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Year : 2012  |  Volume : 9  |  Issue : 1  |  Page : 33-35

Hypoplastic left heart syndrome: A case report and review of the literature

1 Department of Pediatrics, Ahmadu Bello University Teaching Hospital (ABUTH), Zaria, Nigeria
2 Department of Medicine, Ahmadu Bello University Teaching Hospital (ABUTH), Zaria, Nigeria

Date of Web Publication10-Oct-2012

Correspondence Address:
Mairo Adamu Bugaje
Department of Pediatrics, ABUTH, Zaria
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0331-8540.102113

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This is a case report of a 7-week old boy who presented with clinical features suggestive of transposition of the great arteries with a shunt, but later confirmed to have hypoplastic left heart syndrome (HLHS) on echocardiography. The use of echocardiogram in making an accurate diagnosis of congenital heart defects is discussed. Some important aspects of presentation, management strategies, and current literature on hypoplastic left heart syndrome are highlighted.

Keywords: Congenital heart defect, echocardiography, hypoplastic left heart syndrome

How to cite this article:
Bugaje MA, Danbauchi SS. Hypoplastic left heart syndrome: A case report and review of the literature. Niger J Basic Clin Sci 2012;9:33-5

How to cite this URL:
Bugaje MA, Danbauchi SS. Hypoplastic left heart syndrome: A case report and review of the literature. Niger J Basic Clin Sci [serial online] 2012 [cited 2022 Dec 3];9:33-5. Available from: https://www.njbcs.net/text.asp?2012/9/1/33/102113

  Introduction Top

Hypoplastic left heart syndrome (HLHS) is a rare fatal congenital heart defect characterized by variable underdevelopment of the left ventricle that is unable to sustain systemic circulation, thus resulting in death within few weeks after birth. [1],[2] HLHS has a worldwide distribution with no geographical or ethnic predilection but has slight male preponderance. Although it has an incidence of 2 per 10,000 live births in the UK, it is responsible for 25-40% of neonatal cardiac deaths. [1]

The structural defect is variable but generally involves all or most components of the left side of the heart i.e. the left atrium, mitral valve, and aorta are under developed or absent. More complex lesions of HLHS co-existing with total pulmonary venous drainage and transposition of the great arteries occur in 7.5% of cases. [1],[2]

The left ventricle is unable to support systemic circulation; therefore, the right ventricle takes over this function via a shunt through the ductus arteriosus, resulting in ductus-dependent systemic circulation. The pulmonary venous return is via patent foramen ovale, which results in mixing of oxygenated with deoxygenated blood (systemic and pulmonary venous returns) leading to cyanosis. Closure of ductus arteriosus within days after birth leads to intractable heart failure due to inability to sustain systemic circulation.

Echocardiography is diagnostic of HLHS, while CXR and ECG are suggestive. The approach to management is multidisciplinary involving neonatal intensive care specialist, pediatric cardiac team, and transplant teams. Definitive treatment is surgical-staged Norwood operation and of recent cardiac transplant in those parts of the world where the expertise and necessary equipments are available [2],[3] with survival following surgery at 5 years and 10 years being 65% and 55%, respectively. [1] In resource-limited countries, this is still a mirage. The use of echocardiogram has made it possible to make an accurate diagnosis of specific heart lesions even in our setting. Major aspects of presentation and management of HLHS are highlighted.

  Case Report Top

A 7-weeks-old baby boy was referred to ABUTH on March 1 st 2004 from Federal Medical Centre Katsina with a diagnosis of ventricular septal defect. He had a non-paroxysmal cough associated with dark discoloration of the lips and tongue and inability to sustain sucking on the breast noticed at about 2 weeks of age. This was followed by generalized body swelling that was first noticed on the face. There was no history of fever or symptoms suggestive of upper respiratory tract infection and no symptoms referable to the genito-urinary system. Pregnancy and delivery were not adversely eventful, and there was no obvious exposure to irradiation. He cried immediately after birth and had a normal birth weight of 3.4 kg. He did not receive any vaccination. He was treated for recurrent pneumonia with congestive cardiac failure on three occasions with cefuroxime, frusemide, and digoxin in a private clinic with some relief of symptoms before being referred due to worsening of symptoms. The mother was a 34-year-old para 4+0 full time housewife while the husband was a 47-year-old civil servant.

Physical examination revealed a small wasted infant, weighing 3.0 kg, afebrile with an axillary temperature of 37°C, no abnormal facie, with central and peripheral cyanosis, no peripheral edema. He was not pale and not jaundiced. The chest wall was symmetrical with equal chest expansion; he was tachypnoeic with a respiratory rate of 70 breaths/min. He had vesicular breath sounds with fine basal crepitations. The apex beat was diffuse in the 5 th left intercostal space mid-axillary line. The heart rate was 150 beats/min and regular. The first and second heart sounds were heard, they were of normal intensity but with a pansystolic murmur grade 4/6 maximal at the left lower sternal edge. The abdomen revealed hepatomegaly of 5 cm, soft smooth non-tender, and the renal angles were free and there was no ascites. A diagnosis of congenital cyanotic heart disease most probably transposition of great arteries with a shunt was made.

The packed cell volume was 43%, white cell count of 3.8 × 19 9 /L with neutrophils of 30%, lymphocytes of 62%, monocyte of 6%, and eosinophils of 2% all within normal range. The random blood sugar, serum electrolytes, urea, and creatinine were within normal, except for a mildly elevated urea of 7.3 mmol/L. Chest X-ray [Figure 1] revealed gross cardiomegaly with plethora of lung fields.
Figure 1: Chest X-ray showing gross cardiomegaly

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An Echocardiogram showed a small left ventricle 0.78 cm, small left atrium 1.06 cm, small aortic root 1.04 cm, large pulmonary trunk 1.75 cm diameter, a large right atrium 3.0 cm transverse diameter, and a large right ventricle 3.4 cm transverse diameter, with tricuspid incompetence. An echocardiographic diagnosis of hypoplastic left heart syndrome was made.

He was nursed in a cardiac position and placed on maintenance digoxin 0.01 mg/kg after an initial loading dose parenterally, intravenous frusemide 1 mg/kg 12 hourly, oxygen intranasal and nasogastric tube feeding with expressed breast milk as he was too dyspneic to sustain sucking on breast. He remained cyanosed, and after an initial improvement within 6 days, he went into intractable heart failure and died at the age of 9 weeks after a hospital stay of 9 days.

  Discussion Top

HLHS is a serious congenital heart disease, in which the chambers, valves, and related blood vessels on the left side of the heart are malformed, leading to inefficient pumping action of the left side of the heart. [1],[2] The right side of the heart, therefore, takes over resulting in enlarged right ventricle and right-sided heart failure. The condition is fatal unless surgery is performed within a few days of life. The condition accounts for 1-2% of congenital heart defects in American children. In our environment, the incidence is not quite known. Previous reports on congenital heart defects in Nigerian and Ugandan children did not reveal any case of HLHS. [4],[5],[6],[7] This may not be surprising in view of the fact that the use of echocardiogram in making diagnosis was not in use then as it is now in much of Africa. Additionally, these children may die very early in the neonatal period prior to entertaining the diagnosis and the majority may not even have been in contact with health facility.

The infant may appear healthy at birth, but signs of HLHS soon become obvious. [2],[8] This was the finding in our patient as he had a normal birth weight of 3.4 kg and was symptom-free until the 2 nd week of life. Clinical features include poor feeding, weakness, dyspnea, cyanosis, enlargement of the heart, and heart murmur. Dysmorphic features may occur in up to 40% of cases and anomalies of the central nervous system in more than 60%. The diagnosis of HLHS could be made prenatally by fetal ultrasonography during routine antenatal care in developed parts of the world. However, in resource-limited settings such as ours, this is not the practice. Only a few centers in Northern Nigeria, as recent as 2004, had echocardiography machines and the experts to carry out the imaging and to interpret the results. In HLHS, echocardiogram reveals absence or hypoplasia of the mitral valve and aortic root, variable small left atrium and ventricle, large right atrium and ventricle. Other findings include cardiomegaly with increased pulmonary vascularity on chest X-ray and poor ventricular voltage with right ventricular hypertrophy on ECG.

Treatment for HLHS is limited in our setting. This was reflected in this case by lack of intensive care and ventilator support, delay in echocardiography as well as lack of adequate expertise (cardiothoracic surgeon) for prompt surgical intervention. Generally, patients die most often within the first month of life, usually in the first week or two, most being unable to sustain life beyond 6 weeks from birth. Rarely, unoperated cases may live for months or even years on conservative management. [9],[10] In this report, the baby survived for 9 weeks with conservative management of heart failure (diuretic, digoxin, oxygen). Intravenous prostaglandins administered to some patients helps to maintain patency of the ductus arteriousus. However, presently, in well-equipped centers, there is new hope for longer survival with open heart surgeries in the form of Norwood procedure. [1],[9] This procedure involves series of surgery in three stages, each done at different ages ranging from infancy through to toddler years, performed by highly specialized pediatric heart surgeons.

It is important to stress the fact that the prompt use of echocardiogram in the diagnosis of congenial heart defects is vital to allow for quick referral to appropriate centers that are capable of managing such cases.

  References Top

1.Barron DJ, Kilby MD, Davies B, Wright JG, Jones TJ, Brawn WJ. Hypoplastic left heart syndrome. Lancet 2009;374:551-64.  Back to cited text no. 1
2.Fruitman DS. Hypoplastic left heart syndrome: Prognosis and management options. Paediatr Child Health 2000:5:219-25.  Back to cited text no. 2
3.Williams RV, Ravishankar C, Zak V, Evans F, Atz AM, Border WL, et al. Birth weight and prematurity in infants with single ventricle physiology: Paediatric heart network infant single ventricle trial screened population. Congenital Heart Dis 2010;5:96-103.  Back to cited text no. 3
4.Adebongo SA. The status of cardiovascular surgery in West Africa. J Natl Med Assoc 1987;79:1077-87.  Back to cited text no. 4
5.Jaiyesimi F, Antia AU. Congenital heart disease in Nigeria: A ten-year experience at UCH, Ibadan. Ann Trop Paediatr 1981;1:77-85.  Back to cited text no. 5
6.Wammanda RD, Danbauchi SS. An echocardiography analysis of Paediatric cardiac diseases. Trop Cardiol 2002;28:29-31.  Back to cited text no. 6
7.Sani MU, Mariya Mukhtar-Yola, Karaye KM. Spectrum of congenital heart disease in a Tropical environment: An echocardiography study. J Natl Med Assoc 2007;99:665-9.   Back to cited text no. 7
8.Bernstein D. Hypoplastic left heart syndrome. In: Behrman, Kliegman, Jenson editors. Nelson textbook of Paediatrics. 17 th ed. Saunders; Philadelphia: 2007. p. 1541-3.  Back to cited text no. 8
9.Rao PS, Turner DR, Forbes TJ. Hypoplastic left heart syndrome. Available from: http://emedicine.medscape.com/article/890196-print. accessed 9/13/2010. [Last accessed on 2010].  Back to cited text no. 9
10.Mark R. Mercurio, Steven M. Peterec and bevin weeks. Hypoplastic left heart syndrome, extreme prematurity, comfort care only. Available from: http://,pediatrics.org/cgi/content/full/122/1/186 [Last accessed on 2010 Oct 13].  Back to cited text no. 10


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