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Pectus excavatum: Etiology and evaluation

Official reprint from UpToDate www.uptodate.com 2012 UpToDate

Pec

e ca a

m: E iolog

and e al a ion
Dep Edi o Alison G Hoppin, MD

A ho Oscar H Mayer, MD Disclosures La li e a e e ie e

Sec ion Edi o Gregory Redding, MD

ion 19.3: January 2012 |

Thi

opic la

pda ed: May 25, 2011

INTRODUCTION Pectus excavatum (PE), or "funnel chest", is a deformity of the chest wall characterized by a sternal depression typically beginning over the midportion of the manubrium and progressing inward through the xiphoid process. The clinical significance of PE depends on three issues: Severity of the chest wall defect Cardiopulmonary morbidity Psychosocial impact of the defect, and its appearance on the patient Despite decades of experience with surgical and nonsurgical treatment, and efforts to quantify outcomes in each of these areas, the decision of when and how to treat PE remains controversial. These issues are discussed in a separate topic review. (See "Pectus excavatum: Treatment".) This topic review will discuss the epidemiology, clinical features, and evaluation of PE. The diagnosis and treatment of pectus carinatum and other chest wall deformities are reviewed separately. (See "Pectus carinatum" and "Diseases of the chest wall".) EPIDEMIOLOGY PE accounts for 90 percent of anterior chest wall disorders [1]. The incidence of pectus excavatum is 1 in every 400 to 1000 live births [1,2]. It is three to five times more prevalent in males than females. ETIOLOGY While there is no consensus for what causes PE, there have been a number of hypotheses, ranging from disproportionate muscular force putting abnormal stress and strain on the sternum and costal cartilages, to defective cartilage structure and growth, or combinations thereof. An early theory that PE is caused by abnormal diaphragmatic connections was discarded, because surgical interventions to release the central tendon and substernal ligament in early childhood were not effective [3]. (See "Pectus excavatum: Treatment", section on 'Historical approaches'.) PE is usually sporadic [1], but it has been associated with connective tissue disorders (particularly Marfan syndrome, Ehlers Danlos syndrome, and osteogenesis imperfecta) [4] and neuromuscular disease (eg, spinal muscular atrophy). It also can be seen in a variety of other genetic conditions, including Noonan syndrome, Turner syndrome, and multiple endocrine neoplasia type 2b [5]. (See "Genetics, clinical features, and diagnosis of Marfan syndrome and related disorders".) The increased prevalence of PE in connective tissue disorders suggests the possibility that it is caused by abnormal cartilage development [6]. In particular, some authors have hypothesized that the deformity is caused by abnormalities of cartilage remodeling due to an imbalance between cartilage growth-promoting and growth-inhibiting genes [1]. Genetic contributors to PE seem likely, and familial patterns of inheritance have occasionally been reported [7,8]. Several different genes
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Pectus excavatum: Etiology and evaluation

affecting cartilage growth are associated with syndromic causes of PE (eg, fibrillin1 gene in Marfan syndrome and genes in the RasMAPK pathway in Noonan syndrome). However, no specific genetic triggers for abnormal cartilage growth in nonsyndromic (isolated) PE have been identified [9]. Cartilage samples from patients with pectus excavatum have normal histology [6]. PE may also occur in response to underlying pulmonary conditions. Patients with a repaired congenital diaphragmatic hernia are prone to PE, presumably because the axis of contraction of the diaphragm is more horizontal than vertical, and therefore pulls the lower edge of the sternum inward [6]. Patients with spinal muscular atrophy type 1 are also prone to developing PE, presumably because the chest wall is highly compliant and unable to resist intrapleural pressure variation during respiration; these forces gradually deform the sternum over time. PE also can occur in children with subglottic stenosis and bronchopulmonary dysplasia. (See "Congenital diaphragmatic hernia in the neonate" and "Spinal muscular atrophy".) NATURAL HISTORY Information on the evolution of untreated PE is based upon limited retrospective data and reports of clinical impressions [10-12]. The following observations are generally accepted: About one third of cases of PE present in infancy [6]. Spontaneous regression of PE in infancy is rare [2]. The frequency of spontaneous improvement decreases further after one year of age, and no spontaneous improvement can be expected after six years of age. After 12 years of age, the PE deformity worsens in one-third of patients during the adolescent growth spurt, and remains the same in two-thirds [10,13]. There are no reliable markers to predict progression. As PE worsens, simple symmetrical lesions may progress to more complex asymmetric deformities [13-16]. No debilitating physiologic disabilities or deaths have been attributed to PE in children or young adults [10]. In adults, complaints of exercise intolerance are common; no deaths have been attributed to the isolated deformity. CLINICAL FEATURES Cosmetic concerns Concerns about physical appearance are common among patients with PE who seek medical attention [1,2]. Female patients are more likely to express concern over their appearance than male patients (68 versus 40 percent) [17]. However, there is poor correlation between the severity of PE and concern about appearance [17]. One longitudinal study suggests that cosmetic concerns subside over time: among patients with mild PE who did not undergo surgery, the concern about appearance usually subsided by 18 to 20 years of age [18]. S mptoms Among a large group of patients evaluated for PE, most of whom were in the pediatric age range, the following symptoms were reported [19]: Exertional intolerance 82 percent Chest pain 68 percent Poor endurance 67 percent Shortness of breath 42 percent In a separate study, similar frequencies of these problems were reported in a group of 50 adults with PE [18]. While young children are less likely to display these symptoms, they may develop
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Pectus excavatum: Etiology and evaluation

during adolescence, sometimes in as little as six months [19]. EVALUATION Patients with PE should be evaluated to estimate the severity of the deformity, and whether there are associated anomalies. Patients with moderate or severe PE, or with complaints suggesting cardiorespiratory compromise, should be evaluated by computed tomography (CT) to quantify the severity of PE. They should also undergo pulmonary function testing to assess for restrictive lung disease, and exercise testing to assess for cardiopulmonary limitation. If there is significant displacement of the heart or cardiopulmonary limitation, we suggest performing echocardiography and electrocardiography. (See 'Cardiac Function' below.) For patients not deemed to be candidates for surgical correction after the initial evaluation, it is important to repeat the examination periodically. This is especially important during periods of rapid growth, such as adolescence, because the deformity and associated symptoms may increase markedly [20]. (See 'Natural History' above.) Ph sical e amination Sternal depression The sternal depression can be qualitatively assessed on visual examination (figure 1). The depression can be measured quantitatively using calipers to compare the distance between the point of maximal sternal depression and the spine, with similar measurements laterally in each mid clavicular line [21]. One author suggested that a difference between the two measurements (the depth of depression) of >2.5 cm constitutes a moderate to severe defect [21]. Caliper measurements can also be useful in assessing asymmetry and describing the chest wall contortion [22]. Thoracic abnormalities In addition to the sternal depression, patients with PE often have a narrowed chest wall diameter and a flat, broad, and kyphotic chest [23]. Between 10 and 39 percent of patients with PE also have associated scoliosis, which may be severe [2,6,19,24,25]. Scoliosis may present early or late in the course of pectus excavatum, and it is unclear whether chest wall repair affects the onset or progression of scoliosis. Respiratory function Resting tachypnea has been reported by up to 98 percent of patients and can be more prominent in adolescence [2]. Patients with more severe forms of pectus excavatum are much more likely to have reduced aerobic capacity. Although laryngomalacia has been reported in infants with pectus excavatum, upper or lower respiratory abnormalities are uncommon findings on physical exam [4]. Cardiac examination Abnormalities of the cardiac examination may be seen in patients with associated syndromes (eg, Noonan or Marfan), because these syndromes are associated with cardiovascular anomalies, but are unusual in patients with isolated PE. (See "Genetics, clinical features, and diagnosis of Marfan syndrome and related disorders" and "Causes of short stature", section on 'Noonan syndrome'.) Patients with severe PE can have tachycardia due to a reduced stroke volume, depending on the distortion and displacement of the heart [22]. Functional systolic murmurs are heard in about 18 percent of patients, probably due to compression of the left ventricular outflow tract [2]. Mitral valve prolapse has been reported in 7 to 20 percent of patients with pectus excavatum [2,4]. Imaging Plain radiographs in the anteroposterior and lateral planes have limited value in assessing the pectus defect, but they can be useful in evaluating for coincident kyphoscoliosis or lung disease.
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Pectus excavatum: Etiology and evaluation

CT scan CT scans are useful to accurately determine the severity of the pectus defect and its impact on the lungs, heart, and large vessels [6]. Three-dimensional reconstructions can be performed to assess the defect from a variety of different angles [26]. The pectus severity index (PSI), also known as the Haller index, describes the depth of the pectus defect by comparing the ratio of the lateral diameter of the chest to the distance between the sternum and spine, at the point of maximal depression (figure 2) [27]. A normal chest has a PSI of 2.5 [28]. Among patients referred for surgery based on clinical criteria (ie, without consideration of CT scan results), all patients had a PSI of >3.25, whereas patients with PE who were not referred for surgery had PSI <3.25 [27]. Other protocols have been developed to assess the pectus defect at different levels through the thorax, evaluating asymmetry by comparing the anteroposterior diameter at each mid axillary line to the lateral diameter [29]. Other indices have been proposed to measure thoracic and cardiac distortion in an effort to quantify the severity of PE and define thresholds for surgical intervention (figure 3) [30,31]. Magnetic resonance imaging also has been successfully used for this purpose and has the advantage of avoiding radiation exposure [32]. Pulmonar Function Abnormalities on pulmonary function testing are two to three times less common than subjective pulmonary complaints in patients with PE, and the correlation between the two is weak [18]. Forced vital capacity (FVC) is normal in the vast majority of patients [6,28,3335]. Interestingly, the total lung capacity (TLC), residual volume (RV), and RV/TLC results are more variable [1,34,35]. However, normal pulmonary function tests do not exclude the possibility of cardiopulmonary limitation during exercise. (See 'Exercise Testing' below.) Cardiac Function Patients with PE commonly have cardiac displacement to the left. In one large series of female patients, 68 percent had electrocardiographic evidence of right ventricular strain [36]. Electrocardiographic evidence of right axis deviation and ST segment depression in patients with severe PE usually reflects rotation and compression of the heart rather than an intrinsic myocardial abnormality [2]. Echocardiography has demonstrated subtle right ventricular outflow obstruction and reduced right ventricular systolic function in patients with severe PE [37,38], and these measures improve after surgical treatment [39,40]. (See "Pectus excavatum: Treatment", section on 'Outcomes'.) The cardiac distortion may be associated with conduction abnormalities, such as bundle branch block, which were present in 16 percent of patients in one series [6]. E ercise Testing For detecting cardiopulmonary abnormalities, exercise testing is more sensitive than spirometry or thoracic gas volume measurements performed at rest [1,41]. This may be because exercise testing evaluates the interplay between the cardiac and pulmonary systems. Exercise testing demonstrates mild impairment in some patients with severe PE, and the degree of impairment correlates with the severity of the defect. This exertional limitation is due to cardiovascular dysfunction rather than ventilatory limitation or physical deconditioning, as illustrated by the following studies: In one series, patients with PE exhibited mildly reduced maximum oxygen uptake (VO2max 75 percent of predicted) [28]. The threshold for lactate accumulation was abnormally low, particularly in patients with severe PE (pectus index >4). Total lung capacity, residual volume, and ventilatory reserve volume were normal. In another series, the increase in tidal volume (Vt), Vt/FVC, and respiratory rate during exercise were normal, indicating that exercise was not restricted by the chest wall deformity [35].
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Pectus excavatum: Etiology and evaluation

By contrast, a third series found that the Vt/FVC was lower, and the respiratory rate higher during exercise testing in patients with PE as compared to normal controls, perhaps indicating a higher metabolic cost of breathing in an mechanically inefficient system [42]. SUMMAR AND RECOMMENDATIONS Pectus excavatum (PE), is a deformity of the chest wall characterized by a sternal depression beginning over the midportion of the manubrium and progressing inward toward the xiphoid process. PE is usually sporadic, but it has been associated with connective tissue disorders, such as Marfan syndrome and Ehlers Danlos syndrome, neuromuscular disease, and a variety of other genetic conditions, including Noonan syndrome and Turner syndrome. The pathogenesis of PE and reasons for these associations are not well established. (See 'Etiology' above.) PE can be present at birth, and in some cases may resolve. However, it tends to worsen during the rapid growth of adolescence. (See 'Natural History' above.) Patients with PE typically present with cosmetic concerns, but many patients also report exercise intolerance and shortness of breath. (See 'Clinical features' above.) Evaluation of a patient with moderate or severe PE includes quantification of the sternal depression using measurements from chest CT scanning (known as the pectus severity index, PSI). A typical candidate for surgery usually has a PSI of >3.25. (See 'Imaging' above.) Candidates for surgical intervention should undergo electrocardiography and echocardiography, as well as pulmonary function testing and exercise testing, if available. (See 'Evaluation' above.) Lung volumes are typically normal. (See 'Pulmonary Function' above.) Electrocardiography may demonstrate right axis deviation and ST segment depression, which reflects rotation and compression of the heart. Some patients have conduction abnormalities, such as bundle branch block. Echocardiography may demonstrate subtle right ventricular outflow obstruction and reduced right ventricular systolic function in patients with severe PE. (See 'Cardiac Function' above.) Exercise testing demonstrates mild impairment in many patients with PE. The impairment correlates with the severity of the defect, and is consistent with cardiovascular dysfunction rather than ventilatory limitation or physical deconditioning. (See 'Exercise Testing' above.) Use of UpToDate is subject to the Subscription and License Agreement. REFERENCES 1. Fokin AA, Steuerwald NM, Ahrens WA, Allen KE. Anatomical, histologic, and genetic characteristics of congenital chest wall deformities. Semin Thorac Cardiovasc Surg 2009; 21:44. 2. Fonkalsrud EW. 912 open pectus excavatum repairs: changing trends, lessons learned: one surgeon's experience. World J Surg 2009; 33:180. 3. Lester CW. The Surgical Treatment of Funnel Chest. Ann Surg 1946; 123:1003. 4. Williams AM, Crabbe DC. Pectus deformities of the anterior chest wall. Paediatr Respir Rev 2003; 4:237.
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Pectus excavatum: Etiology and evaluation

GRAPHICS
Pectus e cavatum

Pec e ca m in an adole cen pa ien demon a ing e e e in agina ion of he lo e e n m. The pa ien had ignifican e e ci e in ole ance. Reproduced with permission from:
Chung, EK. Visual Diagnosis in Pediatrics. Philadelphia: Lippincott Williams & Wilkins, 2006. Copyright 2006 Lippincott Williams & Wilkins.

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Pectus excavatum: Etiology and evaluation

Measurement of the pectus severit

inde

Pec e e i inde (PSI) in a no mal che (PSI = 2.0) and in a pa ien i h e e e pec e ca a m (PSI = 3.5). Courtes
of Dr. Oscar H Ma er.

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Pectus excavatum: Etiology and evaluation

Pectus e cavatum cardiac distortion

CT can of he che in a pa ien i h pec e ca a m and ignifican ca diac di o ion ep e en ed a he ca diac comp e ion inde (H/M) and a he ca diac a mme inde (P/M) a he iphoid p oce . Reproduced with permission from:
Haller, JA, Scherer, LR, Turner, CS, et al. Evolving management of pectus excavatum based on a single institutional experience of 664 patients. Ann Surg 1989; 209:578. Copyright 1989 Lippincott Williams & Wilkins.

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Pectus excavatum: Etiology and evaluation

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