Balkan Journal of Medical Genetics

EARLY ONSET MARFAN SYNDROME: ATYPICAL CLINICAL PRESENTATION OF TWO CASES
Ozyurt A, Baykan A, Argun M, Pamukcu O, Halis H, Korkut S, Yuksel Z, Gunes T, Narin N
*Corresponding Author: Abdullah Ozyurt, M.D., Division of Pediatric Cardiology, Erciyes University Faculty of Medicine, Kayseri, Turkey, 38039. Tel: +903522076666, Ext. 25036. Fax: +903524375825. E-mail: duruozyurt@yahoo.com.tr
page: 71

CLINICAL REPORT

Case 1. A 30-day-old female infant was born to a 21-year-old (gravida 3, parity 2) healthy mother through spontaneous vaginal delivery at week 39 of gestation. The prenatal history of the mother indicated a regular prenatal care and a fetal ultrasound which could not find any abnormalities. There was no consanguinity between the parents and both of them were phenotypically normal. The infant was admitted to the pediatric emergency service with palpitation on the 30th day after birth. On admission, her medical state was serious and she was pale in appearance. The size of the anterior fontanelle was measured as 2 cm (mean) and the size of the posterior fontanel was measured as 0.5 cm (55th centile). On physical examination, arachnodactyly in fingers and toes (Figure 1a and 1b), prominent forehead, flat nose, high palate, low-set ears, enophtalmos, dolicocephaly, articular laxity particularly in wrists and ankles and a wrist sign was noted. Her weight was 4060 g (75- 97th percentile), height was 62 cm (>97th percentile), arm span was 65 cm (>97th percentile) (arm span/ height ratio: 1.04), upper segment (US) was 40 cm, lower segment (LS) was 25 cm (US/LS: 1.6). No pathological reflex was detected in her neurological examination, however, a generalized hypotonia was noted. Heart auscultation revealed a 3/6 systolic murmur along the left sternal border and a gallop rhythm. The liver was palpable approximately 4 cm below the right costal margin. The heart rate was 168/ min., respiratory rate was found as 70/min. The chest X-radiograph (CXR) revealed cardiomegaly. She underwent an echocardiographic evaluation that demonstrated dextrocardia, mitral valve prolapses (MVP) (Figure 2a and 2b), severe mitral insufficiency (Mi) (Figure 2c), moderate tricuspid insufficiency, slightly insufficient aortic valve (Ai) (Figure 2c) and dilated left ventricle (LVEDd: 23 cm, Z score: 3.1); aortic root measurements were as follows: Ao: 12 mm, Z score: 2.17. The patient was diagnosed with eoMFS based on the clinical and echocardiographic findings. The patient’s blood level of homocysteine was found within normal limits. The eye examination did not reveal any abnormality. A mega cisterna magna was detected by transfontanelle ultrasound examination. She developed a supraventricular tachycardia (SVT) on the second day of observation. She was diagnosed with nosocomial pneumonia on the 20th day after the admission. She developed respiratory arrest on the 25th day and consequently she was intubated and mechanical ventilator support was provided. The infant died on the 38th day after her admission (68 days after birth) due to multiple organ failure resulting from cardiogenic shock. Case 2. A 4-month-old boy was admitted with history of nausea, vomiting, cough and lack of appetite. Marfanoid features were detected on physical examination. His facial features were typical of MFS, the leg and arm length were measured as 27 and 20 cm, respectively. The US/LS was 0.74 (normal: <0.85), arachnodactyly and positive thumb signs were present, the joints were hyperextensible. The subcutaneous fat tissue was decreased. He had dolichocephaly with large frontal fontanel (1 × 2 cm) along with craniosynostosis (Figure 1c, 1d and 1e). Chest examination revealed a pectus excavatum deformity. In his cardiac examination, a 3/6 systolic murmur was heard on the left sternal border. The CXR revealed right pericardial infiltration, cardiomegaly, aortic root dilatation and left atrial enlargement. An echocardiogram demonstrated a normal sinus rhythm with a right axis deviation, biatrial dilatation and biventricular hypertrophy. Aortic root dilatation, MVP, minimal aortic valve insufficiency, severe mitral valve insufficiency and patent foramen ovale were detected in echocardiographic evaluation. Cranial computerized tomography (CT) scans revealed craniosynostosis in metopic and bilateral coronal sutures. Due to his Marfanoid features along with MVP and aortic root dilation, the patient was diagnosed as eoMFS.

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