A Rare Presentation of Right Lung Hypoplasia Associated with

OLGU SUNUMU • CASE REPORT
Koşuyolu Kalp Dergisi 2012;15(2):80-83
A Rare Presentation of
Right Lung Hypoplasia
Associated with Dextrocardia
and Visceral Malposition
Sağ Akciğer Hipoplazisi, Dekstrokardi ve
Viseral Malpozisyonu Olan
Nadir Bir Olgu Sunumu
Ayşe Yıldırım1, Zülal Uslu2, Aysu Türkmen Karaağaç3, Füsun Güzelmeriç4, Ayşe Baysal4
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Department of Pediatric Cardiology, Kosuyolu Heart Center, Kartal, Istanbul, Turkey
Kartal Koşuyolu Yüksek İhtisas Eğitim ve Araştırma Hastanesi, Pediatrik Kardiyoloji Bölümü,
İstanbul, Türkiye
Department of Radiology, Kosuyolu Heart Center, Kartal, Istanbul, Turkey
Kartal Koşuyolu Yüksek İhtisas Eğitim ve Araştırma Hastanesi, Radyoloji Bölümü, İstanbul, Türkiye
Department of Pediatry, Kosuyolu Heart Center, Kartal, Istanbul, Turkey
Kartal Koşuyolu Yüksek İhtisas Eğitim ve Araştırma Hastanesi, Pediatri Bölümü, İstanbul, Türkiye
Department of Anesthesia and Reanimation, Kosuyolu Heart Center, Kartal, Istanbul, Turkey
Kartal Koşuyolu Yüksek İhtisas Eğitim ve Araştırma Hastanesi, Anestezi ve Reanimasyon Bölümü,
İstanbul, Türkiye
ABSTRACT
Lung hypoplasia is often associated with pulmonary venous return abnormalities, referred to as
the Scimitar syndrome, in pediatric patients. A two day-old male patient presented to our clinic
with respiratory distress and mild cyanosis. Diagnostic studies revealed dextrocardia, right sided
hypoplasia of upper and middle lung lobes and enlargement of the left lung due to the compensation, midline liver, right sided stomach and right sided spleen. No pulmonary venous return abnormalities were detected. This is the first report of lung hypoplasia associated with heterotaxy,
visceral malposition and normal pulmonary venous return.
Key Words: Abnormalities; infant, newborn; disease.
Received: 29.04.2011 l Accepted: 09.06.2011
Yazışma Adresi/
Correspondence
Dr. Ayşe Yıldırım
Kartal Koşuyolu Yüksek İhtisas Eğitim
ve Araştırma Hastanesi,
Pediatrik Kardiyoloji Bölümü,
Denizer Caddesi, Cevizli Kavşağı
No: 2 34846 Cevizli, Kartal,
İstanbul-Türkiye
e-posta
[email protected]
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ÖZET
Pediatrik hastalarda akciğer hipoplazisine genellikle pulmoner venöz dönüş anomalisi eşlik eder ve
bu olgular Scimitar sendromu olarak bilinir. Kliniğimize iki günlük erkek bir bebek solunum sıkıntısı
ve hafif siyanozla getirildi. Bu hastada dekstrokardi, sağ akciğer üst ve orta loblarda hipoplazi, sol
akciğer genişlemesi, sağ yerleşimli mide ve dalak tespit edildi. Diğer akciğer hipoplazili olgulardan
farklı olarak bu hastada pulmoner venöz dönüş anomalisi yoktu. Bu olgu, akciğer hipoplazisi, heterotaksi, viseral malpozisyon ve normal venöz dönüşü olması nedeniyle sunulmuştur.
Anahtar Kelimeler: Anormallikler; bebek, yenidoğan; hastalık.
Geliş Tarihi: 29.04.2011 l Kabul Tarihi: 09.06.2011
Kosuyolu Kalp Derg 2012;15(2):80-83 l doi: 10.5578/kkd.3432
Yıldırım A, Uslu Z, Türkmen Karaağaç A, Güzelmeriç F, Baysal A.
IntroductIon
Situs anomalies are rare, complex and confusing. Situs
inversus refers to an anatomic arrangement that is mirror
image of situs solitus. Situs ambigious or heterotaxy refers to malposition of the thoraco-abdominal organs and
vessels including indeterminate atrial arrangement and,
complex congenital heart diseases(1). The two major subcategories of heterotaxy are heterotaxy with polysplenia
and heterotaxy with asplenia. Heterotaxy with asplenia
has often been described as bilateral right-sidedness (right
atrial isomerism), bilateral trilobed lungs and bilateral epiarterial bronchi. Heterotaxy with polysplenia is bilateral left
sidedness (left atrial isomerism), two lobe lungs and hypoarterial bronchi(2,3). With respect to the congenital heart diseases, lung hypoplasia is frequently associated with the
pulmonary venous return anomaly referred to as the Scimitar syndrome. This syndrome is described as the partial
anomalous pulmonary venous drainage of right lung into
the inferior vena cava (IVC), partial systemic arterial blood
supply, and hypoplasia of the affected lung, with bronchial
abnormalities and abnormal lobation(4).
This case report includes a newborn with dextrocardia,
patent ductus arteriosus, pulmoner atresia, atrial septal
defect, ventricular septal defect, transposition of great arteries and visceral malposition. In contrast to the previous
reports of asplenia and bilateral trilobed lungs in right lateralization, this patient had a right-sided spleen, hypoplastic
right lung and a two-lobed left lung. This is a unigue presentation due to the absence of pulmonary venous return
abnormalities associating with the visceral malposition and
the complex cardiac pathologies.
care unit. In his chest X-ray, he had dextrocardia and a
large shadow of the thymus. The oxygen saturation was
80-85%. The diagnosis of heterotaxy syndrome and right
atrial isomerism was initially based on a suspicion, after
viewing juxtaposed aorta and IVC on the same side on
the patient’s echocardiography. Other cardiac pathologies detected through the echocardiography included
dextrocardia, ventricular septal defect, atrial septal defect, pulmonary atresia, patent ductus arteriosus and
transposition of great arteries. Subsequent thoracic and
abdominal computerized tomography evaluations of the
patient revealed hypoplasia of upper and middle lung lobes in addition to dextrocardia, a midline liver, right-sided
spleen, right-sided stomach and enlargement of the left
lung due to compensation and normal pulmonary venous
return and juxtaposed aorta and IVC (Figures 1-5). The
shape and the junction of atrial appendages on computerized tomography images were found bilaterally wide and
triangular in shape.
During the 15 days of evaluation period, the patient
remained hemodynamically stable. He had no failure to
thrive. He was fed by his mother’s milk and gained weight
after his discharge from the hospital.
DISCUSSION
Patients with situs ambiguous or heterotaxy syndrome
usually present with complex cardiovascular anomalies.
In right lateralization or the asplenia syndrome, commonly
observed cardiac malformations include common atriventricular canal, univentricular heart, transposition of great arteries, anomalous pulmonary venous return(2). In this case
CASE REPORT
A two day-old male patient presented to our clinic with
respiratory distress. After 38 weeks of normal gestation,
a 28 year-old woman had a normal delivery. There was
no history of consanguinity or genetic disorders in the family. In the physical examination, his weight was 2700 g,
height was 47 cm, he had no major cranial or facial anomaly, he had difficulty in breathing and mild cyanosis with
a respiratory rate of 45 breaths per minute and no breath
sounds on the right upper and middle lung fields, his heart rate was 125 beats per minute with a continuous murmur under the right clavicula, his liver was 2 cm palpable below the sternum in the midline, his spleen was not
palpable and the remaining systems were normal. The
cardiac rhythm, oxygen saturation and the blood pressure
of the patient was monitorised regularly in the intensive
Koşuyolu Kalp Dergisi 2012;15(2):80-83
Figure 1. Black arrow shows hypoplastic right lung, white
arrow shows normal lung field (R: Right, L: Left).
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A Rare Presentation of Right Lung Hypoplasia Associated with Dextrocardia and Visceral Malposition
Sağ Akciğer Hipoplazisi, Dekstrokardi ve Viseral Malpozisyonu Olan Nadir Bir Olgu Sunumu
Figure 4. Juxtaposition of vena cava inferior (V) and aorta
(A) (R: Right, L: Left).
Figure 2. Dextrocardia (Dex), patent ductus arteriosus (PDA)
and pulmonary arteries (PA) in computerized tomography
angiography (L: Left, R: Right).
Figure 5. Midline liver, right stomach (S) and spleen (Sp),
vena cava inferior (V) (R: Right, L: Left).
on of the heart leading to the hypoplasia of the lung might
have taken place just after the normal embryological development of the pulmonary veins.
Figure 3. White arrows show four pulmonary veins joining to
the left atrium.
report, right lateralization was accompanied by dextrocardia and the other complex cardiac pathologies. Although
there is right upper and middle lobe hypoplasia, pulmonary
venous return was normal. We assume that the malpositi-
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The diagnostic approach to situs abnormalities is based on the investigation of the morphology of the atrial
appendage, the venoatrial connection and other visceral disturbances(1,5). Traditionally, echocardiography and
angiography provide detailed information on congenital
heart diseases, but in the case of heterotaxy syndrome,
these modalities have limitations in imaging cardiac, thoracic, and visceral anomalies completely. Computerized
tomography has the advantages while visualising the thoracoabdominal organs and vessels(6). In our case we first
Koşuyolu Kalp Dergisi 2012;15(2):80-83
Yıldırım A, Uslu Z, Türkmen Karaağaç A, Güzelmeriç F, Baysal A.
diagnosed dextrocardia in routine echocardiography and
then suspected of heterotaxia syndrome and evaluated the
thoracoabdominal organs by computerized tomography
angiography to reach the definit diagnosis.
Heterotaxy is a class of birth defects in which left and
right paterning (L-R) occurs at an early stage of the developing embryo, before organ formation. Unpaired organs of
the chest and abdomen begin to develop in the midline and
then move to their final asymmetric positions. The etiology
of this asymmetric development has not been completely
understood. Hereditary transition, incomplete penetrance,
single gene mutation, and environmental factors were accused for this asymmetric development(1).
In this case report, we believe that a defect in the L-R
pattern occurred at an early stage of embryonic development resulting with the heterotaxic presentation. The location of the heart far away from the midline towards the
end of the right side of the chest is considered to be the
reason of the development of right sided lung hypoplasia, especially at the upper and middle lobes. Therefore,
we suggest that all patients who present with dextrocardia should undergo a detailed computerized tomography
angiographic study for the evaluation of thoracoabdominal organs and vessels. As different from other heterotaxia cases our patient presented with respiratory distress
in addition to dextrocardia. Therefore we suggest that the
differential diagnosis of respiratory distress should include
lung hypoplasia. In right sided lung hypoplasia, chest X-ray
Koşuyolu Kalp Dergisi 2012;15(2):80-83
may not be a useful diagnostic tool as dextrocardia and
the shadow of the thymus may form a misleading image.
If there is any suspicion, computerized tomography of the
chest would be a better choice to determine the presence
of lung hypoplasia.
We believe that it is crucial to realise the situs abnormalities and their radiological appearances in order to recognize the children with increased risk of congenital heart
disease, respiratory distress due to lung hypoplasia and
immune deficiency due to asplenia or volvulus with malrotation.
REFERENCES
1. Belmont JW, Mohapatra B, Towbin JA, Ware SM. Molecular genetics of heterotaxy syndromes. Curr Opin Cardiol 2004;19:216-20.
2. Applegate KE, Goske MJ, Pierce G, Murphy D. Situs revisited:
imaging of the heterotaxy syndrome. Radiographics 1999;19:83752.
3. Durán MA, Guereña A. Sequence of right laterality with spleen: widening the spectrum of heterotaxy. Pediatr Pathol Mol Med 2002;
21:461-5.
4. Neill CA, Ferencz C, Sabiston DC, Sheldon H. The familial occurrence of hypoplastic right lung with systemic arterial supply and
venous drainage “scimitar syndrome. Bull Johns Hopkins Hosp
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5. Van Praagh S. Cardiac malpositions and the heterotaxy syndrome. In: Nadas AS, Fyler DC (eds). Nadas’ Pediatr Cardiol. 2nd ed.
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6. Chen SJ, Li YW, Wang JK, Chiu IS, Su CT, Hsu JC, et al. Three-dimensional reconstruction of abnormal ventriculoarterial relationship by electron beam CT. J Comput Assist Tomogr 1998;22:560-8.
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