Case Report
Adult Survivor With Repaired Complete Pentalogy of Cantrell
World Journal for Pediatric and Congenital Heart Surgery 2014, Vol. 5(4) 586-588 ª The Author(s) 2014 Reprints and permission: sagepub.com/journalsPermissions.nav DOI: 10.1177/2150135114540181 pch.sagepub.com
Katherine M. Mizelle, MD1, Melissa Holtzlander, MD2, Fatima Ajaz, MD3, Patrick I. McConnell, MD4, and Mark L. Splaingard, MD2
Abstract Pentalogy of Cantrell is a very rare condition with very high mortality. We present an adult survivor with a classic pentad who underwent sequential surgical repairs as a neonate, child, and young adult. He required home mechanical ventilation for the first two years of life and subsequently needed noninvasive nocturnal ventilation as an adult. Keywords adult congenital heart disease Submitted February 05, 2014; Accepted May 27, 2014.
Introduction Pentalogy of Cantrell, first described by Cantrell et al in 1958, is a generally lethal congenital malformation characterized by midline defects due to defective development of septum transversum, comprised of the following five findings1: 1) 2) 3) 4) 5)
congenital heart defect; anterior diaphragmatic defects; defect of the diaphragmatic pericardium; defect of the lower part of the sternum; and midline supraumbilical abdominal wall defect.
This case report describes a very rare adult POC survivor who developed nocturnal hypoventilation secondary to restrictive lung disease necessitating noninvasive nocturnal ventilation after being support free since early childhood.
Case Report A 19-year-old caucasian male born with tetralogy of Fallot (TOF), anterior diaphragmatic and pericardial defects, cleft sternum, and supraumbilical omphalocele. He underwent an omphalocele repair shortly after birth and a cardiac catheterization with balloon valvuloplasty at six weeks of age. He had surgery for TOF at four months of age (ventricular septal defect [VSD] closure and a 12-mm right ventricle [RV] to pulmonary artery [PA] conduit) with subsequent tracheostomy at five months of age. At nine months of age, he required a balloon dilatation of the conduit. At 11 months of age, he underwent reconstruction of his anterior
abdominal wall, repair of a large Morgagni hernia with removal of liver from the thorax, pericardial repair, and Marlex mesh repair of sternal cleft. He was subsequently weaned from nocturnal home ventilation with tracheostomy decannulation at 23 months. At 33 months old, he had an atrial septal defect (ASD) closure and RV-PA conduit revision with an 18-mm Hancock valved conduit. At 16 years of age, he underwent transcatheter pulmonary valve replacement with an 18-mm Medtronic Melody pulmonary valve due to severe conduit stenosis, as he was felt to be too high risk for surgical conduit replacement due to his significant restrictive lung disease. At that time, his left ventricular ejection fraction (LVEF) was 50% and his RV fractional area change (RVFAC) was 45%. Eighteen months later, he developed a complicated methicillin-resistant staphylococcus aureus (MRSA) endocarditis of Melody valve with severe regurgitation and moderate 1 Department of Pediatric Cardiology, Nationwide Children’s Hospital, The Ohio State University Wexner Medical Center, Columbus, OH, USA 2 Department of Pediatric Pulmonary/Sleep Medicine, Nationwide Children’s Hospital, The Ohio State University Wexner Medical Center, Columbus, OH, USA 3 Department of Pulmonary, Allergy, Critical Care and Sleep Medicine, The Ohio State University Wexner Medical Center, Columbus, OH, USA 4 Department of Cardiothoracic Surgery, Nationwide Children’s Hospital, Columbus, OH, USA
Corresponding Author: Mark L. Splaingard, Department of Pediatric Pulmonary and Sleep Medicine, Nationwide Children’s Hospital, 700 Children’s Dr. Columbus, Ohio, USA. Email: [email protected]
Downloaded from pch.sagepub.com at FRESNO PACIFIC UNIV on January 18, 2015
Mizelle et al
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Abbreviations and Acronyms BiPAP ETCO2 FEV1 FVC LVEF MRSA PA POC PSG RV RVFAC TLC VSD
bilevel positive airway pressure end-tidal carbon dioxide forced expiratory volume in one second forced vital capacity left ventricular ejection fraction methicillin-resistant staphylococcus aureus pulmonary artery Pentalogy of Cantrell polysomnogram right ventricle RV fractional area change total lung capacity ventricular septal defect
stenosis. His pulmonary status worsened with progressive hypercapnia (Figure 1) necessitating intermittent bilevel positive airway pressure (BiPAP). He underwent excision of the affected graft and placement of a 21-mm RV to PA homograft conduit. After surgery, LVEF was 44% and RVFAC was 24%. Pulmonary function testing after surgery showed severe restrictive lung disease with forced vital capacity (FVC) 22%, forced expiratory volume in one second (FEV1) 23%, and total lung capacity (TLC) 2.2 L. Oxygen saturation awake on room air was 96% to 98% with nocturnal desaturation to the 60’s on pulse oximetry study. On polysomnogram (PSG) done with supplemental FiO2 of 0.5 lpm, he had minimal snoring, obstructive apneahypopnea index (AHI) of 4 events/h, and end-tidal carbon dioxide (ETCO2) >50 torr for 38% of sleep time with maximal ETCO2 47 torr awake and 66 torr asleep. He had oxygen desaturations into the 50 percent range during rapid eye movement (REM) sleep. Morning capillary blood gas during PSG showed PCO2 66 torr with simultaneous ETCO2 50 torr (Figure 1). On BiPAP titration study, he was well ventilated and oxygenated with inspiratory positive airway pressure (IPAP) ¼ 15 cwp and expiratory positive airway pressure (EPAP) ¼ 7 cwp on room air. Follow-up 12 months later showed pulmonary function had improved to FVC 33%, FEV1 33% with 15% drop in supine position, and TLC 2.41 L. His 6-minute walk distance was 580 m. Cardiac function had improved to baseline, LVEF 52%, and RVFAC 50%. Currently, he attends college and uses BiPAP at night with only mild exercise limitation walking between classes.
Discussion There have been recent excellent reviews of the embryology, genetics, classification, surgical approaches, and survival in POC, with very rare survival/function in older children or adults.2,3 These reviews distinguish between children with all five findings of POC (complete pentad) and children with milder forms (incomplete pentads), with only some of the five classical features. One case series further subdivides complete POC into groups with and without associated ectopia cordis, noting significant
risk of mortality when ectopia cordis is present.4 One retrospective case series reported only three of seven children with POC survive outside of the neonatal period.5 Survivors with even an incomplete POC were very rare before 1985. Care of children with complete POC after successful repairs is often complicated by a prolonged need for at least partial ventilatory support. The first description we could find describing ventilator weaning following successful repair of an infant with severe POC was nested in a large study of chronic respiratory failure in infants with prolonged ventilator dependency from 1987.6 That study mentions one infant with defects consistent with POC who was weaned and decannulated after a prolonged ventilator course in hospital. Reports of home mechanical ventilation from that era do report children with cyanotic congenital heart diseases but no cases consistent with POC.7,8 Cantrell et al in their original case series over 50 years ago outlining the findings of POC described a patient who survived into adulthood with a partial pentad POC without any surgeries until 14 years old.1 The largest series from a single institution reported a 43-year experience with 22 cases of POC with 6 (27%) survivors. One patient has been followed 23 years after surgery.4 To our knowledge, there has been no other reports of either survival or cardiorespiratory function in an adolescent or adult with a complete pentad POC. One in our group (MS) cared for two children born in the 1980s at another institution with complete POC but milder congenital heart defects. The first infant was born with a VSD. The second infant had transposition of great arteries. Both required tracheostomies and home mechanical ventilation while undergoing staged surgical repairs. Both were eventually decannulated and weaned from ventilatory support at two to three years. Both remained with good neurological function and reasonable exercise tolerance (community ambulation) and attending regular school until they were lost to follow-up during adolescence. The need for nocturnal ventilatory support seemed to develop outside of childhood in this young adult with POC and restrictive lung disease after MRSA endocarditis resulted in reduced cardiac function with markedly decreased biventricular systolic contractility. The hypoxic drive and the ventilatory response to PaCO2 are dampened during sleep, particularly REM sleep, leading to reduced minute ventilation, oxygen desaturation, and elevation in PaCO2. This is even more pronounced in restrictive lung disease.9 This case highlights that a coordinated multidisciplinary approach for infants with complete POC may require initial home mechanical ventilation to assist survival into adulthood and later monitor for future development of respiratory insufficiency. We believe our patient’s recovery from surgery for severe endocarditis was augmented by initiation of BiPAP for nocturnal hypoventilation secondary to restrictive lung disease. This nocturnal hypoventilation persisted and requires ongoing BiPAP support.
Downloaded from pch.sagepub.com at FRESNO PACIFIC UNIV on January 18, 2015
588
World Journal for Pediatric and Congenital Heart Surgery 5(4)
Figure 1. PCO2 values around time of institution of nocturnal bilevel positive airway pressure support.
Acknowledgments Informed consent for presentation of this case report was obtained from the patient and his parents. The surgeons who also cared for this patient include Dennis Shermata, MD, Toledo Hospital, Fouad Butto, MD, Toledo Childrens Heart Center, Frederick Alexander, MD, and Roger Mee, MD, Cleveland Clinic.
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. Cantrell JR, Haller JA, Ravitch MM. A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart. Surg Gynecol Obstet. 1958;107(5): 602-614. 2. Mallula K, Sosnowski C, Awad S. Spectrum of Cantrell’s pentalogy: case series from a single tertiary care center and review of the literature. Pediatr Cardiol. 2013;34(7): 1703-1710. doi; 10.1007/ s00246-013-0706-4
3. Santiago Restrepo M, Cerqua A, Turek JW. Pentalogy of Cantrell with ectopia cordis totalis, total anamalous pulmonary venous connection and tetralogy of fallot: a case report and review of the literature [published online June 10, 2013]. Congenit Heart Dis. 2013;1-6. 4. Balderrabano-Saucedo N, Vizcaino-Alarcon A, Sandoval-Serrano E, et al. Pentalogy of Cantrell: Forty-two Years of Experience in the Hospital Infantil de Mexico Federico Gomez. World J Ped Cong Heart Surgery. 2011;2(2): 211-218. 5. Clodagh S, O’Gorman CS, Tortoriello TA, McMahon CJ. Outcome of children with pentalogy of cantrell following cardiac surgery. Pediatr Cardiol. 2009;30(4): 426-430. 6. Schreiner MS, Downes JJ, Kettrick RG, Ise C, Voit R. Chronic respiratory failure in infants with prolonged ventilator dependency. JAMA. 1987;258(23): 3398-3404. 7. Schreiner MS, Donar ME, Kettrick RG. Pediatric home mechanical ventilation. Pediatr Clin North Am. 1987;4(1): 47-60. 8. Splaingard ML, Frates RC Jr, Harrison GM, Carter RE, Jefferson LA. Home positive pressure ventilation: twenty years experience. Chest. 1983;84: 376-3819. 9. Clinical indications for noninvasive positive pressure ventilation in chronic respiratory failure due to restrictive lung disease, COPD, and nocturnal hypoventilation–a consensus conference report. Chest. 1999;116(2): 521-534.
Downloaded from pch.sagepub.com at FRESNO PACIFIC UNIV on January 18, 2015
Adult Survivor With Repaired Complete Pentalogy of Cantrell
World Journal for Pediatric and Congenital Heart Surgery 2014, Vol. 5(4) 586-588 ª The Author(s) 2014 Reprints and permission: sagepub.com/journalsPermissions.nav DOI: 10.1177/2150135114540181 pch.sagepub.com
Katherine M. Mizelle, MD1, Melissa Holtzlander, MD2, Fatima Ajaz, MD3, Patrick I. McConnell, MD4, and Mark L. Splaingard, MD2
Abstract Pentalogy of Cantrell is a very rare condition with very high mortality. We present an adult survivor with a classic pentad who underwent sequential surgical repairs as a neonate, child, and young adult. He required home mechanical ventilation for the first two years of life and subsequently needed noninvasive nocturnal ventilation as an adult. Keywords adult congenital heart disease Submitted February 05, 2014; Accepted May 27, 2014.
Introduction Pentalogy of Cantrell, first described by Cantrell et al in 1958, is a generally lethal congenital malformation characterized by midline defects due to defective development of septum transversum, comprised of the following five findings1: 1) 2) 3) 4) 5)
congenital heart defect; anterior diaphragmatic defects; defect of the diaphragmatic pericardium; defect of the lower part of the sternum; and midline supraumbilical abdominal wall defect.
This case report describes a very rare adult POC survivor who developed nocturnal hypoventilation secondary to restrictive lung disease necessitating noninvasive nocturnal ventilation after being support free since early childhood.
Case Report A 19-year-old caucasian male born with tetralogy of Fallot (TOF), anterior diaphragmatic and pericardial defects, cleft sternum, and supraumbilical omphalocele. He underwent an omphalocele repair shortly after birth and a cardiac catheterization with balloon valvuloplasty at six weeks of age. He had surgery for TOF at four months of age (ventricular septal defect [VSD] closure and a 12-mm right ventricle [RV] to pulmonary artery [PA] conduit) with subsequent tracheostomy at five months of age. At nine months of age, he required a balloon dilatation of the conduit. At 11 months of age, he underwent reconstruction of his anterior
abdominal wall, repair of a large Morgagni hernia with removal of liver from the thorax, pericardial repair, and Marlex mesh repair of sternal cleft. He was subsequently weaned from nocturnal home ventilation with tracheostomy decannulation at 23 months. At 33 months old, he had an atrial septal defect (ASD) closure and RV-PA conduit revision with an 18-mm Hancock valved conduit. At 16 years of age, he underwent transcatheter pulmonary valve replacement with an 18-mm Medtronic Melody pulmonary valve due to severe conduit stenosis, as he was felt to be too high risk for surgical conduit replacement due to his significant restrictive lung disease. At that time, his left ventricular ejection fraction (LVEF) was 50% and his RV fractional area change (RVFAC) was 45%. Eighteen months later, he developed a complicated methicillin-resistant staphylococcus aureus (MRSA) endocarditis of Melody valve with severe regurgitation and moderate 1 Department of Pediatric Cardiology, Nationwide Children’s Hospital, The Ohio State University Wexner Medical Center, Columbus, OH, USA 2 Department of Pediatric Pulmonary/Sleep Medicine, Nationwide Children’s Hospital, The Ohio State University Wexner Medical Center, Columbus, OH, USA 3 Department of Pulmonary, Allergy, Critical Care and Sleep Medicine, The Ohio State University Wexner Medical Center, Columbus, OH, USA 4 Department of Cardiothoracic Surgery, Nationwide Children’s Hospital, Columbus, OH, USA
Corresponding Author: Mark L. Splaingard, Department of Pediatric Pulmonary and Sleep Medicine, Nationwide Children’s Hospital, 700 Children’s Dr. Columbus, Ohio, USA. Email: [email protected]
Downloaded from pch.sagepub.com at FRESNO PACIFIC UNIV on January 18, 2015
Mizelle et al
587
Abbreviations and Acronyms BiPAP ETCO2 FEV1 FVC LVEF MRSA PA POC PSG RV RVFAC TLC VSD
bilevel positive airway pressure end-tidal carbon dioxide forced expiratory volume in one second forced vital capacity left ventricular ejection fraction methicillin-resistant staphylococcus aureus pulmonary artery Pentalogy of Cantrell polysomnogram right ventricle RV fractional area change total lung capacity ventricular septal defect
stenosis. His pulmonary status worsened with progressive hypercapnia (Figure 1) necessitating intermittent bilevel positive airway pressure (BiPAP). He underwent excision of the affected graft and placement of a 21-mm RV to PA homograft conduit. After surgery, LVEF was 44% and RVFAC was 24%. Pulmonary function testing after surgery showed severe restrictive lung disease with forced vital capacity (FVC) 22%, forced expiratory volume in one second (FEV1) 23%, and total lung capacity (TLC) 2.2 L. Oxygen saturation awake on room air was 96% to 98% with nocturnal desaturation to the 60’s on pulse oximetry study. On polysomnogram (PSG) done with supplemental FiO2 of 0.5 lpm, he had minimal snoring, obstructive apneahypopnea index (AHI) of 4 events/h, and end-tidal carbon dioxide (ETCO2) >50 torr for 38% of sleep time with maximal ETCO2 47 torr awake and 66 torr asleep. He had oxygen desaturations into the 50 percent range during rapid eye movement (REM) sleep. Morning capillary blood gas during PSG showed PCO2 66 torr with simultaneous ETCO2 50 torr (Figure 1). On BiPAP titration study, he was well ventilated and oxygenated with inspiratory positive airway pressure (IPAP) ¼ 15 cwp and expiratory positive airway pressure (EPAP) ¼ 7 cwp on room air. Follow-up 12 months later showed pulmonary function had improved to FVC 33%, FEV1 33% with 15% drop in supine position, and TLC 2.41 L. His 6-minute walk distance was 580 m. Cardiac function had improved to baseline, LVEF 52%, and RVFAC 50%. Currently, he attends college and uses BiPAP at night with only mild exercise limitation walking between classes.
Discussion There have been recent excellent reviews of the embryology, genetics, classification, surgical approaches, and survival in POC, with very rare survival/function in older children or adults.2,3 These reviews distinguish between children with all five findings of POC (complete pentad) and children with milder forms (incomplete pentads), with only some of the five classical features. One case series further subdivides complete POC into groups with and without associated ectopia cordis, noting significant
risk of mortality when ectopia cordis is present.4 One retrospective case series reported only three of seven children with POC survive outside of the neonatal period.5 Survivors with even an incomplete POC were very rare before 1985. Care of children with complete POC after successful repairs is often complicated by a prolonged need for at least partial ventilatory support. The first description we could find describing ventilator weaning following successful repair of an infant with severe POC was nested in a large study of chronic respiratory failure in infants with prolonged ventilator dependency from 1987.6 That study mentions one infant with defects consistent with POC who was weaned and decannulated after a prolonged ventilator course in hospital. Reports of home mechanical ventilation from that era do report children with cyanotic congenital heart diseases but no cases consistent with POC.7,8 Cantrell et al in their original case series over 50 years ago outlining the findings of POC described a patient who survived into adulthood with a partial pentad POC without any surgeries until 14 years old.1 The largest series from a single institution reported a 43-year experience with 22 cases of POC with 6 (27%) survivors. One patient has been followed 23 years after surgery.4 To our knowledge, there has been no other reports of either survival or cardiorespiratory function in an adolescent or adult with a complete pentad POC. One in our group (MS) cared for two children born in the 1980s at another institution with complete POC but milder congenital heart defects. The first infant was born with a VSD. The second infant had transposition of great arteries. Both required tracheostomies and home mechanical ventilation while undergoing staged surgical repairs. Both were eventually decannulated and weaned from ventilatory support at two to three years. Both remained with good neurological function and reasonable exercise tolerance (community ambulation) and attending regular school until they were lost to follow-up during adolescence. The need for nocturnal ventilatory support seemed to develop outside of childhood in this young adult with POC and restrictive lung disease after MRSA endocarditis resulted in reduced cardiac function with markedly decreased biventricular systolic contractility. The hypoxic drive and the ventilatory response to PaCO2 are dampened during sleep, particularly REM sleep, leading to reduced minute ventilation, oxygen desaturation, and elevation in PaCO2. This is even more pronounced in restrictive lung disease.9 This case highlights that a coordinated multidisciplinary approach for infants with complete POC may require initial home mechanical ventilation to assist survival into adulthood and later monitor for future development of respiratory insufficiency. We believe our patient’s recovery from surgery for severe endocarditis was augmented by initiation of BiPAP for nocturnal hypoventilation secondary to restrictive lung disease. This nocturnal hypoventilation persisted and requires ongoing BiPAP support.
Downloaded from pch.sagepub.com at FRESNO PACIFIC UNIV on January 18, 2015
588
World Journal for Pediatric and Congenital Heart Surgery 5(4)
Figure 1. PCO2 values around time of institution of nocturnal bilevel positive airway pressure support.
Acknowledgments Informed consent for presentation of this case report was obtained from the patient and his parents. The surgeons who also cared for this patient include Dennis Shermata, MD, Toledo Hospital, Fouad Butto, MD, Toledo Childrens Heart Center, Frederick Alexander, MD, and Roger Mee, MD, Cleveland Clinic.
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. Cantrell JR, Haller JA, Ravitch MM. A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart. Surg Gynecol Obstet. 1958;107(5): 602-614. 2. Mallula K, Sosnowski C, Awad S. Spectrum of Cantrell’s pentalogy: case series from a single tertiary care center and review of the literature. Pediatr Cardiol. 2013;34(7): 1703-1710. doi; 10.1007/ s00246-013-0706-4
3. Santiago Restrepo M, Cerqua A, Turek JW. Pentalogy of Cantrell with ectopia cordis totalis, total anamalous pulmonary venous connection and tetralogy of fallot: a case report and review of the literature [published online June 10, 2013]. Congenit Heart Dis. 2013;1-6. 4. Balderrabano-Saucedo N, Vizcaino-Alarcon A, Sandoval-Serrano E, et al. Pentalogy of Cantrell: Forty-two Years of Experience in the Hospital Infantil de Mexico Federico Gomez. World J Ped Cong Heart Surgery. 2011;2(2): 211-218. 5. Clodagh S, O’Gorman CS, Tortoriello TA, McMahon CJ. Outcome of children with pentalogy of cantrell following cardiac surgery. Pediatr Cardiol. 2009;30(4): 426-430. 6. Schreiner MS, Downes JJ, Kettrick RG, Ise C, Voit R. Chronic respiratory failure in infants with prolonged ventilator dependency. JAMA. 1987;258(23): 3398-3404. 7. Schreiner MS, Donar ME, Kettrick RG. Pediatric home mechanical ventilation. Pediatr Clin North Am. 1987;4(1): 47-60. 8. Splaingard ML, Frates RC Jr, Harrison GM, Carter RE, Jefferson LA. Home positive pressure ventilation: twenty years experience. Chest. 1983;84: 376-3819. 9. Clinical indications for noninvasive positive pressure ventilation in chronic respiratory failure due to restrictive lung disease, COPD, and nocturnal hypoventilation–a consensus conference report. Chest. 1999;116(2): 521-534.
Downloaded from pch.sagepub.com at FRESNO PACIFIC UNIV on January 18, 2015
