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Chest Wall Hypoplasia - Principles and Treatment

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Chest Wall Hypoplasia - Principles and Treatment Paediatric Respiratory Reviews 16 (2015) 30–34 Contents lists available at ScienceDirect Paediatric Respiratory Reviews Mini-symposium: Chest Wall Disease Chest Wall Hypoplasia - Principles and Treatment Oscar Henry Mayer * Associate Professor of Clinical Pediatrics, Perelman School of Medicine at The University of Pennsylvania, Division of Pulmonary Medicine, The Children’s Hospital of Philadelphia, 3501 Civic Center Boulevard, Philadelphia, PA 19104 EDUCATIONAL AIMS Understand the significance of chest wall and spine growth on lung growth and respiration. Understand how abnormal spine growth can cause chest wall hypoplasia and the treatment options available. Understand how abnormal lateral chest wall growth can impact lung development and the options for therapy. A R T I C L E I N F O S U M M A R Y Keywords: The chest is a dynamic structure. For normal movement it relies on a coordinated movement of the Chest wall hypoplasia multiple bones, joints and muscles of the respiratory system. While muscle weakness can have clear Jeune Syndrome impact on respiration by decreasing respiratory motion, so can conditions that cause chest wall Jarcho-Levin Syndrome hypoplasia and produce an immobile chest wall. These conditions, such as Jarcho-Levin and Jeune Spondylocostal dysostosis syndrome, present significantly different challenges than those faced with early onset scoliosis in which Spondylothoracic dysplasia chest wall mechanics and thoracic volume may be much closer to normal. Because of this difference more aggressive approaches to clinical and surgical management are necessary. ß 2014 Elsevier Ltd. All rights reserved. abnormal or asymmetric growth in even a small number these can INTRODUCTION cause non-syndromic early onset scoliosis (EOS) [1]. Compounding this issue of growth, however, is the actual The ribs of the chest wall and the spine provide the skeletal formation of the spine and ribs and the complex signaling that structure from which respiration occurs. The thoracospinal unit directs the differentiation of the mesenchyme [2]. When this is very dynamic with three-dimensional movement of the chest process does not occur properly there can be a variety of different cephalad, anteriorly and laterally. This occurs in a complex formation or segmentation problems that can produce absent or interaction between the diaphragm contraction increasing the incompletely formed or fused ribs [2]. When these defects are circumference of the lower rib cage and rotation at the costo- unilateral and localized to a relatively small portion of the chest vertebral joints increasing the circumference of the upper rib cage wall and/or spine EOS is often produced, but when these defects in the transverse plane and elevating the rib cage. Additionally, are broader and effect a large portion if not all of the chest wall or contraction of the accessory muscles of the neck and anterior chest spine chest wall hypoplasia can occur. will further elevate the rib cage. Many of these defects were described years ago and carry the The bones of the thoracospinal unit should grow symmetrically name(s) of the clinicians who first defined the condition, e.g. Jeune, with the rest of the body to support development and growth of the Jarcho-Levin, and Ellis-van Creveld syndrome. However, as the lungs to continue to meet the increasing metabolic demands. In field of genetics has progressed the majority of these conditions normal circumstances this growth occurs symmetrically at over have identified genes that help explain the onset of the condition 130 separate growth plates in the spine and chest wall [1]. However, itself and more broadly a better understanding of the formation of the spine and chest wall (Table 1). These various conditions can be grouped genetically based on * Tel.: +215 590 3749; fax: +215 590 3500. gene location, protein product, and inheritance [2]. The phenotype E-mail address: [email protected]. can be classified within the broader rubric of thoracic insufficiency http://dx.doi.org/10.1016/j.prrv.2014.10.012 1526-0542/ß 2014 Elsevier Ltd. All rights reserved. Table 1 A description of the variety of different conditions causing chest wall hypoplasia including both primary rib and spine disease [1]. Category Disorder Major findings Thoracic involvement Respiratory complications Inheritance Gene Mutation pattern Dominant Osteogenesis Multiple fractures; joint laxity; blue Rib fractures Pulmonary hypoplasia in severe Autosomal COL1A1 or Multiple negative imperfecta sclera; dentinogenesis imperfecta forms; unstable thorax after dominant COL1A2 action multiple rib fracture (procollagen molecules) Dominant Marfan syndrome Dolichostenomelia arachnodactyly; Scoliosis, kyphosis and pectus Rarely respiratory distress due to Autosomal FBN1 Multiple negative joint laxity; aortic dilatation excavatum or carinatum abnormal thorax dominant (Fibrillin 1) action Loss of function Marfan Dolichostenomelia arachnodactyly; Scoliosis, kyphosis and pectus Rarely respiratory distress due to Autosomal TGFBR2 Multiple syndrome 2 [1] joint laxity; aortic dilatation excavatum or carinatum abnormal thorax dominant (TGF-beta receptor 2) Loss of function Loeys-Dietz joint laxity; aortic dilatation; Scoliosis, pectus excavatum or Rarely respiratory distress due to Autosomal TGFBR1 or Multiple syndrome [2] hypertelorism; bifid uvula; carinatum abnormal thorax dominant TGFBR 2 micrognathia; patent ductus (TGF-beta arteriosus; arachnodactyly; receptor1, 2) Dominant Beals syndrome Dolichostenomelia; camptodactyly; Kyphoscoliosis Rare Autosomal FBN2 Multiple O.H. negative arachnodactyly; crumpled ears dominant (Fibrillin 2) Mayer action Gain of function Achondro- Rhizomelic dwarfism; Small rib cage; kyphosis May occur in infancy; upper Autosomal FGFR3 Gly380Arg / plasia macrocephaly airway obstruction possible dominant (Fibroblast Paediatric growth factor receptor 3) Gain of function Thanatophoric Short limbs, lethal dwarfism Narrow thorax due to shortened Lethal shortly after birth, often Sporadic cases FGFR3 Arg248Cys; Respiratory dysplasia ribs; flat vertebral bodies due to respiratory insufficiency due to new Lys650Glu; mutation others Haploinsufficiency Campomelic Bowing of long bones; male to Small thoracic cage with slender Respiratory insufficiency may Autosomal SOX9 Multiple Dysplasia female sex reversal; micrognathia ribs or decreased number of ribs. cause death in early infancy; dominant (transcription Reviews Kyphoscoliosis failure to thrive in survivors. factor) Haploinsufficiency Cleidocranial Wide anterior fontanel with delayed Partially or completely absent Rare Autosomal CBFA1 Multiple Dysplasia closure; excess teeth; mild short clavicle; narrow chest dominant (transcription 16 stature factor) (2015) Loss of function Ellis-van Creveld Short distal extremities; Small thoracic cage with short ribs Respiratory distress may occur Autosomal EVC Multiple syndrome polydactyly; nail hypoplasia; due to the small thorax or the recessive (Chondro-ectodermal cardiac defects cardiac defect 30–34 dysplasia) Loss of function Hypophosphatasia Undermineralized, hypoplastic and Short ribs and small thoracic cage Death due to respiratory Autosomal ALPL Multiple (neonatal form) fragile bones; rachitic rosary; insufficiency in neonatal period recessive (Alkaline hypercalcemia common phosphatase) Loss of function Jarcho-Levin syndrome Short neck; long digits with Short thorax with multiple vertebral Respiratory distress due to small Autosomal DLL3 multiple (Spondylothoracic camptodactyly defects and abnormal ribs thoracic volume causes death in recessive; (delta-like 3) dysplasia; infancy most cases Spondylocostal of Puerto dysostosis) Rican ancestry Unknown Jeune syndrome Short limbs; polydactyly; cystic Small, bell-shaped rib cage; Usually fatal neonatal asphyxia Autosomal unknown unknown (Asphyxiating thoracic renal lesions or chronic nephritis hypoplastic lungs recessive dystrophy) Unknown Cerebro-Costo-Mandibular Severe micrognathia; prenatal Small, bell-shaped thorax; gaps Respiratory insufficiency may Possibly Unknown Unknown syndrome growth deficiency between posterior ossified and cause neonatal death autosomal anterior cartilagineous ribs recessive or autosomal dominant Citations: 1. Mizuguchi, T., et al., Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet, 2004. 36(8): p. 855-60. 2. Loeys, B.L., et al., A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet, 2005. 37(3): p. 275-81. 31 32 O.H. Mayer / Paediatric Respiratory Reviews 16 (2015) 30–34 syndrome (TIS), which is the inability of the thorax to support a Puerto Rican cohort of 27 with longitudinal data the mortality normal growth and respiration [3]. Campbell described sub- rate was shown to be much lower at 45% [13]. Interestingly there categories or volume depletion deformities, with types 1 and was no difference in the chest circumference relative to normal for 2 representing asymmetric deformity from absent ribs or fused the survivors compared to those who died [13]. 28% survived into ribs, respectively, and type 3 being due to symmetric deformity in adulthood and were able to work and exercise without major vertical thoracic and spine growth (type 3a) or in lateral chest wall pulmonary problems [13]. growth (type 3b) [3]. The remainder of this manuscript will be a discussion on Surgical Approach specific representative examples of volume depletion deformity type 3a, Jarcho-Levin syndrome, and type 3b, Jeune syndrome,
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