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 of acid mucopolysac- after the procedure, Nuss technique showed charides.5,40 Vacuolisation, polymorphism and an additional enhancement in pulmonary nuclear pyknosis, along with higher cell num- function after bar removal.23 In any case, there ber density, more variable cellular distribution, is still a need for further large-scale prospec- and more frequent myxoid matrix degenera- tive trials and meta-analyses to better assess tion with focal necrosis occur which may the extent of the beneficial effects of PE cor- reflect increased growth and decreased struc- rection on pulmonary function. tural integrity in the presence of additional PE may be frequently associated with herita- mechanical stress in PE patients and, to a cer- 36 ble disorders of the connective tissue, such as tain extent, premature cartilage ageing. All MFS, Ehlers-Danlos, Poland, Mitral valve pro- the aforementioned alterations certainly indi- cate an abnormality in connective tissue biolo- lapse or MASS syndromes.30-32 Roughly half of gy which affects, among others, the ribs and the patients with MFS have a concurring sternum and which may contribute to the PE.30,33-35 However, apart from limited reports development of PE.41 Feng et al. have analysed on MFS,30,33-35 Ehlers-Danlos,33 and MASS phe- the biomechanical properties of costal carti- notype,2 to date only few studies have Figure 1. Chest picture of an adolescent lage and showed that the biomechanical stabil- affected by a moderate/severe form of pec- described correlations between PE and con- ity of costal cartilage in children with PE is tus excavatum. Written consent was nective tissue disorders. impaired in response to tension, compression, obtained from the patient and the patient's parents for publication of this image. and bending. Those authors have proposed

Aetiopathogenesis of Pectus Excavatum

Many hypotheses have been proposed to explain the pathogenesis of PE, such as intrauterine compression, rickets, pulmonary restriction, diaphragm alterations resulting in posterior traction on the sternum, and primary failure of osteogenesis or chondrogenesis.5 The prevailing hypothesis has long been over- growth of costal cartilage, further intensified during growth spurts, which pushes the ster- nal body inward.36,37 This theory was firstly introduced by Sweet in 1944 and many sur- geons supported this theory subsequently,37 as none reported about the length of costal carti- lage until Nakaoka.38 Nakaoka et al. measured costal cartilage length in PE patients and healthy controls from reconstructed images of three-dimensional computed tomography, where costal cartilage in PE patients resulted to be not any longer than in healthy controls.38 Several studies have then focused on histology Figure 2. Two surgical techniques are described. The first one, popularized by Ravitch and biochemistry of costal cartilage, albeit the (A), entails an anterior approach through which costal cartilages are removed and the results to date remain still inconclusive. sternum detached. The latter, proposed by Nuss (B) consists in the insertion of one or Collagen type II is a major structural compo- two concave steel bars into the chest, underneath the sternum. The bar is then flipped to nent of rib cartilage, therefore its metabolism a convex position so as to push outward on the sternum, correcting the deformity.

[Pediatric Reports 2013; 5:e15] [page 59] Review

48,49 diaphragm, and might induce or aggravate the matrix and provides context dependent modu- (TGFβ) signalling pathway. FBNs consti- deformity.41 This hypothesis is supported by lation of TGF and bone morphogenetic protein tute the major backbone of multifunctional the fact that the PE is more frequent in chil- (BMP) signalling, which in turn regulate microfibrils in elastic and non-elastic extra- dren with respiratory obstruction.41,42 Lastly, a matrix formation and remodeling.48 FBN1 is a cellular matrices. FBN1 mutations have been recent study on 34 families provided evidence 230-Kb gene containing 65 exons, situated on shown to increase the susceptibility of FBN1 that PE can be an inherited disorder. Although chromosome 15q21. More than 1750 muta- to proteolysis in vitro leading to fragmentation some families demonstrated mendelian inher- tions in FBN1 gene 1 are registered in the of microfibrils.48 Fragmentation and disorgan- itance, most cases appeared to have multifac- Universal Marfan Database (UMD)-FBN1 for ization of the elastic fibres in the aortic media torial genetic background. It is reported that in MFS and its associated disorders. These layer is a histological marker of MFS, known families of individuals affected by PE there are include point mutations, large and small dele- as medial degeneration where the properties relatives which have connective tissue disease tions, insertions, missense and splice muta- of microfibrils are often compromised because traits, suggesting that PE may be due, in part, tions. Premature termination codon (PTC) of their aberrant folding and assembly.48 to some deficit in connective tissue disorders- and in-frame mutations are two major muta- Recent findings suggest that proteolysis due related genes such as FBN, collagen, and TGF.5 tion categories in FBN1.48,49 FBN1 mutations to increased metalloproteinase (MMP) activi- have been associated with different clinical ty, and consequent fragmentation of microfib- phenotypes: MFS, MASS phenotype, ectopia rils in tissues of MFS patients may also con- lentis syndrome, mitral valve prolapse syn- tribute to the pathogenesis of this disorder. Heritable disorders of connec- drome, Shprintzen-Goldberg syndrome and Therefore, FBN1 fragments may regulate tive tissue Loeys-Dietz syndrome.50,51 MFS is a systemic MMP-1 expression, and MMPs dysregulation autosomal dominant connective tissue disor- caused by fibrillin fragmentation may con- Heritable disorders of connective tissue der caused by several mutations in the gene tribute to the development of MFS. Further (HDCTs) comprise a group of genetic disor- encoding the glycoprotein FBN1. MFS has an findings also support an interaction between ders affecting proteins of connective tissue incidence of 2-3 cases in 10,000,30,33 whilst PE altered extracellular matrix and aberrant TGF matrix, such as collagens, proteoglycans, is present in two thirds of patients with signalling in MFS pathogenesis.48 An excessive elastins, fibrillins and laminins.43,44 HDCTs MFS.30,33-35 MFS clinical manifestations vary TGF signalling characterizes the progression are described in Berlin International Nosology in range and severity and may involve several of aortic aneurysm in mouse models of MFS, (1986) which defines several disorders such organs:51,52 cardiovascular diseases (aortic possibly because FBN1 mutations promote as MFS, MASS phenotype among others dilatation and dissection) are the major cause abnormal Smad signalling by impairing the (Stickler syndrome, Ehlers-Danlos syndrome, of morbidity and mortality.53,54 First in 1989, sequestration of latent TGF complexes into the Familial Articular Hypermobility syndrome, Glesby proposed the acronym MASS to define a extracellular matrix.48,59 Although molecular Skeletal Dysplasias with predominant joint group with concurrence of clinical features testing for FBN1 mutations is usually available laxity, Cutis Laxa, Pseudoxanthoma such as mitral valve prolapse,55 not progres- at present, the diagnosis of MFS cannot rely Elasticum, Epidermo lysis Bullosa, HDCTs sec- sive aortic enlargement, skeletal and skin only on the demonstration of a gene muta- ondary to metabolic defects, copper transport alterations. MASS belongs to connective tis- tion,53,60 because of the large clinical variabili- disorders, Osteogenesis Imperfecta, miscella- sue disorders characterized by slight, general- ty and genetic heterogeneity. This implies that neous HDCTs).45 HDCTs generally result from ized laxity. In patients with MASS phenotype, MFS still remains a clinical diagnosis and single gene mutations and the patterns of aortic root diameter may be at the upper lim- depends on a combination of major and minor inheritance may be autosomal dominant, its of normal for body size, but there is no doc- signs as defined by Ghent criteria proposed in autosomal recessive or X-linked.46 Abnormal umented progression to aneurysm or predis- 1996 (Table 2).32,53,61,62 Among these criteria, a folding and aggregation of the matrix macro- position to dissection and the finding is of lim- severe PE which necessitates a surgical repair, molecules are caused by incorporation of one ited clinical value;32,51,53,55,56 these patients do for example, is a major one for MFS diagno- or more mutant polypeptides. Consequently, not suffer from ectopia lentis (Table 1).32,51,56 sis.30,60 More recently, in 2010, Ghent criteria mutations which cause synthesis of struc- MASS is described as an autosomal dominant were revised and major changes were intro- turally altered polypeptide chains usually pro- disease and is caused by mutations in the duced.56 More importance was given to two car- duce more severe phenotypes than heterozy- FBN1 gene,32,57,58 which encodes the protein dinal features: aortic dilatation and ectopia gous null alleles.45 Fibrillin (FBN) proteins are fibrillin 1 (FBN1) and appears to be common- lentis, which are now considered sufficient for the major components of extracellular ly concurrent with PE.2 The prominent diagnosis when concomitant. A more promi- microfibrils found in many connective tissues, hypotheses on the pathogenesis of MFS, the nent role was assigned to molecular genetic elastic and non-elastic tissues.47 There are most studied fibrillinopathy, focused both on testing of FBN1 and other relevant genes (e.g. three human fibrillins, fibrillin-1, -2 and -3, the structural weakness of the tissues TGFBR1, TGFBR2), whilst other less specific which are encoded by different genes.48 FBN1 imposed by microfibrillar deficiency and features (like recurrent or incisional hernia, and FBN2 are well studied and mutations in upregulation of Transforming Growth Factor- apical blebs) were removed or considered less these proteins cause a number of fib- β rillinopathies including MFS and congenital arachnodactily, respectively. FBN3 has been discovered more recently and is less well char- acterized. FBN1, the main component of the Table 1. Diagnostic criteria for the MASS (Mitral valve prolapse, not progressive Aortic microfibrils which together with elastin form enlargement, Skeletal and Skin alterations) phenotype. elastic fibres, is expressed throughout life, 1 Mitral valve prolapse whereas FBN2 and FBN3 are thought to be pri- 2 Borderline and non-progressive aortic enlargement marily present during development.47 FBN1 3 Not specific skeletal alterations (pectus excavatum, long limbs) serves two key physiological functions: it par- ticipates to the assembly of specialized, struc- 4 Not specific skin alterations (striae atrophicae) turally relevant fibres within the extracellular 5 Myopia (non ectopia lentis)

[page 60] [Pediatric Reports 2013; 5:e15] Review influential in the diagnostic evaluation. The connective tissue disorder. revised criteria were simplified in order to Discussion A few studies have addressed the surgical facilitate a prompt diagnosis, providing specific outcome of patients upon operation for the cor- recommendations for patients counseling and As previously reported, biochemical and rection of PE with or without associated con- follow-up.56,63 Authors which applied the histopathological studies in PE patients have nective tissue disorder. In a comparison between seven children affected by PE and revised Ghent criteria to a large cohort of MFS shown abnormalities in the costal carti- lage,5,36,39 and this presumably implies that MFS and 38 ones affected by sole deformity, patients, concluded that the definition of aortic nearly the totality of patients affected by PE the authors claimed that they had to use a sub- root dilatation based on Z-score alone may displays various degrees of connective tissue sternal strut to ensure a satisfactory correction underestimate aortic involvement, represent- laxity. Although PE is seen in individuals with of the defect especially in MFS patients.35 ing a pitfall in the revised criteria. Therefore, a primary connective tissue defects, it is likely These results have been confirmed also by re-evaluation of the aortic involvement criteria that the outcome of these patients, when sur- other authors.30,34 In a report of 28 patients in adult patients with suspected MFS diagnosis gically treated, differs from those who have with MFS and 30 patients with a supposed sole may be warranted.63 only chest deformity without signs of heritable deformity it was concluded that PE may be a

Table 2 . Diagnostic criteria for the Marfan Syndrome (Ghent Nosology). Skeletal system Major criteria Pectus carinatum (at least 4 of the following Pectus excavatum, needing surgery constitutes a major criterion) Reduced upper to lower segment ratio or arm span to height ratio >1.05 Positive wrist and thumb signs Scoliosis >20° or spondylolisthesis Reduced extension of the elbows (>170°) Medial displacement of the medial malleolus causing pes planus Protrusio acetabuli of any degree, ascertained on x-ray Minor criteria Pectus excavatum of moderate severity Joint hypermobility Facial appearance (dolicocephaly, malar hypoplasia, enophthalmos, retrognathia, down-slanting palpebral fissures) Highly arched palate with dental crowding Ocular system Major criteria Ectopia lentis Minor criteria Abnormally flat cornea (as measured by keratometry) Increased axial length of globe (as measured by ultrasound) Cardiovascular Major criteria Dilatation of the ascending aorta with or without aortic system regurgitation and involving at least the sinuses of Valsalva Dissection of the ascending aorta Minor criteria Mitral valve prolapse with or without mitral valve regurgitation Dilatation of main pulmonary artery, in the absence of valvular or peripheral pulmonary stenosis or any other obvious cause, under the age of 40 years Calcification of the mitral annulus below the age of 40 years Dilatation or dissection of the descending thoracic or abdominal aorta below the age of 50 years Pulmonary system Major criterion None Minor criterion Spontaneous pneumothorax Apical blebs (ascertained by chest radiography) Skin and integument Major criteria Lumbosacral dural ectasia ascertained by CT or MRI Minor criteria Striae atrophicae (stretch marks) not associated with marked weight change, pregnancy or repetitive stress Recurrent or incisional herniae Family/genetic history Major criteria Having a parent, child, or sibling who meets the diagnostic criteria listed below independently Presence of a mutation in FBN1 known to cause the Marfan syndrome Presence of a haplotype around FBN1, inherited by descent, known to be associated with unequivocally diagnosed Marfan syndrome in the family Minor criteria None Requirement Index case Major criteria in at least two different organ systems and involvement of a third for diagnosis of organ system Marfan syndrome Family member Presence of a major criterion in the family history and one major criterion in an organ system and involvement of a second organ system To assess involvement of the skeletal system, at least two major criteria, or one major criterion plus two minor criteria must be present. To assess involvement of the ocular system, the major criterion or at least two minor criteria must be present. To assess involvement of the cardiovascular system, one major or minor criterion must be present. To assess involvement of the pulmonary system, one of the minor criteria must be present. To assess involvement of the skin and integument, the major criterion must be present.

[Pediatric Reports 2013; 5:e15] [page 61] Review part of a heritable disorder of connective tissue They concluded that many different, inherited tum: a review and update of therapy and such as MFS and that in patients with MFS or collagen disorders have a poorly defined car- treatment recommendations. J Am Board other connective tissue diseases surgical diovascular risk, therefore future studies are Fam Med 2010;23:230-9. repair should be deferred, whether possible, required to establish long-term cardiovascular 7. Kotzot D, Schwabegger AH. Etiology of until skeletal maturity is nearly established; prognosis. Therefore it is likely that most chest wall deformities-a genetic review for moreover, for the cases subjected to surgical patients with an inherited connective tissue the treating physician. J Pediatr Surg correction the use of an internal stabilization disorder do not progress towards aortic 2009;44:2004-11. is strongly recommended.64 A study on a large aneurysm or dissection, but it still remains 8. Goretsky MJ, Kelly RE Jr., Croitoru D, Nuss series of patients was then published in 2002, unclear how to identify those at increased risk, D. Chest wall anomalies: pectus excava- regarding 303 patients affected by PE who especially for patients who do not have the tum and pectus carinatum. Adolesc Med underwent minimally invasive surgical tech- stigmata of MFS. To sort out this issue, larger Clin 2004;15:455-71. nique according to Nuss.11 The series con- prospective cohorts of patients with detailed 9. Nasr A, Fecteau A, Wales PW. Comparison tained 16 individuals with MFS and 49 with a clinical and echocardiographic follow-up over of the Nuss and the Ravitch procedure for diagnosis of nonspecific connective tissue dis- years are warranted. pectus excavatum repair: a meta-analysis. ease.65 Among the reported complications, late It seems clear that several patients affected J Pediatr Surg 2010;45:880-6. failure of the procedure occurred in four by PE display a typical association with con- 10. Antonoff MB, Erickson AE, Hess DJ, et al. patients, three of which had MFS. nective tissue disorders, which may span from When patients choose: comparison of Furthermore, four other patients as a conse- mild form like simple laxity without morbidity Nuss, Ravitch, and Leonard procedures for quence of the surgical procedure developed associated, to more severe forms such as MFS primary repair of pectus excavatum. J overcorrection, three had concurrent MFS and and Ehlers-Danlos syndrome. Yet at present, Pediatr Surg 2009;44:1113-9. one had Ehlers-Danlos syndrome. for most of them there is no information on the 11. Nuss D, Kelly RE Jr., Croitoru DP, Katz ME. Nonetheless, in the majority of MFS patients, risk of complications or about the long-term A 10-year review of a minimally invasive the long-term result was reputed excellent.65 In prognosis, therefore strategies for clinical technique for the correction of pectus another similar study, the authors found that management remain still indefinite, especially excavatum. J Pediatr Surg 1998;33:545-52. the patients with sole PE did not differ from for those patients which undergo a surgical 12. Jo WM, Choi YH, Sohn YS, et al. Surgical those affected by connective tissue diseases operation to correct the deformity. Anyway, treatment for pectus excavatum. J Korean (MFS, Ehlers-Danlos syndrome and nonspecif- when a PE is concurrent with a connective tis- Med Sci 2003;18:360-4. ic connective tissue disease) neither in opera- sue disorder of whatsoever gravity, we reckon 13. Miller KA, Woods RK, Sharp RJ, et al. tion time nor in estimated mean blood loss nor that it is advisable a thorough clinical and Minimally invasive repair of pectus exca- in the number of bars needed to achieve cor- echocardiographic follow-up over time, first of vatum: a single institution’s experience. rection. Moreover there was no statistical dif- all because of the possible worsening of mitral Surgery 2001;130:652-9. ference between the rates of postoperative valve prolapse which is a feature present in 14. Fonkalsrud EW, Beanes S, Hebra A, et al. complications in the two groups.33 Lastly, in many of these patients and secondly to possi- Comparison of minimally invasive and 2010, Redlinger et al.30 studied 3 groups of bly avert the onset of notorious cardiovascular modified Ravitch pectus excavatum repair. patients who underwent surgical repair of PE complications such as aortic dissection, a situ- J Pediatr Surg 2002;37:413-7. and compared the operative and postoperative ation commonly seen in the most severe con- 15. Boehm RA, Muensterer OJ, Till H. results among patients with MFS, those with nectivopathies. Comparing minimally invasive funnel marfanoid features, and all other patients and chest repair versus the conventional tech- concluded that there was no difference in nique: an outcome analysis in children. terms of surgical outcome.30 To date there is Plast Reconstr Surg 2004;114:668-75. no report focusing on the surgical outcome of References 16. Inge TH, Owings E, Blewett CJ, et al. patients with MASS phenotype undergoing PE Reduced hospitalization cost for patients surgical correction. 1. Williams AM, Crabbe DC. Pectus deformi- with pectus excavatum treated using min- In regards to aortic aneurysm and dissec- ties of the anterior chest wall. Paediatr imally invasive surgery. Surg Endosc tion, which are considered notorious causes of Respir Rev 2003;4:237-42. 2003;17:1609-13. morbidity and mortality in MFS patients,50,58 2. Tocchioni F, Ghionzoli M, Pepe G, 17. Lam MW, Klassen AF, Montgomery CJ, et there are scarce findings on the evolution of Messineo A. Pectus Excavatum and MASS al. Quality-of-life outcomes after surgical aortic diameter over time in patients with fea- phenotype: an unknown association. J correction of pectus excavatum: a compar- tures of connective tissue disorder without full Laparoendosc Adv Surg Tech A 2012;22: ison of the Ravitch and Nuss procedures. J blown MFS. Mortensen et al. performed an 508-13. Pediatr Surg 2008;43:819-25. observational study to assess the evolution of 3. Cartoski MJ, Nuss D, Goretsky MJ, et al. 18. Molik KA, Engum SA, Rescorla FJ, et al. aortic disease in 78 patients in which MFS was Classification of the dysmorphology of pec- Pectus excavatum repair: experience with ruled out, measuring the augmentation index tus excavatum. J Pediatr Surg 2006;41: standard and minimal invasive tech- at a heart rate of 75 beats per minute and cen- 1573-81. niques. J Pediatr Surg 2001;36:324-8. tral pulse pressure (CPP) by applanation 4. Rattan AS, Laor T, Ryckman FC, Brody AS. 19. Kelly RE Jr., Cash TF, Shamberger RC, et tonometry (APT). During twenty months after Pectus excavatum imaging: enough but al. Surgical repair of pectus excavatum APT, they observed progression of aortic diam- not too much. Pediatr Radiol 2012;40:168- markedly improves body image and per- eters in 15 patients, and aortic surgery or aor- 72. ceived ability for physical activity: multi- tic dissection in 3 individuals.57 Rybczynski et 5. Creswick HA, Stacey MW, Kelly RE Jr., et al. center study. Pediatrics 2008;122:1218-22. al.60 evaluated prospectively 279 patients with Family study of the inheritance of pectus 20. Nasr A, Fecteau A, Wales PW. Comparison suspected MFS. They confirmed MFS in 138 excavatum. J Pediatr Surg 2006;41:1699- of the Nuss and the Ravitch procedure for individuals and another hereditary disorder of 703. pectus excavatum repair: a meta-analysis. connective tissue in 69 individuals, in 30 of 6. Jaroszewski D, Notrica D, McMahon L, et J Pediatr Surg 2010;45:880-6. which the cardiovascular system was involved. al. Current management of pectus excava- 21. Haller JA Jr., Colombani PM, Humphries

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