By Dr. (Med) Gordon Offei-Larbi (BSc. MB ChB, MGCPS, FWACS)
Recently, a nurse narrated to me how a couple in her neighbourhood expressed concern over how lazy their 8-year-old son was. This boy was tagged lazy largely because he refused to carry out routine domestic tasks and play with his peers.
After a careful assessment by this nurse, she suspected this child might have a hole-in-heart condition. She subsequently advised the parents to visit the hospital for evaluation.
During the history taking stage of our assessment, the parents informed me that the child’s symptoms started when he was a year and half old, and had gotten worse with age.
This child would usually get episodes of difficulties in breathing, would position himself in a squatting position with minimal activity, and had a darkening of the lips and digits. (This ‘darkening’ symptom, in the case of babies, neonates, and Caucasians would manifest as a ‘blue’ colouring).
He experienced frequent fainting spells on exertion and was even labelled epileptic at a point, due to these frequent fainting spells. According to the parents, each time the child collapsed, they would merely try to revive him by washing his face with water.
Physical examination revealed the child suffering from clubbing—an enlargement of the distal phalanx; he had dark/blue lips, and his conjunctiva (the thin membrane that lines the eyelids and covers the white part of the eyeball) was plethoric (unusually red)—which was suggestive of high haemoglobin levels.
The child’s oxygen saturation was very low, standing at 65% on room air, and a murmur (an abnormal heart sound) was heard in the left upper sternal edge of his chest. His haemoglobin levels were very high (22 g/dL), and his hematocrit (blood test measurement that indicates the percentage of the volume of blood that is made up of red blood cells) was 66%.
Low oxygen levels drive the rapid production of red blood cells in children with this condition.
His chest X-ray showed a ‘typical boot shaped’ heart, echocardiogram (heart scan) revealed features consistent with a condition known as Tetralogy of Fallot (pronounced “tet-ral-oh-gee of fal-oh”). This is a complex hole-in-heart condition with four (4) components:
- Variable degree of obstruction or narrowing of the outlet of the right ventricle (lower chamber of the right side of the heart) or small pulmonary arteries;
- Hypertrophy of the right ventricle – An increase in size of the right ventricular muscles);
- A large ventricular septal defect – A hole between the pumping chambers of the heart; and
- An overriding of the aorta – Where the aorta is positioned directly over the ventricular septal defect, allowing oxygen-poor blood to flow into the aorta.
Tetralogy of Fallot (TOF) falls under a broad category of heart diseases called cyanotic congenital heart diseases. And in Ghana, TOF is the commonest of these cyanotic congenital heart diseases.
Children with this condition are chronically deprived of oxygen due to the structural defects in their heart, and they intuitively learn to adapt by squatting or by assuming a knee-chest position (as seen in Figure 3), whenever there is increased demand for oxygen.
The squatting or knee-chest position increases blood flow to the lungs through a complex mechanism, for these children who, as part of their condition, tend to experience very low oxygen saturations, depending on the degree of narrowing of the outlet of their right ventricles.
Our team had extensive discussions with the parents of this child, regarding the natural history of this condition and the need for surgery—as soon as possible. This is because there was a high risk of sudden death if left untreated. Without medical (surgical) intervention, 25% of children die by age 1; 40% by age 2; 70% by age 10; 90% by age 20; and 95% by age 40, according to one study.
The child was also at risk of several serious complications such as right heart failure (arrhythmias)—a disturbances in the rhythm of the heartbeat, brain abscess (stroke), cyanotic nephropathy (kidney failure/destruction), etc.
Luckily, a philanthropist sponsored this child’s surgery. The boy underwent a successful surgical repair. A few months after surgery, this so-called ‘Lazy Boy’ is now very active. And his parents, neighbours, and schoolmates are overjoyed by this sudden change in his activity and general health.
Several children with heart diseases are often tagged ‘lazy’, because they get tired with ordinary activity. This ‘lazy’ tag tends to persist, until parents take that crucial initiative of seeking help from the hospital—as was the case for this 8-year-old boy.
Recommendations
Parents, teachers, and other caregivers should carefully watch children during sporting events or when playing at home for any show of fatigue not commensurate with the levels of activity; or those children who refuse to participate in such activities altogether—often under the tag of being “sicklers”, and must report to the nearest health facility for evaluation.
Early detection of congenital heart diseases is very key—right from pregnancy antenatal scans (a nationwide newborn screening program).
Pre-school medical examinations should be made mandatory so that conditions like Tetralogy of Fallot (TOF) and such many other medical conditions can be detected early.
The cardiothoracic centres in Ghana are up to the task when it comes to the management of TOF and many other complex conditions of the heart. However, there should be increased funding and capacity building so that newborn screening programs for congenital heart diseases are brought to the doorsteps of the average Ghanaian.
BYLINE
Dr (Med) Gordon Offei-Larbi (BSc. MB ChB, MGCPS, FWACS)
He is a cardiothoracic surgeon and acting Head of Cardiothoracic Surgery at the University of Ghana Medical Centre (UGMC). He can be reached via [email protected]
Credit: National Cardiothoracic Centre, Korle-Bu Teaching Hospital, University of Ghana Medical Centre (UGMC), Boston Children Hospital, USA.
