Phoenix Comprehensive Assessment of Pectus Excavatum Symptoms (PCAPES)

Introduction

Pectus excavatum (PE) is a common chest wall deformity in which the sternum and accompanying ribs deviate inward. Compression of the underlying cardiopulmonary structures, especially the right ventricle and its outflow tract, can cause significant symptoms. When the right heart is compressed, there may be an accompanied decrease in stroke volume and cardiac output (1,2). PE can also affect the patient’s ability to exercise secondary to a decreased maximal oxygen consumption (VO₂), oxygen pulse, and diastolic function. Depending on the degree and location of compression, symptoms can vary widely. While being purely cosmetic in one patient, severe proximal compression may restrict inflow to the right heart and mimic a tamponade-like scenario in another (3). Surgical repair of the deformity can provide significant reversal of cardiac effects including increase in right heart cardiac output, right ventricular stroke volume, strain, maximum and predicted rate of VO₂, oxygen pulse, VO₂ at anaerobic threshold, and maximal ventilation deficits (4-8). Quality of life (QoL) publications have documented significant improvement in symptoms after surgical correction (9,10). The psychological impact of the pectus deformity should also not be underestimated. Improvements in self-esteem, social activities (11), social functioning, and a high level of satisfaction following repair of the PE are reported (12).

In 2003, the original Nuss questionnaire was published with 12 questions assessing pre- and postoperative symptoms and QoL as affected by PE (13). This questionnaire has remained the standard for assessment of patients including an adaptation based on the same questions by Krasopoulos et al. for the adult patient population (9). The wide array of symptoms demonstrated by the PE patient population, as well as the age and limited scope of the original Nuss questionnaire, necessitates expansion of current surveys. The aim of this survey was to perform a detailed analysis of PE patients’ symptoms including questions evaluating neurological, cardiovascular, respiratory, gastrointestinal, and psychological symptoms. This publication assesses and validates a new tailored survey tool for comprehensive assessment of symptoms and QoL related to PE patients. This article is presented in accordance with the STROBE reporting checklist (available at https://jtd.amegroups.com/article/view/10.21037/jtd-24-1325/rc).

Methods

Study population

An observational study was designed and approved by the Mayo Clinic Institutional Review Board (No. 23-010389) and individual consent for this retrospective analysis was waived. All patients have been informed that their medical information may be used for research purposes, and they have provided consent for this use. The study was conducted in accordance with the Declaration of Helsinki (as revised in 2013). Patients who presented between October 2020 and September 2021 for evaluation of PE and consultation for surgical repair were included. Patients that didn’t complete the questionnaire or had missing information were excluded. Patients with other medical comorbidities were excluded from the study as these other disease processes could have influenced the outcomes of the survey responses. This included obesity, and cardiopulmonary conditions, except for asthma.

The Phoenix Comprehensive Assessment of Pectus Excavatum Symptoms (PCAPES) survey was developed based on the most common symptoms and complaints encountered by patients seen in the Cardio Pectus Clinic at Mayo Clinic Arizona since its inception in 2006. It was organized into five systems that may be affected by the PE deformity: neurological symptoms (7 questions), cardiovascular symptoms (13 questions), pulmonary symptoms (5 questions), gastrointestinal symptoms (3 questions), and psychosocial symptoms (7 questions). Each section and their corresponding questions can be found in Appendix 1. Each question could have four to five possible answers graded from 0 (not present or positive response) to 3 or 4 (worst response). The highest possible symptom score was 109 and minimum symptom score was 0. All surveys were electronically administered to patients via the patient portal ahead of their appointment and were considered “self-reported”, meaning that the patients read the survey themselves and entered their answers without input from the providers.

After the PCAPES survey development, the first phase (reliability and consistency) of the study was conducted, which consisted of assessing the PCAPES in a small sample through a test-retest reliability study with 2 to 4 weeks between the first and second assessment. This test-retest reliability study was designed to prove the ability of the survey to provide reproducible results and allow further advancement into next study phases.

In the second phase (correlation and validation), all included patients were asked to complete the PCAPES survey along with two other surveys, the modified Nuss Questionnaire (NQ-mA) (9) and the 20-Item Short Form Survey (SF-20) (14), to have a correlation between the PCAPES survey’s results and the results of two established questionnaires. For the PCAPES questionnaire, the lowest value represents the best outcome. As for both the NQ-mA and the SF-20, the highest value represents the best outcome. Therefore, negative correlations means that better (lower) results in the PCAPES will be in alignment with better (higher) results in the other two questionnaires. Moreover, patients in this second phase had at least three objective measurements done at Mayo Clinic Arizona, ensuring uniformity of the test methods amongst patients. Those objective tests were selected from a list of five: echocardiography, chest computed tomography (CT), cardiopulmonary exercise testing (CPET), pulmonary function test (PFT) and autonomic reflex screening (ARS). Achieving those objective investigations allowed an assessment of patients’ condition and to perform a correlation between the PCAPES survey responses and those investigations’ results.

The third and final phase (generalizability and results) of this project was to report in a consistent approach the results of the PCAPES questionnaire in a large cohort of PE patients to objectively describe this population’s symptoms and the associated QoL compromise. Figure 1 summarizes the three phases.

Figure 1 Phases performed to conduct this study. PCAPES, Phoenix Comprehensive Assessment of Pectus Excavatum Symptoms; NQ-mA, modified Nuss questionnaire; SF-20, 20-Item Short Form Survey; CT, computed tomography; PFT, pulmonary function test; CPET, cardiopulmonary exercise testing; ARS, autonomic reflex screening.

Statistical analysis

Correlation coefficients were used to assess the correlation between the answers received on the test-retest study, the correlation between the total scores obtained from the three questionnaires, and finally, the correlation between the scores from each question/section with its corresponding objective investigation. Correlation coefficients were defined as significant if the corresponding P value was less than 0.05, and were graded in the following manner:

• Absence of correlation (0).
• Positive correlation: weak positive correlation (0 to ≤0.2), moderate positive correlation (>0.2 to ≤0.5), moderate-strong positive correlation (>0.5 to ≤0.8), strong positive correlation (>0.8 to 1).
• Negative correlation: weak negative correlation (≥−0.2 to 0), moderate negative correlation (≥−0.5 to <−0.2), moderate-strong negative correlation (≥−0.8 to <−0.5), strong negative correlation (−1 to <−0.8).

For reporting the results of the survey in our PE cohort, categorical variables were described as counts and percentages (n, %). For categorical variables, comparison between independent groups was performed using Chi-squared or Fisher tests. Data were analyzed using SPSS statistics (IBM Corp., Version 28.0, Armonk, NY, USA).

Results

The phases of the study included the following:

Phase 1: test-retest analysis

The first phase included 8 patients, demonstrating a significant correlation between the first and the second responses.

Phase 2: initial validation and correlations with previously validated questionnaires

In the second phase, 53 patients successfully completed the PCAPES survey, the NQ-mA, the SF-20, and the objective measurements, enabling the construction of a correlation analysis between existing questionnaires. Characteristics of patients enrolled in phase 2 are detailed in Table 1. Patients in phase 2 had a median age of 32.0 years [interquartile range (IQR), 25.0, 40.0 years], median Haller index of 4.5 (IQR, 3.3, 5.2), median body mass index (BMI) of 22.6 kg/m² (IQR, 20.6, 24.9 kg/m²) and had a slight male predominance (50.9%).

Correlating the PCAPES questionnaire to the NQ-mA showed a statistically significant moderate correlation at −0.357 (P=0.009). The PCAPES was also correlated with the SF-20 and a statistically significant moderate-strong correlation at −0.564 (P<0.001) was noted.

A section-by-section analysis was performed to correlate body systems related symptoms with the corresponding objective investigations, presented in Table 2, with correlations between individual questions presented in Tables 3-5. The neurological section of the PCAPES correlated with ARS through the total score of the section (correlation at −0.339, P=0.057), though this fell slightly outside the range of statistical significance. The only question within the neurological section of the questionnaire that was significantly correlated with ARS was Question D (Do you experience dizziness when running or performing aerobic type exercise?) with a correlation coefficient of −0.471 (P=0.007).

Correlating the cardiovascular exercise section to CPET came back with a statistically significant correlation; total score of this section correlated with the VO₂ max value (measured in mL/kg/min) (correlation at −0.423, P=0.002). Questions related to ability to exercise (Are you able to exercise?) and (Are you able to keep up with your peers during exercise or work?) had the best performance with the VO₂ max value [correlation at −0.487 (P<0.001) and −0.449 (P=0.001)] respectively. In the pulmonary section, the total score was not significantly associated with total lung capacity (TLC; P=0.51), forced expiratory volume in one second (FEV₁; P=0.82), or forced vital capacity (FVC; P=0.84), nor were any individual questions within this section.

Phase 3: PCAPES questionnaire outcomes

Reaching this third phase of the study, a total of 432 consecutive patients were included and successfully completed the PCAPES. The median age was 30.0 years (IQR, 23.0, 39.9 years) at the time of participation, with 57.8% being males, and the median Haller index was 4.2 (IQR 3.6, 5.4).

The neurological section data showed that more than 50% of patients affirmed the presence of symptoms in five out of seven scenarios asked, with headaches and positional dizziness being most common (Figure 2). Considering a potential maximum score in this section of 22, the median score of this cohort was 6.0 (IQR 3.0, 10.0).

Figure 2 Results of neurological section of questionnaire.

In the cardiovascular exercise section, six out of the seven exercise related questions had at least 70% of the patients reporting some limitations or were completely unable to perform. This includes two questions assessing the inability to keep up with peers and the inability to run or play strenuous sports for long distances/time, in which respondents reported limitations in 86% and 88%, respectively. In only one question related to activities of daily living, most of the patients were able to perform them with no limitations (Figure 3A).

Figure 3 Results of exercise-related (A) and symptoms-related (B) cardiovascular sections of questionnaire.

As for the overall cardiovascular symptoms section, almost 90% of the patients reported chest pain and 66% experienced palpitations. All the other questions had at least 60% of the patients responding positively to the symptom addressed (Figure 3B). For a maximum score in the cardiovascular section of 40 points, the median of our population was 17.0 (IQR 10.0, 24.0).

In the pulmonary section, more than 80% of the respondents admitted experiencing restricted breathing both normally and during exercise (Figure 4). A prior or current diagnosis of asthma was present in 139 (32%) of patients however, only 3 of these patients had PFTs consistent with an asthma diagnosis. Considering a potential maximum score of 15 in this section, the median of our cohort was 5.0 (IQR 3.0, 7.0).

Figure 4 Results of pulmonary section of questionnaire.

The gastrointestinal section revealed that nearly 50% of the participants suffered from some degree of dysphagia. Furthermore, 52% of the respondents have also admitted having shortness of breath after eating meals (Figure 5). Out of a potential maximum score of 9 points for the gastrointestinal section, the median score of our population was 3.0 (IQR 1.0, 4.0).

Figure 5 Results of gastrointestinal section of questionnaire.

The responses for the psychosocial section were noteworthy, being that 80% of patients felt bothered by the overall appearance of their chest and many patients avoided activities where their chest could be visible (68%). Many participants also related mental health issues to their deformity, most notably feelings of depression and anxiety (65% each). In addition, 17% of respondents admitted to having had thoughts of self-harm because of the deformity appearance (Figure 6). For the highest potential score of 23 points for the psychosocial aspect, the median in this study was 11.0 (IQR 7.0, 15.0).

Figure 6 Results of psychosocial section of questionnaire.

A correlation of Haller index to each section of the questionnaire was performed. Haller index showed a weakly positive correlation with the total score of the PCAPES (correlation coefficient 0.160, P<0.001). Worse scores on the cardiovascular portion of the PCAPES were moderately associated with higher Haller indices (correlation coefficient 0.224, P<0.001). No statistically significant correlation was observed between Haller index and the pulmonary (correlation coefficient 0.091, P=0.06), gastrointestinal (correlation coefficient 0.033, P=0.50), or emotional (correlation coefficient −0.050, P=0.31) sections of the questionnaire.

Age and sex analysis

A subanalysis was performed on age and sex to determine any significant differences between males and females and between patients aged 30 years or older (median age of the population) and younger ones.

Patients aged 30 years or older had more frequent severe limitations to exercise according to their responses to most of the cardiovascular exercise questions (A-F, Figure 7A). In all the seven questions in this same section, limitations were consistently of greater severity present in females (P<0.001, for all comparisons) (Figure 7B).

Figure 7 Age (A) and sex (B) analysis for exercise-related cardiovascular questions.

As for the cardiovascular symptoms section, older patients seemed to be more affected than younger counterparts in four out of six questions in this section (Figure 8A). In five of the six questions regarding cardiac symptoms, deficits were more prevalent in females (Figure 8B).

Figure 8 Age (A) and sex (B) analysis for select cardiovascular symptom questions. P<0.001 for all comparisons in (B).

The age analysis for the psychosocial section revealed that psychological limitations were more commonly faced by patients aged ≥30 years. However, positive answers to the question addressing self-harm were more common in younger patients (P=0.046) (Figure 9A). In this section, when sex analysis was conducted, appearance of the deformity had a more negative impact in males. Females however were more likely to feel their pectus related symptoms were dismissed by their physicians (Figure 9B).

Figure 9 Age (A) and sex (B) analysis for psychosocial questions.

Discussion

The pectus deformity affects patients in many ways depending on factors that include degree of severity, location of cardiac compression, age, conditioning, and psychosocial aspects (15-17). Some of the most common symptoms reported in the literature are exertional dyspnea, exercise intolerance, and chest pain (17). These symptoms are common to other medical disease states and a detailed review of patient symptoms and rule out of other potential causes is important. A questionnaire can provide a thorough identification of patients’ symptoms and ongoing issues. A significant score of symptoms provides valuable information to prompt further workup as indicated. Collected data should include not only functional information, but patients’ subjective feelings, and other factors evaluating the impact of PE on social interaction and QoL which may often be missed, overlooked, or even dismissed by physicians. Seventy-five percent of our cohort surveyed felt dismissed by physicians, with older patients and women being more likely to feel this dismissal. PE itself as a diagnosis may also be more difficult in women secondary to breast tissue which can hide the deformity and conceal severity, underscoring the importance of patients’ subjective data instigating the workup (18,19). Proper documentation is also important for pre-and post-surgical follow-up. Without surveys, it is difficult to provide accurate validation of successful PE surgery. Given that the NQ-mA and the SF-20 questionnaire are nearly three decades old, and the latter not specific to PE, respectively, an updated, validated PE symptom survey is needed to quantify the patient experience. Also, clinically, a questionnaire may ideally help guide referral of patients for further testing.

Given that the PCAPES is a novel survey tool, a comparison to previously validated surveys used to gauge severity of a patient’s PE was performed first. It was found that moderate and moderate-strong correlations were observed for the NQ-mA and the SF-20 questionnaires, respectively. The PCAPES would not be expected to correlate perfectly with these previous questionnaires given the inclusion of discrete categories and more detailed PE-related questions. However, the strength of these correlations portend confidence in the PCAPES to accurately measure the severity of pectus alongside previously validated survey tools widely used in the clinical landscape.

The optimal survey would allow correlation between subjective symptom questions and objective forms of measurement and testing, which was evaluated in the second phase of this study. The cardiovascular portion of the PCAPES had a statistically significant moderate correlation with the VO₂ max parameter of CPET (Table 2). Thus, patients with high scores in the cardiovascular section (higher than 17 points), would be expected to have a corresponding CPET that showed abnormally low oxygen consumption. Questions having the highest correlation with CPET testing were related to the ability to do short and long-distance exercise and to keep up with peers. A higher score on these would be expected to correlate with abnormal CPET results and cardiovascular limitations even if the overall section score is not high.

Similarly, high scores in the neurologic section may warrant an ARS test to evaluate for postural orthostatic tachycardia and rule out a source of autonomic dysfunction. Not all the questions in the neurological section are related to positional changes. However, the question “Do you experience dizziness while running or performing aerobic type exercise” showed a statistically significant moderate correlation with positive ARS testing. Though the overall neurologic portion of the PCAPES was not statistically significantly correlated with ARS testing, this P value approached significance (correlation coefficient −0.339, P=0.057). Given the relatively small sample size of 32 patients who completed their ARS testing within Mayo Clinic Arizona, this may explain the inability to achieve statistical significance. A significantly elevated symptom score, particularly in the cardiovascular and neurologic sections, accurately captures a patient’s perceived disease severity and may serve as a screening tool to guide for prompting further testing.

As Haller index is the major objective measurement which assesses the severity of PE, this study also sought to correlate Haller indices of patients enrolled with this study to the total and sections score of the PCAPES. Haller index was found to have a statistically significant weak correlation with the total score of the survey, and moderate correlation with the cardiovascular portion of the survey. The relationship between the severity of the deformity and physiological and symptomatic consequences of PE is still under debate and our results are not strong enough to make definitive conclusions in this regard, considering the weak nature of the correlation between Haller index and referred symptoms.

In the final survey cohort of 432 patients, a comprehensive assessment of symptoms was performed. Chest pain was common in most patients (88.0%). Costochondritis and musculoskeletal pain from altered chest wall mechanics are thought to be the cause. Although some of the referred pain patterns described mimic those of a myocardial infarction, no evidence of this has been shown to be related to ischemia (20) despite some electrocardiogram (EKG) findings of ST segment elevation (21). Positional dizziness was prevalent in the PE population (standing: 67%, biking/hiking: 59%; running/aerobics: 61%) (Figure 2). Dizziness seen in PE patients may be secondary to a decreased stroke volume from right heart compression which can worsen in the sitting and leaning forward positions (22).

An overwhelming majority of patients confirmed varying degrees of exercise intolerance as well as cardiovascular symptoms even when sitting or at rest (Figure 3A). Some limitation to the ability to perform exercise was reported by 81% of patients and 86% had difficulty keeping up with their peers. This is nearly 25% higher than what has been reported by other publications with a younger age group (20,23,24). A loss of endurance was reported by 83%. This may be in part due to compression on the right heart limiting stroke volume and therefore the heart’s ability to increase cardiac output for exercise, reported in previous investigations (2,5-7,25). The perceived limitations are documentable, and several large studies have shown improved exercise parameters after surgery (1,4,8,26). In a study of 392 PE patients with CPET, abnormal VO₂ results were present in 68%; of 130 that have undergone Nuss repair, post-repair testing showed significant improvement in cardiopulmonary outcomes (4). Ideally, this study would have had correlation with a validated symptoms survey. Our median patient score was 17 in the cardiovascular section, however in assessing patient’s cardiovascular symptoms, high scores present in questions pertaining to ability to exercise and keep up with their peers should prompt further investigation and cardiopulmonary testing even if overall section score is not high.

A vast majority of patients reported respiratory restrictions including difficulty “catching” their breath exercising and taking a deep breath with normal activity, and some were diagnosed with asthma, the vast majority without confirmatory diagnostic testing. Only 3 of the 139 patients with prior asthma diagnoses had PFTs consistent with asthma. Other publications have reported asthma in their cohorts from 11–29%, likely with similar findings although not stated (12,27). Gastrointestinal complaints were less common but still significant with some degree of intermittent dysphagia reported in 48%. This can be in part explained by the pectus deformity compressing the heart backwards into the esophagus. The location of the stomach also lends itself to some symptoms in very low, severe PE defects. When the stomach is over distended, it can push upward into the diaphragm and decrease the already tight intrathoracic dimensions. This may manifest as early satiety or post-prandial dyspnea in a select group of patients. A high score in the gastrointestinal section may be indicative of causes unrelated to pectus which may need to be investigated. If other investigations are negative, the PE may be contributing.

Psychosocial symptoms dominated in our cohort. The cohort of older patients (≥30 years) reported what appeared to be a greater psychosocial burden with the appearance of their deformity (Figure 9A). There have been several publications documenting psychological and physical impact in children and adolescents, but few reports expand on adults (9,28). Cosmetic satisfaction after surgical repair may also be lower in older patients (9,12). Appearance weighed heavily in the overall cohort with 80% bothered by the looks of their chest and fatigue (88%), depression (65%), and anxiety (65%) commonly attributed to the deformity. The psychosocial aspects of the deformity cannot be discounted and the 17% of patients reporting that they had strong enough emotions that they had considered “hurting themselves or wished themselves dead because of how their chest looked” reflects a concerning statistic.

In our age and sex analysis, severe cardiovascular limitations were more prevalent in older patients and females. Most patients (86%) noted progression of symptoms with aging. A little over half these patients reported this to occur in adulthood [26%: 18–29 years; 24%: late adulthood (>29 years)]. Kragten et al. reported also on 42 symptomatic seniors (≥50 years) with PE. They found that in 45% “serious and sometimes invalidating complaints” did not start until the 4^th or 5^th decade of life (29). All of their patients that underwent surgery for their PE reported substantial or complete resolution of the symptoms. What causes symptoms to worsen is unknown, but one theory is that the chest wall causes increasing right heart pressure when it becomes more rigid as cartilage calcifies and stiffens (29-31).

This novel survey sets the stage for a planned valuable longitudinal comparative study, allowing the comparison of patients’ symptoms preoperatively to postoperative patients’ outcomes and testing. This is particularly crucial given the wide range of patient ages and the large sample size.

The limitations of this study include its retrospective nature, potential selection bias, and reliance on a single surgeon’s expertise at a high-volume institution. In addition, survey responses are susceptible to recall bias, which can potentially affect the accuracy and validity of the findings. As a center that is highly specialized in managing adult patients, our cohort lacked patients of ages below 11 years. Hence, additional considerations regarding age-appropriate language and symptom descriptions may be necessary to ensure the effectiveness of this survey in pediatrics. Our primary goal was for this survey to be a tool for surgeons to comprehensively assess pectus patients and guide them toward more informed management decisions. Nonetheless, a control group would have been able to reflect on the specificity of this survey when used by any patient.

Conclusions

The PCAPES survey is a comprehensive assessment tool to measure the symptoms and QoL of PE patients. The proper understanding of patients’ symptoms facilitates informed decision-making for guiding further clinical decision making, including testing and future corrective surgeries, ultimately enhancing the quality of patient care.

Acknowledgments

Funding: None.

Footnote

Reporting Checklist: The authors have completed the STROBE reporting checklist. Available at https://jtd.amegroups.com/article/view/10.21037/jtd-24-1325/rc

Data Sharing Statement: Available at https://jtd.amegroups.com/article/view/10.21037/jtd-24-1325/dss

Peer Review File: Available at https://jtd.amegroups.com/article/view/10.21037/jtd-24-1325/prf

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://jtd.amegroups.com/article/view/10.21037/jtd-24-1325/coif). D.E.J. serves as an unpaid editorial board member of Journal of Thoracic Disease from February 2023 to January 2025. D.E.J. reports that she is a consultant with IP/royalty rights under Mayo Clinic Ventures with Zimmer Biomet, Inc. and speaker for Atricure, Inc. and no support of the manuscript was provided by the entities listed; Zimmer Biomet does manufacture the Nuss Implants used at Mayo Clinic Arizona for repair of pectus excavatum, and Atricure, Inc. manufactures the cryoablation device used for cryoablation of intercostal nerves. The other authors have no conflicts of interest to declare.

Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. The study was conducted in accordance with the Declaration of Helsinki (as revised in 2013). The study was approved by the Mayo Clinic Institutional Review Board (No. 23-010389) and individual consent for this retrospective analysis was waived. All patients have been informed that their medical information may be used for research purposes, and they have provided consent for this use.

Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.

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