Facial Dysmorphism with Precordial Systolic Murmur of a Young Boy

Master” X” , 7 years old boy admitted in cardiology department, Mymensingh Medical College, on 6th December,2016 with 1.Gradual increasing breathlessness during playing for 4 years . 2. Recurrent Watery discharge from right eye for 5 years.

According to his parents statement he was unwell since his birth. He repeatedly suffered from respiratory tract infection.

This child also having , large forehead, malocclusion of multiple teeth, dental carries, small chin, puffiness around both eye, looks like “elfin facies” with low IQ.

. He likes music & dances with music But his school performance is not satisfactory & he is in the same class for last 3 years .His writing & memorizing capability is poor .

Precordial examination revealed, systolic Thrill and murmur (Grade-4/6) in the base of the heart.

Developmental History Gross motor : Neck control : 7 months Sitting : 12 months Walking : 2 years. Fine motor & vision : Age appropriate Speech, language & hearing : Age appropriate Cognitive function: Impaired, about 4 to 5 years age level.

This child also having blockage of naso-lacrimal duct, causing of watering of eye.

In all the family members, evidence of congenital anomaly or mental retardation was not found.

Echocardioghraphy showed normal chamber size, normal aortic valve leaflet but supravalvular aortic stenosis due to narrowing of ascending aorta And MVP(Mitral Valve Prolapse) Normal other valvular structure and pulmonary artery.

Echo, Doppler gradient found in the just supra-valvular area, 128mmHg(Supra-valvular Aortic stenosis) & MVP(Mitra valve prolapsed).

Supravalvular Aortic stenosis & MVP(Mitral valve prolapse)

Chest X-ray, 12 leads ECG shows normal findings

investigation

Investigation

Mal-alignment of teeth

Other laboratory parameter, like Hb%, ESR, Serum Calcium, Blood sugar level was normal.

According to primary symptoms, clinical finding such as dysmorphic facies, cognitive disorder and congenital supravalvular aortic stenosis, Williams Syndrome, the first diagnosis.

WILLIAMS SYNDROME

Investigation for genetic confirmation Fluorescent in Situ Hybridization (FISH) test.

Treatment Multi-specialty approach Corrective Surgery of narrowing part of Ascending Aorta. Probing of the Nasolacrimal duct Cognitive behavior therapy Avoidance of calcium reach food

We should keep in mind and give more attention for evaluating heart murmur in childhood, especially when the patient has abnormal facial dysmorphism or mental retardation.

We like to pay honor to JCP Williams

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