu, aort kökü genişlemesi, mitral kapak prolapsusu

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