Abstract
Alveolar capillary dysplasia is a fatal disorder of the lung that requires lung biopsy for diagnosis. We reviewed the course of patients with alveolar capillary dysplasia following implementation of an early lung biopsy strategy between 1997–2002. We performed immunohisto-chemical studies on all tissue specimens. We diagnosed 7 cases of alveolar capillary dysplasia. We diagnosed 6/7 cases of alveolar capillary dysplasia pre-mortem by early lung biopsy. Median time between admission and lung biopsy was 6.5 days. All patients survived lung biopsy but died following withdrawal of active therapy after confirmation of the tissue diagnosis. In 1 patient we demonstrated histological findings of alveolar capillary dysplasia and congenital acinar dysplasia. Two patients were first cousins. One patient underwent pulmonary angiography with rapid filling of the pulmonary veins before passage of contrast through the capillary bed. Five patients were supported with extracorporeal membrane oxygenation and 2/5 patients survived decannulation. During the same period 8 patients required ECMO for acute hypoxic respiratory failure. Four out of 8 were diagnosed with alveolar capillary dysplasia.
Conclusions: Early lung biopsy was performed with low risk and high diagnostic yield for alveolar capillary dysplasia. Alveolar capillary dysplasia occurs frequently in neonates who require ECMO support for refractory pulmonary hypertension. We have added an additional familial case and suggest a novel angiographic finding.
References
1 Abdallah HI, N Karmazin, LA Marks: Late presentation of misalignment of lung vessels with alveolar capillary dysplasia. Crit Care Med21(4) (1993) 628Search in Google Scholar
2 Adolph V, H Flageole, T Perreault, A Johnston, L Nguyen, S Youssef, G Guttman, JM Laberge: Repair of congenitaldiaphragmatic hernia after weaning from extracorporeal membrane oxygenation. J Pediatr Surg30 (1995) 349Search in Google Scholar
3 Alameh J, A Bachiri, L Devisme, P Truffert, T Rakza, Y Riou, S Manouvrier, P Lequien, L Storm: Alveolar capillary dysplasia: a cause of persistent pulmonary hypertension of the newborn. Eur J Pediatr161 (2002) 262Search in Google Scholar
4 Atz AM, JA Feinstein, RA Jonas, SB Perry, DL Wessel: Preoperative management of pulmonary venous hypertension in hypoplastic left heart syndrome with restrictive atrial septal defect. Am J Cardiol83 (1999) 1224Search in Google Scholar
5 Becker AE, MJ Becker, JE Edwards: Dilated bronchial veins within pulmonary parenchyma. Arch Path21 (1971) 256Search in Google Scholar
6 Boggs S, MC Harris, DJ Hoffman, R Goal, D McDonald-McGinn, C Langston, E Zackal, E Ruchelli: Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable phenotype expression. J Pediatr124(1) (1994) 125Search in Google Scholar
7 Bond SJ, DJ Lee, DL Stewart, JJ Buchino: Open lung biopsy in pediatric patients on ECMO. J Pediatr Surg33 (1998) 1327Search in Google Scholar
8 Bridges ND, GB Mallory, CB Huddleston, CE Canter, TL Spray: Lung transplantation in infancy and early childhood. J Heart Lung Transplant15 (1996) 895Search in Google Scholar
9 Cassidy J, J Smith, A Goldman, S Haynes, E Smith, C Wright, S Haworth, P Davis, R Firmin, K Kasem, C Davis: The incidence and characteristics of neonatal irreversible lung dysplasia. J Pediatr141 (2002) 426Search in Google Scholar
10 Cater G, DW Thibeault, EC Beatty, HW Kilbride, M Huntrakoon: Misalignment of lung vessels and alveolar capillary dysplasia: a cause of persistent pulmonary hypertension. J Pediatr114 (1989) 293Search in Google Scholar
11 Chelliah BP, D Brown, M Cohen, AJ Talleyrand, S Shen-Schwarz: Alveolar capillary dysplasia – a cause of persistent pulmonary hypertension unresponsive to a second course of extracorporeal membrane oxygenation. Pediatrics (1995) 115910.1542/peds.96.6.1159Search in Google Scholar
12 Christou H, I Adatia, LJV Marter, JW Kane, JE Thompson, AR Stark, DL Wessel, S Kourembanos: Effect of inhaled nitric oxide on endothelin-1 and cyclic guanosine 5'-monophosphate plasma concentrations in newborn infants with persistent pulmonary hypertension. J Pediatr130 (1997) 603Search in Google Scholar
13 Cullinane C, P Cox, M Silver: Persistent pulmonary hypertension of the newborn due to alveolar capillary dysplasia. Pediatr Pathol12 (1992) 499Search in Google Scholar
14 Davidson LA, P Batman, DG Fagan: Congenital acinar dysplasia: a rare cause of pulmonary hypoplasia. Histopathology32 (1998) 57Search in Google Scholar
15 Galambos C, Y-S Ng, A Ali, A Noguchi, S Lovejoy, PA D'Amore, DE deMello: Defective pulmonary development in the absence of heparin-binding vascular endothelial growth factor isoforms. Am J Respir Cell Mol Biol27 (2002) 194Search in Google Scholar
16 Garola RE, DW Thibeault: Alveolar capillary dysplasia, with and without misalignment of pulmonary veins: an association of congenital anomalies. Am J Perinatol15 (1998) 103Search in Google Scholar
17 Gutierrez C, A Rodriguez, S Palenzuela, C Forteza, JL Rosello: Congenital misalignment of pulmonary veins with alveolar capillary dysplasia causing persistent neonatal pulmonary hypertension: report of two affected siblings. Pediatr Dev Pathol3 (2000) 271Search in Google Scholar
18 Haraida S, H Lochbühler, A Heger, A Nerlich, J Diebold, I Wiest, J Müller-Höcker, U Löhrs: Congenital alveolar capillary dysplasia: rare cause of persistent pulmonary hyper-tension. Pediatr Path Lab Med17 (1997) 959Search in Google Scholar
19 Hintz SR, JA Vincent, PT Pitlick, JR Fineman, RH Steinhorn, GE Kim, WE Benitz: Alveolar capillary dysplasia: diagnostic potential for cardiac catheterization. J Perinatology19 (1999) 441Search in Google Scholar
20 Inwald D, K Brown, F Gensini, M Malone, A Goldman: Open lung biopsy in neonatal and paediatric patients referred for extracorporeal membrane oxygenation (ECMO). Thorax59(4) (2004) 328Search in Google Scholar
21 Janney CG, FB Askin, C Kuhn: Congenital alveolar capillary dysplasia – an unusual cause of respiratory distress in the newborn. Am J Clin Path76(3) (1981) 722Search in Google Scholar
22 Kitayama Y, S Kamata, H Okuyama, N Usui, T Sawai, T Kobayashi, Y Fukui, A Okada: Nitric oxide inhalation therapy for an infant with persistent pulmonary hypertension caused by misalignment of pulmonary veins with alveolar capillary dysplasia. J Pediatr Surg32 (1997) 99Search in Google Scholar
23 Lane JR, E Siwik, T Preminger, E Stork, M Spector: Prospective diagnosis of alveolar capillary dysplasia in infants with congenital heart disease. Am J Cardiol84 (1999) 618Search in Google Scholar
24 Licht C, S Schickendantz, N Sreeram, G Arnold, R Rossi, A Vierzig, U Mennicken, B Roth: Prolonged survival inalveolar capillary dysplasia syndrome. Eur J Pediatr163(3) (2004) 181Search in Google Scholar
25 MacMahon HE: Congenital alveolar dysplasia of the lungs. Am J Path24(4) (1948) 919Search in Google Scholar
26 Manouvrier-Hanu S, L Devisme, I Farre, V Hue, L Storme, N Kacet, O Boute-Benejean, JP Farriaux: Pulmonary hypertension of the newborn and urogenital anomalies in two male siblings: a new family with misalignment of pulmonary vessels. Genetic Counseling7 (1996) 249Search in Google Scholar
27 Matthews AW, R Buchanan: A case of pulmonary veno-occlusive disease and a new bronchoscopic sign. Respir Med84 (1990) 503Search in Google Scholar
28 McGaughran J, DJ Souter, CA Kuschel: Alveolar capillary dysplasia with antenatal anomalies mimicking trisomy 21.J Paediatr Child Health37 (2001) 85Search in Google Scholar
29 Merchak A, GT Lueder, FV White, FS Cole: Alveolar capillary dysplasia with misalignment of pulmonary veins and anterior segment dysgenesis of the eye: report of a new association and review of the literature. J Perinatol21 (2001) 327Search in Google Scholar
30 Moerman P, C Vanhole, H Devlieger, H Fryns: Severe primary pulmonary hypoplasia (“acinar dysplasia”) in sibs: a genetically determined mesodermal defect? J Med Genetics35(11) (1998) 964Search in Google Scholar
31 Newman B, E Yunis: Primary alveolar capillary dysplasia. Pediatr Radiol21 (1990) 20Search in Google Scholar
32 Parker TA, DD Ivy, JP Kinsella, F Torielli, SZ Ruyle, EH Thilo, SH Abman: Combined therapy with inhaled nitric oxide and intravenous prostacyclin in an infant with alveolar-capillary dysplasia. Am J Respir Care Med155 (1997) 743Search in Google Scholar
33 Pucci A, C Zanini, F Ferrero, R Arisio, A Valori, P Abbruzzese, M Forni: Misalignment of lung vessels: diagnostic role of conventional histology and immunohistochemistry. Virchows Arch442(6) (2003) 597Search in Google Scholar
34 Rabah R, JM Poulik: Congenital alveolar capillary dysplasia with misalignment of pulmonary veins associated with hypoplastic left heart syndrome. Pediatric and Develop-mental Pathology4 (2001) 167Search in Google Scholar
35 Rutledge JC, P Jensen: Acinar dysplasia: a new form of pulmonary maldevelopment. Hum Pathol17 (1986) 1290Search in Google Scholar
36 Rychik J, JJ Rome, MH Collins, WM DeCampli, TL Spray: The hypoplastic left heart syndrome with intact atrialseptum: atrial morphology, pulmonary vascular histopathology and outcome. J Am Coll Cardiol34 (1999) 554Search in Google Scholar
37 Sigalet DL, A Tierney, V Adolph, T Perreault, N Finer, R Hallgreen, JM Laberge: Timing of repair of congenital diaphragmatic hernia requiring extracorporeal membrane oxygenation support. J Pediatr Surg30 (1995) 1183Search in Google Scholar
38 Simonton S, B Chrenka: Familial persistent pulmonary hypertension in two siblings with phocomelia and alveolar capillary dysplasia (ACD) A new syndrome? Mod Pathol6 (1993) 9Search in Google Scholar
39 Sirkin W, BP O'Hare, PN Cox, D Perrin, MM Silver: Alveolar capillary dysplasia: lung biopsy diagnosis, nitric oxide responsiveness, and bronchial generation count. Pediatric Pathology and Laboratory Medicine17 (1997) 125Search in Google Scholar
40 Steinhorn RH, PN Cox, JR Fineman, NN Finer, EM Rosenberg, MM Silver, J Tyebkhan, MS Zwass, FC Morin: Inhaled nitric oxide enhances oxygenation but not survival in infants with alveolar capillary dysplasia. J Pediatr130(3) (1997) 417Search in Google Scholar
41 Thibeault DW, RE Garcia, HW Kilbride: Alveolar capillary dysplasia: an emerging syndrome. J Pediatr 134 (1999)10.1016/S0022-3476(99)70264-7Search in Google Scholar
42 Tibballs J, CW Chow: Incidence of alveolar capillary dysplasia in severe idiopathic persistent pulmonary hypertension of the newborn. J Paediatr Child Health38 (2002) 397Search in Google Scholar
43 Vassa HB, M Malone, AJ Petros, RM Winter: Familial persistent pulmonary hypertension of the newborn resulting from misalignment of the pulmonary vessels (cogenital alveolar capillary dysplasia). J Med Genet35 (1998) 58Search in Google Scholar
44 Vick RN, T Owens, KJ Moise, N Chescheir, TP Bukowski: Urethral atresia in a neonate with alveolar capillary dysplasia and pulmonary venous misalignment. Urology55 (2000) 774Search in Google Scholar
45 Wagenvoort CA: Misalignment of lung vessels: a syndrome causing persistent neonatal pulmonary hyper-tension. Human Pathol17(7) (1986) 727Search in Google Scholar
46 Witters I, K Devriendt, P Moerman, J Caudron, CV Hole, J-P Fryns: Bilateral tibial agenesis with ectrodactyly (OMIM 119100); further evidence for autosomal recessive inheritance. Am J Med Genet104 (2001) 209Search in Google Scholar
©2005 by Walter de Gruyter Berlin New York