OTHER
The Clinical Respiratory Journal
Clinical diagnostic approach to congenital agenesis of right lung with dextrocardia: a case report with review of literature Lijian Xie, Jian Zhao and Jie Shen Department of Cardiology, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai, China
Abstract Background and Aim: Congenital lung agenesis is extremely rare. The aim of this article is to evaluate the clinical diagnostic approach to congenital lung agenesis with a case report. Methods: We described a 44-day-old male child with right pulmonary agenesis presented to us with severe respiratory distress. He was misdiagnosed as a case of foreign body bronchus at emergency room according chest X-ray. Right lung agenesis was confirmed by CT scan. Echocardiography showed dextrocardia, absence of right pulmonary artery and small atrial septal defect. Then we reviewed the related literature with Medline and Pubmed databases. Conclusion: It is recommended that CT scan is the key diagnostic approach for lung agenesis and invasive diagnostic procedures and prophylactic surgery should not be done in asymptomatic cases.
Key words computed tomography (CT) – foreign body bronchus – lung agenesis
Please cite this paper as: Xie L, Zhao J and Shen J. Clinical diagnostic approach to congenital agenesis of right lung with dextrocardia: a case report with review of literature. Clin Respir J 2015; ••: ••–••. DOI:10.1111/crj.12282.
DOI:10.1111/crj.12282
Correspondence Jie Shen, MD, Department of Cardiology, Shanghai Children’s Hospital, Shanghai Jiao Tong University, West Beijing Road 1400-24, 200040 Shanghai, China. Tel: 86-13918874909 Fax: +862152976067 email: [email protected] Received: 29 May 2014 Revision requested: 14 January 2015 Accepted: 12 February 2015
Authorship and contributorship LJ Xie, J Zhao, J Shen performed research and collected data; LJ Xie wrote the paper. Ethics The study was approved by the institutional ethical board of Shanghai Children’s Hospital. All patients provided written informed consent. Conflict of interest The authors have stated explicitly that there are no conflicts of interest in connection with this article.
Introduction Lung agenesis was first observed in 1673 by Pozze in a female cadaver autopsy. It is defined as complete absence of lung tissues, bronchi and pulmonary vessels; it may be unilateral or bilateral, partial or complete (1). Lung agenesis is often associated with acute respiratory distress and has a high mortality rate (2). It is associated with a number of other congenital anomalies of skeletal, cardiovascular, genitourinary and gastrointestinal systems (3). This condition is generally diagnosed in childhood. However, patients without any organ anomalies or patients with a mild form of this disease can reach adulthood (4). It occurs approximately in 1 out of 100 000 births and estimated in 1/10 000 to 1/15 000 autopsies (5). We describe a
The Clinical Respiratory Journal (2015) • ISSN 1752-6981 © 2015 John Wiley & Sons Ltd
patient of right lung agenesis with dextrocardia and small atrial septal defect (ASD) who presented with respiratory distress due to aspiration and misdiagnosed as a case of foreign body bronchus at the emergency room.
Case report A 44-day-old male child, G6P3, birth weight 3.4 kg, apgar score 9-9 (1st, 5th min), now weighing 4 kg, presented with sudden respiratory distress and peripheral cyanosis when mother gave breast feeding about 2 h previously. On auscultation of the chest, no breath sounds could be heard over the right hemithorax; instead, normal heart sounds were heard on the right side. Chest X-ray showed homogenously opaque right
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Figure 1. (A) Chest X-ray showed homogenously opaque right hemithorax with mediastinal shift and hyperlucency of left lung field. In fact, right hemithorax was occupied by vascular and cardiac chambers. (2) Thorax threedimensional computed tomography construction showed absence of the right main bronchus and right lung parenchyma.
hemithorax with mediastinal shift and hyperlucency of left lung field (Fig. 1). Then, he was misdiagnosed as a case of foreign body bronchus by the pediatrician at emergency room and was admitted. Bronchoscope revealed that the baby’s middle bronchus was stenosis, and it was suspicious that right side trachea was absent. Computed tomography (CT) of the chest and threedimensional (3D) CT bronchogram showed absence of the right main bronchus, right branch of the pulmonary artery, right lung parenchyma, and shift of the heart into the right thoracic cavity (Figs. 1 and 2). Echocardiography showed dextrocardia, absence of right pulmonary artery and small atrial septal defect. Then, we reviewed chest X-ray and we found that the right hemithorax was occupied by vascular and cardiac chambers. There was no abnormal finding on examination of other systems. The baby was treated by intervention to remove distress, and then he was discharged in improved condition. With the follow up, the baby developed well, except several episodes of cough and fever in the last year, which was managed successfully without hospitalization.
Discussion Lung agenesis is classified into three groups: type 1 (agenesis): complete absence of the lung parenchyma, its vasculature and the bronchus; type 2 (aplasia): rudimentary bronchus with complete absence of pulmonary parenchyma; and type 3 (hypoplasia): presence of variable amounts of pulmonary parenchyma, bronchus and vasculature (1). In our patient, there was absence of the right lung, bronchus and the right pulmonary artery. Mortality associated with right lung agenesis is higher than with left lung agenesis due to compression of the tracheobronchial tree by the shift of midthoracic structures into the right chest (6). The clinical presentation of the lung agenesis varies among patients, such as respiratory distress syndrome at birth. Some patients remain asymptomatic until adulthood. Patients with unilateral lung agenesis can have recurrent respiratory infections, as well as cardiovascular, digestive and musculoskeletal malformations (7). Lung agenesis is thought to result from the
Figure 2. (A) Echocardiography showed that right pulmonary artery was absent in the short axis view. (B) Thorax three-dimensional computed tomography construction showed absence of the right pulmonary artery and deviated heart and main vessels into right thoracic cavity (MPA, main pulmonary artery; LPA, left pulmonary artery; AO, aorta).
2
The Clinical Respiratory Journal (2015) • ISSN 1752-6981 © 2015 John Wiley & Sons Ltd
Xie et al.
negative effects that occur on the fourth week of fetal life. In normal development, the heart shifts to the left in the fourth week of fetal life, and simultaneously, the trachea develops as a ventral diverticulum arising from the foregut (8). If this balance is not established, one side will develop normally, whereas the other will fail completely (agenesis/aplasia) or undergo only limited development (9). Although its etiology is not fully understood, vitamin A or folic acid deficiency or the use of salicylates may be responsible for it (10). Many of the patients with unilateral lung agenesis die after birth or in early childhood due to bronchopulmonary complications or associated systemic malformations. Left lung agenesis is often manifested without other congenital defects, whereas right lung agenesis is frequently associated with congenital malformation in the cardiac (14%), gastrointestinal (14%), skeletal (12%), vascular (9%) and genitourinary (9%) systems (3). Unlike other cases reported in literature, this case was not associated with any major congenital abnormality except for a small ASD. Imaging studies are essential for the diagnosis of lung agenesis. Chest X-ray and chest CT show hyperinflation of the remaining lung and displacement of the mediastinum toward the affected side (11). Echocardiography plays a fundamental role in ruling out cardiac anomalies. Other ancillary tests, such as bronchoscopy for confirming the diagnosis and magnetic resonance imaging for detecting vascular malformations, might be indicated (7, 12, 13). CT scan is the key diagnostic approach to confirm lung agenesis. The characteristic CT findings reveal opaque hemithorax with mediastinal shift toward the affected side and bony cage symmetry. 3D CT construction also clearly delineates lung parenchyma with pulmonary and bronchial tree. The early intervention to remove the distress is the key to save the patient. So, it is concluded that congenital lung agenesis without any other major congenital abnormality is an extremely rare anomaly and may be asymptomatic throughout life. Patients with persistent or recurrent symptoms like chronic unproductive cough or signs of respiratory insufficiency, such as tachypnea, dyspnea, harsh breath sounds and cyanosis are indicated for surgery (14). However, few cases have been reported in literature that were treated successfully by the technique of aortopexy and diaphragmatic translocation (2, 8). The infant with lung agenesis was easily misdiagnosed in community hospital or emergency room. Kumar et al. also reported a 3-month-old female child with right lung agenesis who was misdiagnosed as
The Clinical Respiratory Journal (2015) • ISSN 1752-6981 © 2015 John Wiley & Sons Ltd
Lung agenesis
foreign body bronchus at the peripheral health center (15). Nandan et al. reported a 4-month-old infant with right lung agenesis who was misdiagnosed as unresolving pneumonia (16). In our case, the child was asymptomatic up to 1.5 month old then presented with sudden appearance of severe respiratory distress due to aspiration. The patient was also misdiagnosed as foreign body bronchus in emergency room according to chest X-ray. Thus, in cases of repeated lung infection or suddenly respiratory distress with opacification of right hemithorax, right lung agenesis must be kept in mind. Furthermore, in reviewing the literature, we could find only six cases of right lung agenesis with dextrocardia.
References 1. Schneider P, Schwabble E. Die morphologic der missbildungen des menschen und der thiere, Vol. 3. Jena, G Fischer, 1912: 812–22. 2. Krivchenya DU, Dubrovin AG, Krivchenya TD, Khursin VN, Lysak CV. Aplasia of the right lung in a 4-year-old child: surgical stabilization of the mediastinum by diaphragm translocation leading to complete recovery from respiratory distress syndrome. J Pediatr Surg. 2000;35: 1499–502. 3. Maltz DL, Nadas AS. Agenesis of the lung: presentation of eight new cases and review of the literature. Pediatrics. 1968;42: 175–88. 4. Richard S. Pulmonary Abnormalities of Developmental Origin. Synopsis of Diseases of the Chest, 2nd edn. Philadelphia, W. B. Saunders Company, 1994: p. 25686. 5. Conway K, Gibson RL, Perkins J, Cunningham ML. Pulmonary agenesis: expansion of the VCFS phenotype. Am J Med Genet. 2002;113: 89–92. 6. Shrestha P, Poudel P, Shah PL. Unilateral pulmonary aplasia: a case report. J Nepal Paediatr Soc. 2010;30: 116–8. 7. Borja MB, del Río Camacho G, Orozco AL, Gil de San Vicente LP. A first event of dyspnea in an infant. Chest. 2000;118(4): 1202–4. 8. Dohlemann C, Mantel K, Schneider K, Guntner M, Kreuzer E, Hacker WC. Deviated trachea in hypoplasia and aplasia of the right lung: airway obstruction and its release by aortopexy. J Pediatr Surg. 1990;25: 290–3. 9. Skandalakis JE, Gray SW, Symbas P. The trachea and the lungs. In: Skandalakis JE, Gray SW, editors. Embryology for Surgeons, 2nd edn. Baltimore, MD, Williams and Wilkins, 1994: 429–32. 10. Roque AS, Burton EM, Boedy RF, Falls G, Bhatia JS. Unilateral pulmonary agenesis without mediastinal displacement. South Med J. 1997;90: 335–7.
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11. Sharma S, Kumar S, Yaduvanshi D, Chauhan D. Isolated unilateral pulmonary agenesis. Indian Pediatr. 2005;42(2): 170–2. 12. Chou AK, Huang SC, Chen SJ, et al. Unilateral lung agenesis – detrimental roles of surrounding vessels. Pediatr Pulmonol. 2007;42(3): 242–8. 13. Alvarez AJ, Vaccaro MI, Verdejo HP, Villarroel CQ, Puentes RR. Unilateral pulmonary agenesis associated with multiple malformations – a case report [article in Spanish]. Rev Chil Pediatr. 2000;71(1): 41–5.
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14. Krivchenya DU, Rudenko EO, Lysak SV, Dubrovin AG, Khursin VN, Krivchenya TD. Lung aplasia: anatomy, history, diagnosis and surgical management. Eur J Pediatr Surg. 2007;17: 244–50. 15. Kumar B, Kandpal DK, Sharma C, Sinha DD. Right lung agenesis. Afr J Paediatr Surg. 2008;5(2): 102–4. 16. Nandan D, Bhatt GC, Dewan V, Pongener I. Complete right lung agenesis with dextrocardia: an unusual cause of respiratory distress. J Clin Imaging Sci. 2012;2: 81.
The Clinical Respiratory Journal (2015) • ISSN 1752-6981 © 2015 John Wiley & Sons Ltd
The Clinical Respiratory Journal
Clinical diagnostic approach to congenital agenesis of right lung with dextrocardia: a case report with review of literature Lijian Xie, Jian Zhao and Jie Shen Department of Cardiology, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai, China
Abstract Background and Aim: Congenital lung agenesis is extremely rare. The aim of this article is to evaluate the clinical diagnostic approach to congenital lung agenesis with a case report. Methods: We described a 44-day-old male child with right pulmonary agenesis presented to us with severe respiratory distress. He was misdiagnosed as a case of foreign body bronchus at emergency room according chest X-ray. Right lung agenesis was confirmed by CT scan. Echocardiography showed dextrocardia, absence of right pulmonary artery and small atrial septal defect. Then we reviewed the related literature with Medline and Pubmed databases. Conclusion: It is recommended that CT scan is the key diagnostic approach for lung agenesis and invasive diagnostic procedures and prophylactic surgery should not be done in asymptomatic cases.
Key words computed tomography (CT) – foreign body bronchus – lung agenesis
Please cite this paper as: Xie L, Zhao J and Shen J. Clinical diagnostic approach to congenital agenesis of right lung with dextrocardia: a case report with review of literature. Clin Respir J 2015; ••: ••–••. DOI:10.1111/crj.12282.
DOI:10.1111/crj.12282
Correspondence Jie Shen, MD, Department of Cardiology, Shanghai Children’s Hospital, Shanghai Jiao Tong University, West Beijing Road 1400-24, 200040 Shanghai, China. Tel: 86-13918874909 Fax: +862152976067 email: [email protected] Received: 29 May 2014 Revision requested: 14 January 2015 Accepted: 12 February 2015
Authorship and contributorship LJ Xie, J Zhao, J Shen performed research and collected data; LJ Xie wrote the paper. Ethics The study was approved by the institutional ethical board of Shanghai Children’s Hospital. All patients provided written informed consent. Conflict of interest The authors have stated explicitly that there are no conflicts of interest in connection with this article.
Introduction Lung agenesis was first observed in 1673 by Pozze in a female cadaver autopsy. It is defined as complete absence of lung tissues, bronchi and pulmonary vessels; it may be unilateral or bilateral, partial or complete (1). Lung agenesis is often associated with acute respiratory distress and has a high mortality rate (2). It is associated with a number of other congenital anomalies of skeletal, cardiovascular, genitourinary and gastrointestinal systems (3). This condition is generally diagnosed in childhood. However, patients without any organ anomalies or patients with a mild form of this disease can reach adulthood (4). It occurs approximately in 1 out of 100 000 births and estimated in 1/10 000 to 1/15 000 autopsies (5). We describe a
The Clinical Respiratory Journal (2015) • ISSN 1752-6981 © 2015 John Wiley & Sons Ltd
patient of right lung agenesis with dextrocardia and small atrial septal defect (ASD) who presented with respiratory distress due to aspiration and misdiagnosed as a case of foreign body bronchus at the emergency room.
Case report A 44-day-old male child, G6P3, birth weight 3.4 kg, apgar score 9-9 (1st, 5th min), now weighing 4 kg, presented with sudden respiratory distress and peripheral cyanosis when mother gave breast feeding about 2 h previously. On auscultation of the chest, no breath sounds could be heard over the right hemithorax; instead, normal heart sounds were heard on the right side. Chest X-ray showed homogenously opaque right
1
Lung agenesis
Xie et al.
Figure 1. (A) Chest X-ray showed homogenously opaque right hemithorax with mediastinal shift and hyperlucency of left lung field. In fact, right hemithorax was occupied by vascular and cardiac chambers. (2) Thorax threedimensional computed tomography construction showed absence of the right main bronchus and right lung parenchyma.
hemithorax with mediastinal shift and hyperlucency of left lung field (Fig. 1). Then, he was misdiagnosed as a case of foreign body bronchus by the pediatrician at emergency room and was admitted. Bronchoscope revealed that the baby’s middle bronchus was stenosis, and it was suspicious that right side trachea was absent. Computed tomography (CT) of the chest and threedimensional (3D) CT bronchogram showed absence of the right main bronchus, right branch of the pulmonary artery, right lung parenchyma, and shift of the heart into the right thoracic cavity (Figs. 1 and 2). Echocardiography showed dextrocardia, absence of right pulmonary artery and small atrial septal defect. Then, we reviewed chest X-ray and we found that the right hemithorax was occupied by vascular and cardiac chambers. There was no abnormal finding on examination of other systems. The baby was treated by intervention to remove distress, and then he was discharged in improved condition. With the follow up, the baby developed well, except several episodes of cough and fever in the last year, which was managed successfully without hospitalization.
Discussion Lung agenesis is classified into three groups: type 1 (agenesis): complete absence of the lung parenchyma, its vasculature and the bronchus; type 2 (aplasia): rudimentary bronchus with complete absence of pulmonary parenchyma; and type 3 (hypoplasia): presence of variable amounts of pulmonary parenchyma, bronchus and vasculature (1). In our patient, there was absence of the right lung, bronchus and the right pulmonary artery. Mortality associated with right lung agenesis is higher than with left lung agenesis due to compression of the tracheobronchial tree by the shift of midthoracic structures into the right chest (6). The clinical presentation of the lung agenesis varies among patients, such as respiratory distress syndrome at birth. Some patients remain asymptomatic until adulthood. Patients with unilateral lung agenesis can have recurrent respiratory infections, as well as cardiovascular, digestive and musculoskeletal malformations (7). Lung agenesis is thought to result from the
Figure 2. (A) Echocardiography showed that right pulmonary artery was absent in the short axis view. (B) Thorax three-dimensional computed tomography construction showed absence of the right pulmonary artery and deviated heart and main vessels into right thoracic cavity (MPA, main pulmonary artery; LPA, left pulmonary artery; AO, aorta).
2
The Clinical Respiratory Journal (2015) • ISSN 1752-6981 © 2015 John Wiley & Sons Ltd
Xie et al.
negative effects that occur on the fourth week of fetal life. In normal development, the heart shifts to the left in the fourth week of fetal life, and simultaneously, the trachea develops as a ventral diverticulum arising from the foregut (8). If this balance is not established, one side will develop normally, whereas the other will fail completely (agenesis/aplasia) or undergo only limited development (9). Although its etiology is not fully understood, vitamin A or folic acid deficiency or the use of salicylates may be responsible for it (10). Many of the patients with unilateral lung agenesis die after birth or in early childhood due to bronchopulmonary complications or associated systemic malformations. Left lung agenesis is often manifested without other congenital defects, whereas right lung agenesis is frequently associated with congenital malformation in the cardiac (14%), gastrointestinal (14%), skeletal (12%), vascular (9%) and genitourinary (9%) systems (3). Unlike other cases reported in literature, this case was not associated with any major congenital abnormality except for a small ASD. Imaging studies are essential for the diagnosis of lung agenesis. Chest X-ray and chest CT show hyperinflation of the remaining lung and displacement of the mediastinum toward the affected side (11). Echocardiography plays a fundamental role in ruling out cardiac anomalies. Other ancillary tests, such as bronchoscopy for confirming the diagnosis and magnetic resonance imaging for detecting vascular malformations, might be indicated (7, 12, 13). CT scan is the key diagnostic approach to confirm lung agenesis. The characteristic CT findings reveal opaque hemithorax with mediastinal shift toward the affected side and bony cage symmetry. 3D CT construction also clearly delineates lung parenchyma with pulmonary and bronchial tree. The early intervention to remove the distress is the key to save the patient. So, it is concluded that congenital lung agenesis without any other major congenital abnormality is an extremely rare anomaly and may be asymptomatic throughout life. Patients with persistent or recurrent symptoms like chronic unproductive cough or signs of respiratory insufficiency, such as tachypnea, dyspnea, harsh breath sounds and cyanosis are indicated for surgery (14). However, few cases have been reported in literature that were treated successfully by the technique of aortopexy and diaphragmatic translocation (2, 8). The infant with lung agenesis was easily misdiagnosed in community hospital or emergency room. Kumar et al. also reported a 3-month-old female child with right lung agenesis who was misdiagnosed as
The Clinical Respiratory Journal (2015) • ISSN 1752-6981 © 2015 John Wiley & Sons Ltd
Lung agenesis
foreign body bronchus at the peripheral health center (15). Nandan et al. reported a 4-month-old infant with right lung agenesis who was misdiagnosed as unresolving pneumonia (16). In our case, the child was asymptomatic up to 1.5 month old then presented with sudden appearance of severe respiratory distress due to aspiration. The patient was also misdiagnosed as foreign body bronchus in emergency room according to chest X-ray. Thus, in cases of repeated lung infection or suddenly respiratory distress with opacification of right hemithorax, right lung agenesis must be kept in mind. Furthermore, in reviewing the literature, we could find only six cases of right lung agenesis with dextrocardia.
References 1. Schneider P, Schwabble E. Die morphologic der missbildungen des menschen und der thiere, Vol. 3. Jena, G Fischer, 1912: 812–22. 2. Krivchenya DU, Dubrovin AG, Krivchenya TD, Khursin VN, Lysak CV. Aplasia of the right lung in a 4-year-old child: surgical stabilization of the mediastinum by diaphragm translocation leading to complete recovery from respiratory distress syndrome. J Pediatr Surg. 2000;35: 1499–502. 3. Maltz DL, Nadas AS. Agenesis of the lung: presentation of eight new cases and review of the literature. Pediatrics. 1968;42: 175–88. 4. Richard S. Pulmonary Abnormalities of Developmental Origin. Synopsis of Diseases of the Chest, 2nd edn. Philadelphia, W. B. Saunders Company, 1994: p. 25686. 5. Conway K, Gibson RL, Perkins J, Cunningham ML. Pulmonary agenesis: expansion of the VCFS phenotype. Am J Med Genet. 2002;113: 89–92. 6. Shrestha P, Poudel P, Shah PL. Unilateral pulmonary aplasia: a case report. J Nepal Paediatr Soc. 2010;30: 116–8. 7. Borja MB, del Río Camacho G, Orozco AL, Gil de San Vicente LP. A first event of dyspnea in an infant. Chest. 2000;118(4): 1202–4. 8. Dohlemann C, Mantel K, Schneider K, Guntner M, Kreuzer E, Hacker WC. Deviated trachea in hypoplasia and aplasia of the right lung: airway obstruction and its release by aortopexy. J Pediatr Surg. 1990;25: 290–3. 9. Skandalakis JE, Gray SW, Symbas P. The trachea and the lungs. In: Skandalakis JE, Gray SW, editors. Embryology for Surgeons, 2nd edn. Baltimore, MD, Williams and Wilkins, 1994: 429–32. 10. Roque AS, Burton EM, Boedy RF, Falls G, Bhatia JS. Unilateral pulmonary agenesis without mediastinal displacement. South Med J. 1997;90: 335–7.
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11. Sharma S, Kumar S, Yaduvanshi D, Chauhan D. Isolated unilateral pulmonary agenesis. Indian Pediatr. 2005;42(2): 170–2. 12. Chou AK, Huang SC, Chen SJ, et al. Unilateral lung agenesis – detrimental roles of surrounding vessels. Pediatr Pulmonol. 2007;42(3): 242–8. 13. Alvarez AJ, Vaccaro MI, Verdejo HP, Villarroel CQ, Puentes RR. Unilateral pulmonary agenesis associated with multiple malformations – a case report [article in Spanish]. Rev Chil Pediatr. 2000;71(1): 41–5.
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14. Krivchenya DU, Rudenko EO, Lysak SV, Dubrovin AG, Khursin VN, Krivchenya TD. Lung aplasia: anatomy, history, diagnosis and surgical management. Eur J Pediatr Surg. 2007;17: 244–50. 15. Kumar B, Kandpal DK, Sharma C, Sinha DD. Right lung agenesis. Afr J Paediatr Surg. 2008;5(2): 102–4. 16. Nandan D, Bhatt GC, Dewan V, Pongener I. Complete right lung agenesis with dextrocardia: an unusual cause of respiratory distress. J Clin Imaging Sci. 2012;2: 81.
The Clinical Respiratory Journal (2015) • ISSN 1752-6981 © 2015 John Wiley & Sons Ltd
