1. Facial Dysmorphism with Precordial Systolic Murmur of a Young Boy

2. 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.

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

4. 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.

5. . 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 .

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

7. 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.

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

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

10. 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.

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

13. Supravalvular Aortic stenosis & MVP(Mitral valve prolapse)

14. Chest X-ray, 12 leads ECG shows normal findings

15. investigation

16. Investigation

17. Mal-alignment of teeth

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

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

20. WILLIAMS SYNDROME

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

22. 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

23. 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.

24. We like to pay honor to JCP Williams

25. Visit Bangladesh

26. THANK YOU ALL