Case Report:
A 7-year-old girl presented to our children hospital with exertional
dyspnea and easy fatigability and frequent respiratory tract infections.
The patients did not have any significant antenatal, natal, and neonatal
history. She had normal intelligence and was doing well at school. The
lips and fingernails were mildly cyanotic without clubbing. The oxygen
saturation was 85% by pulse oximetry on room air. Arterial blood gas on
room air showed hypoxia with PaO2 of 50 mmHg and SaO2of 83%. On general
examination, she had short stature, narrow thorax, short fingers and
toes, bilateral polydactyly of hands (Figure 1) and left foot.
Fingernails and toenails were markedly hypoplastic, thin and wrinkled.
In oral examination, anterior teeth were conical. Examination of the
cardiovascular system revealed a 3/6 short systolic murmur at the left
lower sternal border and a loud second heart sound. The
electrocardiogram revealed left axis deviation, with complete right
bundle branch block in leads V1,V2. The chest X-ray showed cardiomegaly
with dilated main pulmonary artery and its branches. Transthoracic
echocardiogram (TTE) showed common atrium and PAVSD with moderate mitral
regurgitation (MR), mild tricuspid valve regurgitation, and moderate
pulmonary hypertension. A clinical diagnosis of EVC syndrome was
established. Based on the pre-operative findings, the patient was
planned for surgical repair of PAVSD and common atrium. The operation
was performed through median sternotomy. Total cardiopulmonary bypass
was prepared, the aorta was cross-clamped, and the heart was arrested by
antegrade cardioplegic solution. A right atrial incision was made
parallel to the right atrioventricular groove, and the intracardiac
anatomy was explored. There was DOMV (Figure 2), which was not diagnosed
by preoperative TTE. The greater orifice of the mitral valve was similar
to that in the classic PAVSD, and consisted of three leaflets (left
superior leaflet (LSL), left inferior leaflet (LIL), and left lateral
leaflet). This orifice (The greater one) of the mitral valve was
repaired by suturing the free edges of LSL and LIL to each other by fine
6/0 Prolene sutures, thus converting it to a bileaflet valve (Figure 3).
The other small orifice was left intact to avoid any possible mitral
stenosis. Saline test showed excellent result with trivial residual MR.
There was complete absence of the atrial septum without any remnants. A
new atrial septum was constructed by an autologous fresh pericardial
patch. The remainder of the operation progressed uneventfully and
without any conduction disturbances. Postoperative TTE showed no
residual shunt across the new atrial septum, and trivial MR. The
postoperative period was uneventful, and the arterial blood gas showed
normal oxygenation. The patient was discharged in stable condition, and
has been on regular follow-up for last 6 months without any complains.