World Journal for Pediatric and Congenital Heart Surgery http://pch.sagepub.com/
A Rare Congenital Cardiac Anomaly in Adulthood: Tetralogy of Fallot With Absent Pulmonary Valve Syndrome Murat Saygi, Sertac Haydin, Alper Guzeltas, Ender Odemis and Mehmet Yeniterzi World Journal for Pediatric and Congenital Heart Surgery 2014 5: 330 DOI: 10.1177/2150135113513477 The online version of this article can be found at: http://pch.sagepub.com/content/5/2/330
Published by: http://www.sagepublications.com
On behalf of:
World Society for Pediatric and Congential Heart Surgery
Additional services and information for World Journal for Pediatric and Congenital Heart Surgery can be found at: Email Alerts: http://pch.sagepub.com/cgi/alerts Subscriptions: http://pch.sagepub.com/subscriptions Reprints: http://www.sagepub.com/journalsReprints.nav Permissions: http://www.sagepub.com/journalsPermissions.nav
>> Version of Record - Mar 25, 2014 What is This?
Downloaded from pch.sagepub.com at National Dong Hwa University on March 30, 2014
Case Report
A Rare Congenital Cardiac Anomaly in Adulthood: Tetralogy of Fallot With Absent Pulmonary Valve Syndrome
World Journal for Pediatric and Congenital Heart Surgery 2014, Vol. 5(2) 330-333 ª The Author(s) 2014 Reprints and permission: sagepub.com/journalsPermissions.nav DOI: 10.1177/2150135113513477 pch.sagepub.com
Murat Saygi, MD1, Sertac Haydin, MD2, Alper Guzeltas, MD1, Ender Odemis, MD1, and Mehmet Yeniterzi, MD2
Abstract In approximately 3% to 6% of the patients with tetralogy of Fallot (TOF), the pulmonary valve leaflets are absent or only a rudimentary ridge of tissue is present. Some infants with the severe form of this syndrome die early during the newborn period due to severe respiratory distress, feeding intolerance, or cardiovascular compromise. Survival to adulthood of this combination is extremely unusual. In this article, we presented a case who was diagnosed in adult age with TOF having absent pulmonary valve syndrome. The patient with these findings underwent surgery, and complete repair was performed. Clinical symptoms resolved after surgery. Keywords absent pulmonary valve syndrome, tetralogy of Fallot, adulthood, congenital cardiac anomaly Submitted August 20, 2013; Accepted October 17, 2013.
Introduction In approximately 3% to 6% of the patients with tetralogy of Fallot (TOF), the pulmonary valve leaflets are absent or only a rudimentary ridge of tissue is present.1 The right ventricle (RV) is hypertrophied and may contain obstructing muscle bands in addition to infundibular narrowing. The pulmonary annulus is mildly to moderately hypoplastic with vestigial nubbins of nonfunctional myxomatous tissue rather than developed valve leaflets. The size of the main pulmonary artery (MPA) ranges from normal to aneurysmal depending on the severity of the anomaly, whereas the branch pulmonary arteries are markedly aneurysmal, often two to three times their normal diameters. It may clinically present with airway compression from dilated pulmonary arteries or congestive heart failure in early infantile period.2 Some infants with the severe form of this syndrome die early during the newborn period owing to severe respiratory distress, feeding intolerance, or cardiovascular compromise. Survival to adulthood of this combination is extremely unusual.3 In this article, we present a case with TOF-absent pulmonary valve syndrome (TOF-APVS) which was diagnosed in adult age and underwent a successful surgery.
Case Report A 31-year-old woman was evaluated for exertional dyspnea, fatigue, and cyanosis (New York Heart Association class III).
The heart rate was 80 beats/minute, and the blood pressure was 120/80 mm Hg. Auscultation revealed a single second heart sound, a grade 3/6 harsh systolic murmur, and a grade 3/6 early diastolic murmur, both were heard best at the left sternal edge. She had detectable cyanosis, and oxygen saturation was 70%. A chest radiograph demonstrated mild cardiomegaly, an enlarged left pulmonary artery (LPA), and right aortic arch (Figure 1). An electrocardiogram showed sinus tachycardia with signs of right atrial abnormality and right ventricular hypertrophy. Two-dimensional echocardiography showed dilatation of the MPA (33 mm, z score þ2.8), right pulmonary artery (RPA; 32 mm, z score þ5.3), and LPA (44 mm, z score þ7.9; Figure 2). There was no identifiable pulmonic valve tissue in the area of the right ventricular outflow tract (RVOT). Right ventricle was enlarged, and aortic arch was right sided. Left ventricular systolic function was normal. Color Doppler echocardiogram showed a bidirectional shunt across the ventricular septal defect. There was turbulent flow across the RVOT
1 Department of Pediatric Cardiology, Mehmet Akif Ersoy Cardiovascular Research and Training Hospital, Halkali, Istanbul, Turkey 2 Department of Pediatric Cardiovascular Surgery, Mehmet Akif Ersoy Cardiovascular Research and Training Hospital, Halkali, Istanbul, Turkey
Corresponding Author: Murat Saygi, Department of Pediatric Cardiology, Mehmet Akif Ersoy Research and Training Hospital, Bezirganbahce Street, Halkali, Istanbul, Turkey. Email: [email protected]
Downloaded from pch.sagepub.com at National Dong Hwa University on March 30, 2014
Saygi et al
331
Acronyms and Abbreviations APVS LPA MPA PA RPA RV RVOT TOF
absent pulmonary valve syndrome left pulmonary artery main pulmonary artery pulmonary artery right pulmonary artery right ventricle right ventricular outflow tract tetralogy of Fallot
Figure 2. Dilatation of main pulmonary artery, right pulmonary artery, and left pulmonary artery is seen on two-dimensional echocardiography. Ao indicates aorta; LPA, left pulmonary artery; MPA, main pulmonary artery; RPA, right pulmonary artery; RVOT, right ventricular outflow tract.
Figure 1. Chest radiography demonstrated mild cardiomegaly, an enlarged left pulmonary artery, and a right aortic arch.
with a pulmonary gradient of 90 mm Hg. There was a wide jet of pulmonic regurgitant flow essentially filling the RVOT (Figure 3). Cardiac catheterization also showed right ventricular dilatation, aneurysmal dilatation of the MPA, LPA, and RPA, and pulmonary regurgitation (Figure 4). Computerized tomographic angiography showed no coronary anomaly and no compression to coronary arteries and dilatation of the MPA, RPA, and LPA. The patient with these findings underwent surgery. Cardiopulmonary bypass was established with aortobicaval cannulation under 28 C. Cardiac arrest was done with antegrade cold blood-potassium cardioplegia. The aorta was divided for better exposure. Main, left, and right pulmonary arteries were dissected from hilus to hilus. A T-shaped piece of pulmonary artery (PA) was resected from anterior walls of the main, left, and right pulmonary arteries. The MPA portion of resection was carried out until the half length of the MPA. Then, a transannular incision was performed from MPA to RVOT. But, 1 cm MPA tissue was left intact between the pulmonary and transannular RVOT incisions to anchor the distal part of transannular patch (Figure 5). There was no native pulmonary valve tissue. Pulmonary artery incision was closed primarily. The ventricular septal defect was closed with bovine pericardial patch using continuous polypropylene suture through the RV. A 23-mm
Figure 3. Large regurgitation belonging to pulmonary insufficiency is seen on color Doppler echocardiography. Ao indicates aorta; LPA, left pulmonary artery; MPA, main pulmonary artery; PR, pulmonary regurgitation; RPA, right pulmonary artery.
Edwards SAPIEN Heart Valve (Edwards Lifesciences LLC, Irvine, CA, USA) was implanted. Interrupted sutures were used to secure the posterior portion of the bioprosthesis to the pulmonary annulus, and continuous sutures were used to secure
Downloaded from pch.sagepub.com at National Dong Hwa University on March 30, 2014
332
World Journal for Pediatric and Congenital Heart Surgery 5(2)
Figure 5. Operation image of our patient. *Intact MPA tissue between the pulmonary and the transannular RVOT incisions. LPA indicates left pulmonary artery; MPA, main pulmonary artery, RPA, right pulmonary artery; RVOT, right ventricular outflow tract. Figure 4. Dilatation of the main pulmonary artery, right pulmonary artery, and left pulmonary artery is seen angiographically. LPA indicates left pulmonary artery; MPA, main pulmonary artery; RPA, right pulmonary artery.
the anterior portion of the valve ring to the transannular bovine pericardial patch. Peroperative transesophageal echocardiography showed an open RVOT and no pulmonary insufficiency. Following the surgery, the patient’s clinical symptoms were resolved within a short period of time. She was put on warfarin treatment for 3 months and discharged on postoperative day 7.
Discussion The first description of TOF-APVS is attributed to Chevers in 1847, and the first detailed case report was published in 1927 by Kurtz et al who described the clinical features and postmortem findings of an 11-year-old boy. Despite an absence of pulmonary valve tissue, these patients usually exhibit some degree of RVOT obstruction.4 Although there are anatomic similarities to classic TOF, the pathophysiology and natural course of TOF-APVS are strikingly different. On examination, patients with TOF-APVS exhibit ‘‘to-and-fro’’ systolic and diastolic murmurs and a single second heart sound, whereas patients with isolated TOF rarely have a diastolic murmur.4 We heard a single second heart sound, a grade 3/6 harsh systolic murmur, and a grade 3/6 early diastolic murmur, both were the best at the left sternal edge. There is marked systolic expansion and diastolic collapse of the pulmonary regurgitation. The enlarged arteries can compress central and peripheral pulmonary bronchi, resulting in bronchial obstruction. Vascularity of the peripheral lung fields is either normal or reduced. In our case, there was an aneurysmal dilatation of the main, left, and
right pulmonary arteries. But there was not bronchial compression. In TOF-APVS, a dilated PA trunk can compress the coronary arteries. Sivakumar et al5 reported that they identified TOF-APVS and the absence of LPA in a 17-year-old patient who presented with chest pain and that the aneurysmal dilated PA was significantly compressing the left coronary artery proximally. Excision of the dilated PA during surgery is necessary in patients determined to have compression of the coronary artery during preoperative cardiac catheterization. In our case, the absence of a coronary compression was shown with cardiac catheterization and multislice computed tomography pulmonary angiography. Surgical repair for APVS remains one of the challenging and debated topics in pediatric cardiac surgery practice.6 Several surgical options have been suggested for management of TOF with absent pulmonary valve and, to date, no clear consensus exists as to which is the best.4 Surgical treatment includes modifications of several techniques, such as plication of aneurysmal pulmonary arteries, repositioning the PA anterior to the aorta to relieve airway obstruction, reconstruction of the RVOT using a transannular patch or valved conduit, and homograft replacement of aneurysmal pulmonary arteries.7 Some surgeons also suspend the LPA to the anterior chest wall on closing the chest, hoping to further release pressure on the bronchi. An alternative is to perform the Lecompte maneuver, that is, transect the ascending aorta during repair and move the RPA anterior to it, away from the tracheobronchial tree. The surgeon must also decide whether or not to implant a pulmonary valve at the time of the primary procedure, which usually requires placement of a valved RV-to-PA conduit. Our choice was to release and plicate the pulmonary arteries and to reconstruct the outflow tract using a transannular patch over a
Downloaded from pch.sagepub.com at National Dong Hwa University on March 30, 2014
Saygi et al
333
bioprosthetic valve. Because of the age of the patient, long durability of the bioprosthetic valve in pulmonary position and the possibility of transcatheter pulmonic valve insertion, probably there will not be a need of a second surgery. We especially used 23-mm valve which is of appropriate size for current transcatheter valve-in-valve insertions and for future transcatheter valve replacement. The clinical course and prognosis of patients with TOF and absent pulmonary valve are variable. Although there is probably a spectrum of disease, general consensus divides patients into two groups: those who exhibit severe respiratory problems in early in life and those who do not. Patients who present with severe respiratory compromise immediately after birth or in the first weeks of life will generally require urgent intervention and have a worse outcome than those who does not need early intervention with relatively minor respiratory involvement. Our patient had the typical findings of TOF-APVS, although these became apparent late in life. Survival of an adult with APVS is rarely reported in the literature. Hovis et al8 reported a 51-yearold case with TOF-APVS. Their case was the oldest one in the literature with TOF-APVS who have undergone a successful surgical repair. In another report, Sivakumar et al5 reported two other cases, aged 17 and 20 years, with TOF-APVS and without left pulmonary arteries. They reported that these two cases had a relatively asymptomatic childhood, which was attributed to pulmonary blood flow being regulated by a narrowed pulmonary annulus, sparing them from infantile heart failure. According to our knowledge, this report shows the fourth case in the literature who has reached adulthood without surgery. In conclusion, TOF-APVS is a relatively rare variant of TOF. There are only a few reported cases diagnosed with TOF-APVS in adult age in the literature as most of them are diagnosed at younger ages. Recognizing the typical symptoms and findings on physical examination and imaging studies requires a reasonable index of suspicion but will lead to the proper diagnosis and management of this syndrome in the adult patient. Some patients may present without bronchial compression symptoms, although they have aneurysmal dilatation of the pulmonary arteries. Surgical treatment is more complex when compared with classic TOF surgery, but it can be
successful and may cause significant improvement in the patient’s life. Declaration of Conflicting Interests The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Funding The author(s) received no financial support for the research, authorship, and/or publication of this article.
References 1. Nagao GI, Daoud GI, McAdams AJ, Schwartz DC, Kaplan S. Cardiovascular anomalies associated with tetralogy of Fallot. Am J Cardiol. 1967;20(2): 206-215. 2. Presbitero P, Pedretti E, Orzan F, et al. Absent pulmonary valve syndrome with associated anomalies of the pulmonary blood supply. Int J Cardiol. 1984;6(5): 587-598. 3. Lakier JB, Stanger P, Heymann MA, Hoffman JIE, Rudolph AM. Tetralogy of Fallot with absent pulmonary valve: natural history and hemodynamic considerations. Circulation. 1974;50(1): 167-175. 4. Allen DA, Driscoll DJ, Shaddy RE, Feltes TF. Moss and Adams’ Heart Disease in Infants, Children, and Adolescents: Including the Fetus and Young Adult. 8th ed. Philadelphia: Lippincott, Williams and Wilkins; 2013:975-976. 5. Sivakumar K, Pavithran S, Coelho R. Unusual clinical presentation of rare adult survivors with a missing pulmonary valve associated with a missing left pulmonary artery. Pediatr Cardiol. 2013 Dec; 34(8): 1899-1902. 6. Cho MJ, Park JA, Lee HD. A variant of tetralogy of Fallot with absent pulmonary valve: left pulmonary artery originate from left patent ductus arteriosus. Pediatr Cardiol. 2010;31(1): 153-154. 7. Abbag F. Unilateral absence of a pulmonary artery in absent pulmonary valve syndrome: a case report and review of the literature. Ann Thorac Cardiovasc Surg. 2006;12(5): 368-372. 8. Hovis SM, Rose JD, Sorrell VL. A rare congenital condition discovered (happily) late in life. tetralogy of Fallot with absent pulmonary valve. N C Med J. 2001;62(2): 82-85.
Downloaded from pch.sagepub.com at National Dong Hwa University on March 30, 2014
A Rare Congenital Cardiac Anomaly in Adulthood: Tetralogy of Fallot With Absent Pulmonary Valve Syndrome Murat Saygi, Sertac Haydin, Alper Guzeltas, Ender Odemis and Mehmet Yeniterzi World Journal for Pediatric and Congenital Heart Surgery 2014 5: 330 DOI: 10.1177/2150135113513477 The online version of this article can be found at: http://pch.sagepub.com/content/5/2/330
Published by: http://www.sagepublications.com
On behalf of:
World Society for Pediatric and Congential Heart Surgery
Additional services and information for World Journal for Pediatric and Congenital Heart Surgery can be found at: Email Alerts: http://pch.sagepub.com/cgi/alerts Subscriptions: http://pch.sagepub.com/subscriptions Reprints: http://www.sagepub.com/journalsReprints.nav Permissions: http://www.sagepub.com/journalsPermissions.nav
>> Version of Record - Mar 25, 2014 What is This?
Downloaded from pch.sagepub.com at National Dong Hwa University on March 30, 2014
Case Report
A Rare Congenital Cardiac Anomaly in Adulthood: Tetralogy of Fallot With Absent Pulmonary Valve Syndrome
World Journal for Pediatric and Congenital Heart Surgery 2014, Vol. 5(2) 330-333 ª The Author(s) 2014 Reprints and permission: sagepub.com/journalsPermissions.nav DOI: 10.1177/2150135113513477 pch.sagepub.com
Murat Saygi, MD1, Sertac Haydin, MD2, Alper Guzeltas, MD1, Ender Odemis, MD1, and Mehmet Yeniterzi, MD2
Abstract In approximately 3% to 6% of the patients with tetralogy of Fallot (TOF), the pulmonary valve leaflets are absent or only a rudimentary ridge of tissue is present. Some infants with the severe form of this syndrome die early during the newborn period due to severe respiratory distress, feeding intolerance, or cardiovascular compromise. Survival to adulthood of this combination is extremely unusual. In this article, we presented a case who was diagnosed in adult age with TOF having absent pulmonary valve syndrome. The patient with these findings underwent surgery, and complete repair was performed. Clinical symptoms resolved after surgery. Keywords absent pulmonary valve syndrome, tetralogy of Fallot, adulthood, congenital cardiac anomaly Submitted August 20, 2013; Accepted October 17, 2013.
Introduction In approximately 3% to 6% of the patients with tetralogy of Fallot (TOF), the pulmonary valve leaflets are absent or only a rudimentary ridge of tissue is present.1 The right ventricle (RV) is hypertrophied and may contain obstructing muscle bands in addition to infundibular narrowing. The pulmonary annulus is mildly to moderately hypoplastic with vestigial nubbins of nonfunctional myxomatous tissue rather than developed valve leaflets. The size of the main pulmonary artery (MPA) ranges from normal to aneurysmal depending on the severity of the anomaly, whereas the branch pulmonary arteries are markedly aneurysmal, often two to three times their normal diameters. It may clinically present with airway compression from dilated pulmonary arteries or congestive heart failure in early infantile period.2 Some infants with the severe form of this syndrome die early during the newborn period owing to severe respiratory distress, feeding intolerance, or cardiovascular compromise. Survival to adulthood of this combination is extremely unusual.3 In this article, we present a case with TOF-absent pulmonary valve syndrome (TOF-APVS) which was diagnosed in adult age and underwent a successful surgery.
Case Report A 31-year-old woman was evaluated for exertional dyspnea, fatigue, and cyanosis (New York Heart Association class III).
The heart rate was 80 beats/minute, and the blood pressure was 120/80 mm Hg. Auscultation revealed a single second heart sound, a grade 3/6 harsh systolic murmur, and a grade 3/6 early diastolic murmur, both were heard best at the left sternal edge. She had detectable cyanosis, and oxygen saturation was 70%. A chest radiograph demonstrated mild cardiomegaly, an enlarged left pulmonary artery (LPA), and right aortic arch (Figure 1). An electrocardiogram showed sinus tachycardia with signs of right atrial abnormality and right ventricular hypertrophy. Two-dimensional echocardiography showed dilatation of the MPA (33 mm, z score þ2.8), right pulmonary artery (RPA; 32 mm, z score þ5.3), and LPA (44 mm, z score þ7.9; Figure 2). There was no identifiable pulmonic valve tissue in the area of the right ventricular outflow tract (RVOT). Right ventricle was enlarged, and aortic arch was right sided. Left ventricular systolic function was normal. Color Doppler echocardiogram showed a bidirectional shunt across the ventricular septal defect. There was turbulent flow across the RVOT
1 Department of Pediatric Cardiology, Mehmet Akif Ersoy Cardiovascular Research and Training Hospital, Halkali, Istanbul, Turkey 2 Department of Pediatric Cardiovascular Surgery, Mehmet Akif Ersoy Cardiovascular Research and Training Hospital, Halkali, Istanbul, Turkey
Corresponding Author: Murat Saygi, Department of Pediatric Cardiology, Mehmet Akif Ersoy Research and Training Hospital, Bezirganbahce Street, Halkali, Istanbul, Turkey. Email: [email protected]
Downloaded from pch.sagepub.com at National Dong Hwa University on March 30, 2014
Saygi et al
331
Acronyms and Abbreviations APVS LPA MPA PA RPA RV RVOT TOF
absent pulmonary valve syndrome left pulmonary artery main pulmonary artery pulmonary artery right pulmonary artery right ventricle right ventricular outflow tract tetralogy of Fallot
Figure 2. Dilatation of main pulmonary artery, right pulmonary artery, and left pulmonary artery is seen on two-dimensional echocardiography. Ao indicates aorta; LPA, left pulmonary artery; MPA, main pulmonary artery; RPA, right pulmonary artery; RVOT, right ventricular outflow tract.
Figure 1. Chest radiography demonstrated mild cardiomegaly, an enlarged left pulmonary artery, and a right aortic arch.
with a pulmonary gradient of 90 mm Hg. There was a wide jet of pulmonic regurgitant flow essentially filling the RVOT (Figure 3). Cardiac catheterization also showed right ventricular dilatation, aneurysmal dilatation of the MPA, LPA, and RPA, and pulmonary regurgitation (Figure 4). Computerized tomographic angiography showed no coronary anomaly and no compression to coronary arteries and dilatation of the MPA, RPA, and LPA. The patient with these findings underwent surgery. Cardiopulmonary bypass was established with aortobicaval cannulation under 28 C. Cardiac arrest was done with antegrade cold blood-potassium cardioplegia. The aorta was divided for better exposure. Main, left, and right pulmonary arteries were dissected from hilus to hilus. A T-shaped piece of pulmonary artery (PA) was resected from anterior walls of the main, left, and right pulmonary arteries. The MPA portion of resection was carried out until the half length of the MPA. Then, a transannular incision was performed from MPA to RVOT. But, 1 cm MPA tissue was left intact between the pulmonary and transannular RVOT incisions to anchor the distal part of transannular patch (Figure 5). There was no native pulmonary valve tissue. Pulmonary artery incision was closed primarily. The ventricular septal defect was closed with bovine pericardial patch using continuous polypropylene suture through the RV. A 23-mm
Figure 3. Large regurgitation belonging to pulmonary insufficiency is seen on color Doppler echocardiography. Ao indicates aorta; LPA, left pulmonary artery; MPA, main pulmonary artery; PR, pulmonary regurgitation; RPA, right pulmonary artery.
Edwards SAPIEN Heart Valve (Edwards Lifesciences LLC, Irvine, CA, USA) was implanted. Interrupted sutures were used to secure the posterior portion of the bioprosthesis to the pulmonary annulus, and continuous sutures were used to secure
Downloaded from pch.sagepub.com at National Dong Hwa University on March 30, 2014
332
World Journal for Pediatric and Congenital Heart Surgery 5(2)
Figure 5. Operation image of our patient. *Intact MPA tissue between the pulmonary and the transannular RVOT incisions. LPA indicates left pulmonary artery; MPA, main pulmonary artery, RPA, right pulmonary artery; RVOT, right ventricular outflow tract. Figure 4. Dilatation of the main pulmonary artery, right pulmonary artery, and left pulmonary artery is seen angiographically. LPA indicates left pulmonary artery; MPA, main pulmonary artery; RPA, right pulmonary artery.
the anterior portion of the valve ring to the transannular bovine pericardial patch. Peroperative transesophageal echocardiography showed an open RVOT and no pulmonary insufficiency. Following the surgery, the patient’s clinical symptoms were resolved within a short period of time. She was put on warfarin treatment for 3 months and discharged on postoperative day 7.
Discussion The first description of TOF-APVS is attributed to Chevers in 1847, and the first detailed case report was published in 1927 by Kurtz et al who described the clinical features and postmortem findings of an 11-year-old boy. Despite an absence of pulmonary valve tissue, these patients usually exhibit some degree of RVOT obstruction.4 Although there are anatomic similarities to classic TOF, the pathophysiology and natural course of TOF-APVS are strikingly different. On examination, patients with TOF-APVS exhibit ‘‘to-and-fro’’ systolic and diastolic murmurs and a single second heart sound, whereas patients with isolated TOF rarely have a diastolic murmur.4 We heard a single second heart sound, a grade 3/6 harsh systolic murmur, and a grade 3/6 early diastolic murmur, both were the best at the left sternal edge. There is marked systolic expansion and diastolic collapse of the pulmonary regurgitation. The enlarged arteries can compress central and peripheral pulmonary bronchi, resulting in bronchial obstruction. Vascularity of the peripheral lung fields is either normal or reduced. In our case, there was an aneurysmal dilatation of the main, left, and
right pulmonary arteries. But there was not bronchial compression. In TOF-APVS, a dilated PA trunk can compress the coronary arteries. Sivakumar et al5 reported that they identified TOF-APVS and the absence of LPA in a 17-year-old patient who presented with chest pain and that the aneurysmal dilated PA was significantly compressing the left coronary artery proximally. Excision of the dilated PA during surgery is necessary in patients determined to have compression of the coronary artery during preoperative cardiac catheterization. In our case, the absence of a coronary compression was shown with cardiac catheterization and multislice computed tomography pulmonary angiography. Surgical repair for APVS remains one of the challenging and debated topics in pediatric cardiac surgery practice.6 Several surgical options have been suggested for management of TOF with absent pulmonary valve and, to date, no clear consensus exists as to which is the best.4 Surgical treatment includes modifications of several techniques, such as plication of aneurysmal pulmonary arteries, repositioning the PA anterior to the aorta to relieve airway obstruction, reconstruction of the RVOT using a transannular patch or valved conduit, and homograft replacement of aneurysmal pulmonary arteries.7 Some surgeons also suspend the LPA to the anterior chest wall on closing the chest, hoping to further release pressure on the bronchi. An alternative is to perform the Lecompte maneuver, that is, transect the ascending aorta during repair and move the RPA anterior to it, away from the tracheobronchial tree. The surgeon must also decide whether or not to implant a pulmonary valve at the time of the primary procedure, which usually requires placement of a valved RV-to-PA conduit. Our choice was to release and plicate the pulmonary arteries and to reconstruct the outflow tract using a transannular patch over a
Downloaded from pch.sagepub.com at National Dong Hwa University on March 30, 2014
Saygi et al
333
bioprosthetic valve. Because of the age of the patient, long durability of the bioprosthetic valve in pulmonary position and the possibility of transcatheter pulmonic valve insertion, probably there will not be a need of a second surgery. We especially used 23-mm valve which is of appropriate size for current transcatheter valve-in-valve insertions and for future transcatheter valve replacement. The clinical course and prognosis of patients with TOF and absent pulmonary valve are variable. Although there is probably a spectrum of disease, general consensus divides patients into two groups: those who exhibit severe respiratory problems in early in life and those who do not. Patients who present with severe respiratory compromise immediately after birth or in the first weeks of life will generally require urgent intervention and have a worse outcome than those who does not need early intervention with relatively minor respiratory involvement. Our patient had the typical findings of TOF-APVS, although these became apparent late in life. Survival of an adult with APVS is rarely reported in the literature. Hovis et al8 reported a 51-yearold case with TOF-APVS. Their case was the oldest one in the literature with TOF-APVS who have undergone a successful surgical repair. In another report, Sivakumar et al5 reported two other cases, aged 17 and 20 years, with TOF-APVS and without left pulmonary arteries. They reported that these two cases had a relatively asymptomatic childhood, which was attributed to pulmonary blood flow being regulated by a narrowed pulmonary annulus, sparing them from infantile heart failure. According to our knowledge, this report shows the fourth case in the literature who has reached adulthood without surgery. In conclusion, TOF-APVS is a relatively rare variant of TOF. There are only a few reported cases diagnosed with TOF-APVS in adult age in the literature as most of them are diagnosed at younger ages. Recognizing the typical symptoms and findings on physical examination and imaging studies requires a reasonable index of suspicion but will lead to the proper diagnosis and management of this syndrome in the adult patient. Some patients may present without bronchial compression symptoms, although they have aneurysmal dilatation of the pulmonary arteries. Surgical treatment is more complex when compared with classic TOF surgery, but it can be
successful and may cause significant improvement in the patient’s life. Declaration of Conflicting Interests The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Funding The author(s) received no financial support for the research, authorship, and/or publication of this article.
References 1. Nagao GI, Daoud GI, McAdams AJ, Schwartz DC, Kaplan S. Cardiovascular anomalies associated with tetralogy of Fallot. Am J Cardiol. 1967;20(2): 206-215. 2. Presbitero P, Pedretti E, Orzan F, et al. Absent pulmonary valve syndrome with associated anomalies of the pulmonary blood supply. Int J Cardiol. 1984;6(5): 587-598. 3. Lakier JB, Stanger P, Heymann MA, Hoffman JIE, Rudolph AM. Tetralogy of Fallot with absent pulmonary valve: natural history and hemodynamic considerations. Circulation. 1974;50(1): 167-175. 4. Allen DA, Driscoll DJ, Shaddy RE, Feltes TF. Moss and Adams’ Heart Disease in Infants, Children, and Adolescents: Including the Fetus and Young Adult. 8th ed. Philadelphia: Lippincott, Williams and Wilkins; 2013:975-976. 5. Sivakumar K, Pavithran S, Coelho R. Unusual clinical presentation of rare adult survivors with a missing pulmonary valve associated with a missing left pulmonary artery. Pediatr Cardiol. 2013 Dec; 34(8): 1899-1902. 6. Cho MJ, Park JA, Lee HD. A variant of tetralogy of Fallot with absent pulmonary valve: left pulmonary artery originate from left patent ductus arteriosus. Pediatr Cardiol. 2010;31(1): 153-154. 7. Abbag F. Unilateral absence of a pulmonary artery in absent pulmonary valve syndrome: a case report and review of the literature. Ann Thorac Cardiovasc Surg. 2006;12(5): 368-372. 8. Hovis SM, Rose JD, Sorrell VL. A rare congenital condition discovered (happily) late in life. tetralogy of Fallot with absent pulmonary valve. N C Med J. 2001;62(2): 82-85.
Downloaded from pch.sagepub.com at National Dong Hwa University on March 30, 2014
![[Tetralogy of Fallot with absent pulmonary valve].](/assets/img/hold.png)
