Case of the Week - Patient Summary 14104Peer Reviewed and Certified -
GENERAL: This is a thin male. On the growth chart, he has gone from 25th percentile at birth to 5th percentile presently. He is alert and vigorous.
HEART: Regular. There is a prolonged systolic murmur with, perhaps, a diastolic component that is harsh and 3/6. It does radiate to both posterior lung fields.
LUNGS: Clear. I do not appreciate crackles, wheezes or rhonchi. He does have mildly increased work of breathing with frequent intercostal retractions. There is no nasal flaring.
ABDOMEN: Bowel sounds are present.Abdomen is soft, nontender, nondistended. The liver was palpable just below the costal margin and firm to percussion.
EXTREMITIES: Mildly cool but he is undressed.
DIAGNOSTIC DATA: An echo shows balanced, complete AV canal defect. Electrolytes show sodium 136, potassium 5.9, chloride 97, bicarb 31, BUN 17, creatinine 0.5, glucose 100, calcium 10.3, albumin 3.8. Total bilirubin was elevated at 5.7. Transaminases were normal.
Image 2: Lateral CXR confirming cardiomegaly.
Image 3: Lateral CXR showing the MV ring within the heart.
Image 4: AP CXR showing the MV ring within the heart/
2) ASD – Septum Secundum defect
3) VSD
4) Complete AV septal defect
5) Mitral Regurgitation
6) Valvar Pulmonary Stenosis
AV Canal Mitral Valve Regurgitation 1) Medical
- Furosemide
- Digitalis
- Captopril
2) Surgical
- Catheter placement
- Surgical Palliation
- Reconstitution of Mitral Valve
Follow-up:
Follow up is done 1-2 weeks after surgery. An ECG is done at the time to check for arrhythmias. A Chest Xray is done to rule out any pericardial manifestations. Finally, an ECHO is also done to assess the functionality of the repaired heart. Any patient must be put on antibiotics recommended for life in order to prevent subacute endocarditis, which is the most frequent complication of this disease.
The AV canal or endocardial cushion is an area of the heart that develops during the first two months of development. This occurs when the superior and inferior portions of the endocardial cushion fuse with the septum primum, which is the primitive atrial septation. In a partial AV canal defect, commonly associated with Down’s syndrome, the mitral valve formation is abnormally inferior leading to poor position of the two leaflets that comprise the mitral valve. This abnormal leaflet position results in a widened cleft and inadequate coaptation. Due to the AV canal defect and inferior mitral leaflet positioning, this creates an abnormal communication between the left ventricle and right atrium similar to an ASD. The improper mitral leaflet positioning also applies to the tricuspid valve and its leaflets as well. Thus, in the severe form of the AV canal mitral valve regurgitation, there is also an associated ASD and tricuspid regurgitation. This anomaly presents within the first 2 years of life and has a mortality rate of up to 30%.
Clinical Presentation:
A child would present with cyanosis, tachypnea, dyspnea, failure to thrive, and eventual volume overloading leading to congestive heart failure. Upon auscultation, one would hear a fixed S2 split. Additionally, there is the pansystolic murmur best heard at the apex radiating to the axilla generally associated with the mitral regurgitation. Also there could be an S3 gallop due to the flow from the right atrium into the left ventricle during early diastole.
These children present with cyanosis, tachypnea, dyspnea, failure to thrive, and eventual volume overloading leading to congestive heart failure. Upon auscultation, one would hear a fixed S2 split. Additionally, there is the pansystolic murmur best heard at the apex radiating to the axilla generally associated with the mitral regurgitation. Also there could be an S3 gallop due to the flow from the right atrium into the left ventricle during early diastole.
