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Journal of Clinical Medicine Research

Case Report

Volume 1, Number 4, October 2009, pages 240-243

Doppler Echocardiographic Diagnosis of a Rare Pentalogy of Fallot Having Penta-Cardiac Anomalies: A Case Report

Tetralogy of Fallot [1], also known as Fallot's syndrome or Fallots tetrad, has four key features. A ventricular septal defect (a hole between the ventricles) and many levels of obstruction from the right ventricle to the lungs (pulmonary stenosis) are the most important. Also, the aorta (major artery from the heart to the body) lies directly over the ventricular septal defect, and the right ventricle develops thickened muscle. Because the aorta overrides the ventricular defect and there's pulmonary stenosis, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body. Sometimes the pulmonary valve is completely obstructed (pulmonary atresia). Infants and young children with unrepaired tetralogy of Fallot are often blue (cyanotic) as in the present case. The reason is that some oxygen-poor blood is pumped to the body.

A 2.5 kg infant was born at 38 weeks gestation after lower abdominal caesarian section (L.A.C.S.) of 25 years old woman having breech presentation in our hospital. The female child showed peripheral cyanosis as evident from the Figure 1.

Click for large image

Figure 1. Showing peripheral cyanosis over a palm.

The association of tetralogy of Fallot with anomalous pulmonary venous drainage is rare and only limited number of cases have been reported till now [2,3]. It is estimated that 8% of cardiac malformations are due to genetic factors, 2% to environmental agents, and the vast majority to a complex interplay between genetic and environmental influences [4]. Classic examples of environmental cardiovascular teratogens include rubella virus. In the present case, the mother giving birth to the newborn was having infection of rubella virus as well.

Mostly, the defect is due to antero-cephalad deviation of the outlet septum resulting in: (i) an unrestricted large anterior malalignment subaortic VSD; (ii) right ventricular outflow tract obstruction which may be infundibular valvular, supravalvular or a combination of all; (iii) consequent right ventricular hypertrophy; and (iv) an overriding aorta (< 50%). Accompanying features can include additional muscular VSDs, anomalous coronary arteries, a right-sided aortic arch, PDA, aortic root dilation, and aortopulmonary collaterals (mainly seen in patients with pulmonary atresia / VSD). Use of prenatal magnetic resonance imaging (MRI) may enhance the visualization of the fetal anomalies [5]. After birth, echocardiography is essential for diagnosis of associated cardiac anomalies.

Nevertheless, small defects of the diaphragm and pericardium can be extremely difficult to diagnose accurately. In these patients and in cases of possible surgical intervention, MRI might be useful [6,7]. MRI provides good delineation of the aorta, right ventricular outflow tract, VSDs, right ventricular hypertrophy, and the pulmonary artery and its branches. MRI can be used to measure intracardiac pressures, gradients, and blood flows. The treatment of the pentalogy of Fallot consists ofcorrective cardiovascular surgery. However, in the present case the mother and her attendants were advised to go for the cardiovascular surgery, but before they could decide, the child expired.

In conclusion, careful preoperative assessment is required in those with totally anomalous connections. Whenever, the diagnosis of pentalogy of Fallot is suspected, a multidisciplinary approach is essential. A prenatal medical team consisting of a gynecologist, a neonatologist, a pediatric cardiologist, a geneticist, and a pediatric surgeon should use their expertise in choosing the best approach to this severe disorder.

Competing Interests

The authors declare no conflict of interest.

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Journal of Clinical Medicine Research is published by Elmer Press Inc.