Case report http://dx.doi.org/10.3345/kjp.2012.55.1.24 Korean J Pediatr 2012;55(1):24-28 Partial anomalous pulmonary venous connection with intact atrial septum in a child with ventricular septal defect: a case report Young Nam Kim, MD, Hwa Jin Cho, MD, Young Partial anomalous pulmonary vein connection (PAPVC) is a rare con- Kuk Cho, MD, Jae Sook Ma, MD genital abnormal cardiac defect involving the pulmonary veins draining into the right atrium (RA) directly or indirectly by venous connection. Department of Pediatrics, Chonnam National University Ninety percent of PAPVCs are accompanied by atrial septal defect Hospital, Chonnam National University Medical School, (ASD). To our knowledge, there is no previous report of PAPVC with Gwangju, Korea ventricular septal defect (VSD) without ASD in Korea, and in this paper, we report the first such case. A 2-day-old girl was admitted into the Chonnam National University Hospital for evaluation of a cardiac murmur. An echocardiogram revealed perimembranous VSD without ASD. She underwent patch closure of the VSD at 5 months of age. Although the VSD was completely closed, she had persistent cardiomegaly with right ventricular volume overload, as revealed by echocardiography. Three years later, cardiac catheterization and chest computed tomography revealed a PAPVC, with the right upper pul- Received: 23 May 2011, Revised: 22 June 2011 monary vein draining into the right SVC. Therefore, correction of the Accepted: 8 August 2011 Corresponding author: Young Kuk Cho, MD PAPVC was surgically performed at 3 years of age. We conclude that it Department of Pediatrics, Chonnam National University is important to suspect PAPVC in patients with right ventricular volume Hospital, Chonnam National University Medical School, 8 overload, but without ASD. Hak-dong, Dong-gu, Gwangju 501-757, Korea Tel: +82-62-220-6646, Fax: +82-62-222-6103 E-mail: [email protected] Key words: Partial anomalous pulmonary venous connection, Ventricular Copyright © 2012 by The Korean Pediatric Society heart septal defect, Atrial heart septal defect This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by- nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. Introduction atrial septal defect (ASD)2), the echocardiologist should try to find the PAPVC whenever ASD is detected. On the other hand, PAPVC with Partial anomalous pulmonary venous connection (PAPVC) is ventricular septal defect (VSD) is rarely reported3), therefore, when a rare congenital abnormal cardiac defect in which the pulmonary the VSD is initially detected, the echocardiogram may fail to find the veins drain into the right atrium (RA) directly, or indirectly by PAPVC. We report the first case of a baby who had VSD accompanied venous connection1). Drainage of the right pulmonary vein into by PAPVC, with intact atrial septum in Korea. the RA or the superior vena cava (SVC) is the most common type of PAPVC. Since ninety percent of PAPVC are accompanied with 24 Korean J Pediatr 2012;55(1):24-28 • http://dx.doi.org/10.3345/kjp.2012.55.1.24 25 Case report and persistent left superior vena cava draining into the RA via the coronary sinus, without bridging the left innominate vein. A 2 day-old girl was examined at the Chonnam National University At 5 months old, she was admitted for the symptoms of cough, Hospital for the evaluation of a cardiac murmur. She was born by cold sweating, and tachypnea. On admission day, blood pressure Caesarean section at the local hospital, weighted 3.4 kg at birth, was 110/70 mmHg, body temperature was 36℃, pulse rate was and was suspected to have VSD on antenatal ultrasonography. On 120 beats per minute and respiration rate was 50 per minute. The physical examination, there were no significant findings apart from a chest X-ray showed cardiomegaly with pulmonary congestion. grade 1 systolic murmur on the left lower sternal boarder. Transthoracic Electrocardiography revealed RA enlargement, and left ventricular echocardiography revealed perimembranous VSD (Fig. 1A-C), hypertrophy. Follow-up echocardiography showed large perimem- A B Fig. 1. (A) The transthoracic echocardiographic parasternal short axis view shows a perimem­ branous VSD (arrow). (B) The color­Doppler 4 chamber view shows a VSD (arrow) with left to right shunt flow. (C) The color­Doppler subcostal view shows an intact atrial septum. VSD, ventricular septal defect; RA, right atrium; RV, C right ventricle; LA, left atrium; LV, left ventricle. Fig. 2. (A) The post­surgery 2­dimensional echocardiographic parasternal short axis view shows a closed VSD. (B) The 2­dimensional 4 chamber view shows both RA and RV enlarge­ ment. (C) The M­mode echocardiographic short axis, mid­ventricular view shows a paradoxical septal movement, i.e., an upward deviation of the ventricular septal wall (arrow) during the systolic phase, due to volume overload of the RV. VSD, ventricular septal defect; RA, right atrium; RV, right ventricle; LA, left atrium; LV, left ventricle. 26 YN Kim, et al. • PAPVC without ASD in VSD A B Fig. 3. (A) Angiography of the RUPV shows a partial anomalous pulmonary venous connection, consisting of the RUPV, which drains into the RA through the SVC. (B) Chest computer tomo­ graphy shows the RUPV (arrow), which drains into the SVC. RUPV, right upper pulmonary vein; RA, right atrium; SVC, superior vena cava; Ao. Aorta; PA, pulmonary artery. branous VSD, pulmonary hypertension, and moderate tricuspid regurgitation (TR). However, we could not find either ASD or patent foramen ovale. She had conservative treatment for the symptoms of congestive heart failure, including diuretics and inotropics for 2 weeks, and then she underwent a surgical patch closure of the perimem branous VSD. After the operation, despite of complete closure of the VSD (Fig. 2A), she had suffered from recurrent cough, fever, and pneumonia for 3 years. The chest X-ray showed cardiomegaly and increased pulmonary vascular markings. In addition, the electrocardiogram showed right ventricular hypertrophy, right atrial enlargement, and right axis deviation. The follow-up echocardiography showed both right atrial (RA) and right ventricular (RV) enlargement and right ventricular volume overload (Fig. 2B, C). Then, we performed cardiac Fig. 4. After partial anomalous pulmonary venous connection correction, catheterization and chest computed tomography at 3 years and the 2­dimensional echocardiographic 4 chamber view shows the impro­ vement of both RA and RV enlargement. RA, right atrium; RV, right ven­ 2-months of age. It revealed the right upper pulmonary vein draining tricle; LA, left atrium; LV, left ventricle. into the right SVC, without any evidence of ASD (Fig. 3A, B). At 3 years and 3 months of age, she underwent the modified Warden also rarely reported. The diagnosis can be missed easily, in up to 25 technique for correction of the PAPVC consisting of the right pul- % of patients, the accurate determination of either the number or monary vein connected to the left pulmonary vein. After PAPVC sites of anomalous connecting pulmonary veins is problematic or correction, the echocardiography showed disappearance of the right impossible5). Therefore, further knowledge of the variation patterns of ventricular volume overload (Fig. 4). The follow-up chest X-ray showed the pulmonary venous drainage is necessary in order to diagnose PAPVC. improvement of the pulmonary congestion. Since then, she has PAPVC is discovered by 0.4 to 0.7% of cases in autopsy series2,6), visited our outpatient department regularly, and her growth and but this incidence seemed an overestimate because many of these cases development is according to her age. were asymptomatic. Thus the true incidence of symptomatic patients is expected to be lower. Moreover, at least one anomalous pulmonary Discussion venous connection is present in about three-quarters of the patients diagnosed with asplenia syndrome7). Drainage of the right pulmonary In the normal heart, there are four pulmonary veins connected vein into either the RA or the SVC is a frequent type2). Similarly, in to the left atrium which are the upper left, upper right, lower left the case presented here, the right upper pulmonary vein drained into and lower right pulmonary veins4). Thus, in patients diagnosed the right SVC. Up to 90% of the PAPVC cases are accompanied by with PAPVC, the blood flow from the pulmonary veins returns to ASD2). PAPVC from the right pulmonary veins occurs ten times more the RA instead of the left atrium. The majority of PAPVC has one frequently than the connection initiated from the left pulmonary anomalous pulmonary vein and more than one anomalous vein are veins8). Additionally, PAPVC from left pulmonary vein with intact Korean J Pediatr 2012;55(1):24-28 • http://dx.doi.org/10.3345/kjp.2012.55.1.24 27 atrial septum is extremely rare8). Kim et al.3) also reported that PAPVC was accompanied by VSD, ASD, Children with PAPVC usually remain asymptomatic and are and by coarctation of the aorta. Oh et al.17) reported an isolated case of referred to specialist based on an incidentally noted cardiac murmur5). PAPVC, without either ASD or VSD. To the best of our knowledge, Symptoms may also occur in older patients and may be secondary the case presented here, i.e., of a PAPVC with VSD but without ASD, to right-sided volume overload or pulmonary vascular obstructive is the first case in Korea. When the VSD was initially detected, the disease. The appearance of the clinical symptoms from PAPVC PAPVC diagnosis was missed. depends on how many pulmonary veins abnormally return to the In conclusion, we believe that the PAPVC diagnosis should be RA, and whether the right to left shunt occurs or not9,10). Cardiac considered every time a patient presents with right ventricular volume arrhythmia detected on a routine clinic visit, an occasionally detected overload without ASD. cardiac murmur as well as a widely split second heart sound, can be the first signs of PAPVC5). Some patients complain of tachypnea, References subcostal retraction6), repeated pulmonary infections and failure to thrive11,12) or limitation of physical exercise12). On physical examination, 1. Elami A, Rein AJ, Preminger TJ, Milgalter E. Tetralogy of Fallot, absent marked stridor can be auscultated11). Additionally, in serious cases, pulmonary valve, partial anomalous pulmonary venous return and coarc- tation of the aorta. Int J Cardiol 1995;52:203-6. fully developed pulmonary edema, hypoxemia, cyanosis and growth 2. Broy C, Bennett S. Partial anomalous pulmonary venous return. Mil Med failure may appear7). Our case had recurrent pulmonary infection, i.e., 2008;173:523-4. pneumonia, due to the right heart volume overload condition. 3. Kim S, Lee YS, Woo JS, Cho KJ. Surgical management of coarctation of Imaging examinations to diagnose PAPVC include chest radio graphy, the aorta with a ventricular septal defect and coexisting partial anomalous pulmonary venous connection: a case report. Korean J Thorac Cardiovasc echocardiography, cardiac magnetic resonance imaging (MRI), Surg 2006;39:479-81. cardiac computed tomography, and/or cardiac catheterization. Chest 4. Respondek-Liberska M, Janiak K, Moll J, Ostrowska K, Czichos E. Prenatal radiographic findings are, as follows: cardiomegaly with prominent diagnosis of partial anomalous pulmonary venous connection by detection RA and right ventricle, dilated pulmonary vessels and pulmonary of dilatation of superior vena cava in hypoplastic left heart. A case report. infiltrated shadow6,12). Echocardiography with color flow mapping Fetal Diagn Ther 2002;17:298-301. 5. Lilje C, Weiss F, Weil J. Detection of partial anomalous pulmonary reveals pulmonary veins connected either to the RA or the SVC, right venous connection by magnetic resonance imaging. Pediatr Cardiol 2005; heart volume overload, turbulent flow in the SVC, and sometimes 26:490-1. TR5,12). Structural MRI is rapidly becoming the procedure of choice 6. Iwasa T, Mitani Y, Sawada H, Takabayashi S, Shimpo H, Matsubayashi for further investigation of the PAPVC5,13). N, et al. Persistent lung shadow in an infant with ventricular septal defect and partial anomalous pulmonary venous connection associated with Even in when echocardiography findings suggest the presence of pulmonary venous obstruction. Pediatr Int 2008;50:397-9. PAPVC, not all the pulmonary veins may be identified. Therefore 7. Coulson JD, Bullaboy CA. Concentric placement of stents to relieve an cardiac catheterization may be necessary for both the precise anatomic obstructed anomalous pulmonary venous connection. Cathet Cardiovasc diagnosis and the hemodynamic evaluations. In the clinical case Diagn 1997;42:201-4. presented here, we confirmed the PAPVC by cardiac catheterization. 8. Takamori S, Hayashi A, Nagamatsu Y, Tayama K, Kakegawa T. Left partial anomalous pulmonary venous connection found during a lobectomy for The medical treatment of PAPVC is not a routine choice for asymp- lung cancer: report of a case. Surg Today 1995;25:982-3. tomatic patients. Patients with heart failure can be managed with 9. Bernstein D. Partial anomalous pulmonary venous return. In: Kliegman diuretics, cardiac glycosides, afterload reduction, and beta blockers. RM, Behrman RE, Jenson HB, Stanton BF, editors. Nelson textbook of Arrhythmias should be appropriately treated8). Percutaneous trans- pediatrics. 18th ed. Philadelphia: Saunders, 2007;1886. catheter occlusion of the anomalous pulmonary venous connection 10. Valsangiacomo ER, Hornberger LK, Barrea C, Smallhorn JF, Yoo SJ. Partial using coil was also reported14). The definitive treatment for PAPVC is and total anomalous pulmonary venous connection in the fetus: two- dimensional and Doppler echocardiographic findings. Ultrasound Obstet the surgical repair12, 14). The optimal time for intervention is the preschool Gynecol 2003;22:257-63. age12). The operative technique depends on the number and the site of 11. 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