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Pectus Excavatum and Heritable Disorders of the Connective Tissue

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Pectus Excavatum and Heritable Disorders of the Connective Tissue Pediatric Reports 2013; volume 5:e15 Pectus excavatum and neously with growth. At time of puberty, when patients grow rapidly, such deformity often Correspondence: Francesca Tocchioni, Depart - heritable disorders abruptly accelerates, and a mild defect may ment of Pediatric Surgery, Children's Hospital A. of the connective tissue quickly turn into severe. Usually this situation Meyer, viale Pieraccini 22, 50139 Florence, Italy. alarms parents and induces them to seek sur- Tel. +39.055.5662414 - Fax: +39.055.5662400 Francesca Tocchioni,1 Marco Ghionzoli,1 gical consultation despite their pediatrician’s E-mail: [email protected] Antonio Messineo,1 Paolo Romagnoli2 reassurance.8 Surgical repair of PE in most of the cases has a cosmetic indication. Since Key words: pectus excavatum, Marfan syndrome, 1Department of Pediatric Surgery, MASS, fibrillin, fibrillinopathies. most patients with the deformity do not have Children’s Hospital A. Meyer, Florence; other associated symptoms, treatment may not 2Department of Anatomy, Histology Contributions: the authors contributed equally. be strictly needed and will be dependent upon and Forensic Medicine, University of the development of symptoms or lack of self- Conflict of interests: the authors declare no Florence, Florence, Italy acceptance. Although still unclear, physiother- potential conflict of interests. apy in young patients may play a beneficial role slowing the development of the chest wall Received for publication: 14 May 2013. deformity and may possibly correct milder Revision received: 20 June 2013. Abstract forms. The primary goal of surgical repair is to Accepted for publication: 13 August 2013. correct the chest deformity which improves This work is licensed under a Creative Commons Pectus excavatum, the most frequent con- first of all self-acceptance and may ameliorate Attribution NonCommercial 3.0 License (CC BY- genital chest wall deformity, may be rarely patient’s breathing, posture and cardiac func- NC 3.0). observed as a sole deformity or as a sign of an tion. A variety of surgical procedures were underlying connective tissue disorder. To date, developed in order to correct the defect by for- ©Copyright F. Tocchioni et al., 2013 only few studies have described correlations ward repositioning of the sternum. In 1949, Licensee PAGEPress, Italy between this deformity and heritable connec- Ravitch described a repair technique requiring Pediatric Reports 2013; 5:e15 doi:10.4081/pr.2013.e15 tive tissue disorders such as Marfan, Ehlers- subperichondrial resection of all deformed Danlos, Poland, MASS (Mitral valve prolapse, costal cartilages, xiphoid excision and trans- not progressive Aortic enlargement, Skeletal verse sternal osteotomy displacing the ster- and Skin alterations) phenotype among oth- num anteriorly9,10 (Figure 2A). Some decades recovery, a rapid return to normal activities, ers. When concurring with connective tissue later, in 1998, a minimally invasive technique and have excellent results.11 After puberty, the disorder, cardiopulmonary and vascular was developed by Nuss. This procedure flexibility of the chest wall is decreased, involvement may be associated to the thoracic involves placement under thoracoscopic view requiring the insertion of two bars, making the defect. Ruling out the concomitance of pectus of a curved substernal bar which is placed and procedure more difficult. It also takes the excavatum and connective tissue disorders, flipped into the chest acquiring concavity fac- patients longer to recover.8 Long-term results, therefore, may have a direct implication both ing posteriorly in order to push sternum out- however, are superior in grown-up patients, on surgical outcome and long term prognosis. ward (Figure 2B). The bar is then removed particularly for those who have completed their In this review we focused on biological bases after about three years, a period after which growth at the time of bar removal. Since of connective tissue disorders which may be the chest is supposed to have acquired a stable regression or improvement of PE is not related relevant to the pathogenesis of pectus excava- structure.9-11 Nuss technique promptly gained to cartilage and ligament fixation, the ideal tum, portraying surgical and clinical implica- a widespread approval, especially because in a phase for optimal PE correction should be tion of their concurrence. different way from Ravitch procedure, it does around adolescence, when the costal cartilages not produce any visible scar in the anterior are still plastic and flexible.23 In addition to aspect of the chest. To date, several compara- this, since it is not negligible to share the indi- tive studies in order to outline the real benefits cation for surgery among both parents and Introduction of either techniques were published with patient, at our Institution the procedure is car- inconsistent results;10,12-19 a systematic review ried out mainly in adolescents which are able Pectus Excavatum (PE), the most frequent and meta-analysis failed to provide over- to demonstrate a complete awareness of such congenital chest wall deformity, is character- whelming support to either approach, conclud- surgical procedure. ized by anomalous growth of several ribs and ing that the use of validated pain scales or sat- In regards to clinical implications of surgical sternum, which makes the chest hollow isfaction surveys and the quantification of correction, the release of cardiac compression (Figure 1). PE occurs in 1 in 300-1000 live total narcotics would be helpful.20 caused by the sunken chest is one of the most births with a male/female ratio of approxi- Patient age at the time of surgery is impor- significant clinical consequence of surgical mately 4:1 with a tendency to become more tant for both speed of recovery and long-term repair of PE. Previous reports and meta-analy- evident during adolescence.1-4 The causes of results.11 Unlike the more invasive procedures ses, supported by the hypothesis that the PE are still unclear; although a familial predis- such as Ravitch, there is no interference with release of cardiac compression in PE patients position has been observed and nearly half of growth plates when using Nuss procedure.21,22 improves the hemodynamic function, have the patients have relatives with various skele- This evidence supports the fact that the latter been carried out demonstrating that cardiac tal alterations, a direct genetic link has not yet procedure is feasible at any age. function improves after surgical correction of been recognized.5,6 Patients with a non-syn- Concerns have been raised in patients PE.24-26 On the other hand, lung function dromic familial isolated deformity have been younger than 6 years, since there are many improvement after surgical repair of PE is not described as a rare occurrence.7 Progression years of subsequent growth during which the yet generally accepted. In particular, it is still may be particularly evident during adoles- pectus excavatum may recur.8 Some authors uncertain whether the pathophysiologic cence, an information unfamiliar to a lot of agree that the optimal age is 7 to 14 years, deficits in PE are primarily ventilatory or car- pediatricians who erroneously inform younger because, before puberty, the patients’ chests diovascular. Surgical management may patients that this condition will resolve sponta- are still soft and malleable; they show quick increase a patient’s exercise tolerance and [page 58] [Pediatric Reports 2013; 5:e15] Review reduce symptoms because a depressed ster- and composition may play an important role in that the abnormal costal cartilage in children num compresses the right ventricular outflow the aetiology and pathogenesis of PE.36 with PE is unable to resist the stress of the res- tract and this anatomical constraint may pro- Biochemical and immunohistochemical analy- piratory gradient, leading to the formation of duce in turn diminished lung capacity, arising ses have shown abnormalities in the structure funnel chest. Furthermore, the movement of with frequent respiratory tract infection, dysp- such as altered distribution and arrangement diaphragm, a main fetal breathing activity, nea, and pulmonary insufficiency.27,28 The of type-2 collagen in costal cartilage, abnormal might cause retraction of the weak costal car- post-operative cardiovascular and respiratory high levels of zinc and low levels of magne- tilages and make them angled posteriorly so improvements are particularly applicable to sium and calcium plus disturbance of collagen that PE would be present at birth. Unusual patients with severe deformities, because sur- synthesis.5,39 Electron microscopy studies have inspiratory efforts, as in case of crying spells, gery may increase significantly chest volume, revealed degenerated chondrocytes with fat respiratory obstruction or hiccupping, might making space available for lung expansion.29 A droplets and other osmiophilic inclusions not aggravate the effect of inspiratory retraction recent meta-analysis including a total of 2476 better characterized, as well as atypical fibrils on the anterior sixth rib cartilage because of PE patients operated with either techniques, including long-spacing collagen.39 Additional the strong spastic contraction of the showed that although both procedures for the data indicate that PE patients also exhibit dis- correction of PE displayed the same improve- orders in endochondral ossification and alter- ments in pulmonary function within 1 year ations in the metabolism
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