Pectus Excavatum: A Case Study

Pectus Excavatum: A Case Study Uchechi Eunice Okani, DNP, and Peggy Mancuso, PhD ABSTRACT This case study presents the diagnosis and treatment of a child with pectus excavatum (PE), a common congenital abnormality of the anterior chest wall characterized by depression of the lower sternum. This depression ranges in severity from a minor dent to a deep, concave hollow capable of displacing the heart and intrathoracic structures. PE could present as a mild, asymptomatic condition, primarily with cosmetic implications. PE may progress to become a severe pathology that induces both serious physical symptoms and psychosocial problems. Nurse practitioners must implement adequate assessment and care strategies for PE patients to achieve optimal health outcomes. Keywords: Haller index, Nuss procedure, pectus excavatum, Ravitch procedure © 2012 American College of Nurse Practitioners

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ectus excavatum (PE) is a common anterior chest wall disorder that often presents without symptoms in the primary care setting.1 PE occurs in 1 of every 400 births.1-3 At birth and in childhood, PE often presents in a mild and asymptomatic form.4,5 However, the condition could progress in severity and become symptomatic as the child gets older, especially during adolescence.4,5 The advanced practice registered nurse (APRN) in primary care should be equipped with the information necessary for PE recognition and evaluation. The APRN needs to follow the proper sequence of diagnostic strategies to ensure accurate diagnosis and subsequent referral for appropriate treatment. This article provides a basic overview of PE with areas of focus relevant to the primary care APRN. Highlights include physical assessment, evaluation, treatment, patient and family education, referrals, and patient follow-up. CASE STUDY The patient was a 3-month-old Hispanic boy who was brought to a community primary care clinic by his mother. She was worried about a depression on the child’s chest, which she discovered 2 weeks before the www.npjournal.org

visit. The patient’s mother was a young, English-speaking, Hispanic woman who was a reliable informant. The child had no surgeries and had been healthy, requiring no medical treatments. He was not on any medication at the time of visit and had no reported drug allergies. The mother was 23 years old, gravida 2, para 1, term 1, live 1. She had no significant prenatal complications. She went into a spontaneous labor a day before she was scheduled to be induced. She did not smoke, drink alcohol, or use illegal drugs during her pregnancy. The mother had tested positive for Group B streptococcus (GBS) during pregnancy; she received antibiotic treatment for GBS during labor. The abdominal ultrasound performed at 18 weeks of gestation was normal. The amniotic fluid index was within the normal range. The patient’s birth statistics were as follows: 54.6 cm long (96th percentile), 4.28 kg (93rd percentile) (macrosomic), head circumference (HC) 36.2 cm (61st percentile). Apgar score at 1 minute was 7, at 5 minutes was 9 (no records of Apgar score at 10 minutes), and his gestation age was 40 6/7 weeks. The child exhibited no signs of early onset GBS infection (fever, difficulty feeding, irritability, or lethargy) at birth. The newborn’s appearance at birth was that of a vigorous infant, without cyanosis or lethargy. The baby The Journal for Nurse Practitioners - JNP

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Figure 1. Genogram

sucked vigorously and tolerated both breast milk and formula at birth. Breast-feeding was stopped during his second month because the mother reported decreased milk production after contraception initiation. The newborn screen at age 2 weeks indicated normal results. The child’s growth was within normal limits, and he was current with recommended immunizations. His maternal grandmother and paternal grandfather have type 2 diabetes mellitus.Two maternal second cousins have PE (Figure 1). Physical examination revealed a healthy-looking, well-developed, well-nourished, alert, attentive male with no obvious respiratory distress. His vital signs were normal. His height was 64.8 cm (91st percentile), weight 7.51 kg (84th percentile), and head circumference 41.5cm (41st percentile). Inspection of his chest wall revealed mild depression involving inferior portion of sternal body and xiphoid process. Musculoskeletal exam revealed full passive range of motion of both upper and lower limbs, no hypermobile joints, no hip clicks, no abnormalities noted on spine. Cardiovascular, pulmonary, neurological, and gastrointestinal examinations were normal. His skin was warm and dry with no bruises, petechiae, rash, or any abnormal skin lesions. There was no sign of hyperextensible skin. The rest of his physical examination was normal. Based on the deformity of the anterior chest wall assessed during physical examination, the patient was scheduled for a computed tomography (CT) scan to determine the degree of anterior chest wall deformity. The result of the scan revealed a Haller index of 3.2 and compression of the right side of the patient’s heart anteriorly. e40

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The infant was referred to a pediatric cardiologist, where electrocardiography (ECG) and echocardiography (Echo) were performed. The ECG revealed normal sinus rhythm at 153 beats per minute. Echo revealed normal intracardiac anatomy and slight compression of the right ventricle, which was hemodynamically insignificant. RATIONALE FOR ASSESSMENT STRATEGIES Soliciting a thorough history was intended to unmask associated symptoms of PE and to determine the degree of cardiopulmonary effect produced by the pathology. The family history may indicate the presence of possible genetic associations. For example, a history of family members with PE or other connective tissue disorders may suggest a hereditary component. Review of systems is needed to document symptoms, such as activity intolerance, chest pain, shortness of breath, and fatigue, which would suggest cardiopulmonary complications.1,2 A comprehensive physical examination was performed to determine the nature and severity of the anterior chest wall deformity and to investigate the presence of any coexisting disorder. For example, observation of thin, long extremities and the absence of the red reflex on vision screening may raise suspicion for a connective tissue disorder, such as Marfan syndrome.6 Study findings have demonstrated a significant compression of the airways in patients with PE.7 The observation of respiratory difficulties could be suggestive of severe cardiopulmonary insufficiencies from PE. Physical examination is also useful for excluding other disorders, such as osteogenesis imperfecta and Ehlers Danlos syndrome, which often coexist with PE.2 Chest auscultation during physical assessment could detect heart murmurs and other cardiopulmonary dysfunction. Thorough history and physical examination could unveil signs of lateonset GBS infection (fever, cyanosis, feeding difficulties, respiratory difficulties, and lethargy).8 The CT scan of the chest was useful for determining the severity of PE and revealing any compression or anatomic displacement of the heart and other thoracic structures underneath the sternum.1,5 Determining the severity of the PE using CT scan is necessary to establish a baseline for monitoring the disorder. ECG and Echo are useful in revealing the presence of dysrhythmias, mitral valve prolapse, and restrictive ventilatory conditions common in PE.1 In PE patients, the pressure from the depressed sternum on the heart interferes Volume 8, Issue 10, November/December 2012

with normal myocardial function, resulting in lower rightventricular ejection fractions.9 Echocardiography is useful for detecting the different forms of myocardial impairment that may be present.

Figure 2. Pectus Excavatum (Funnel Chest)

OVERVIEW Pathogenesis The etiology of PE is not well understood.1 The characteristics of the deformity resemble those of multifactorial inheritance.1 The following hypotheses have attempted to explain the etiology of PE: • Abnormally short central diaphragmatic tendon5 • Abnormal development of cartilage5 because of the increased incidence of PE in connective tissue disorders, such as osteogenesis imperfecta, Marfan syndrome, and Ehlers Danlos syndrome2 • Overgrowth of the coastal cartilage, resulting in lack of balance between the genes responsible for cartilage growth and those that inhibit cartilage growth2,3 • Overgrowth of the ribs3 • Pressure within the uterus5 Epidemiology PE occurs in 1 of every 400 births worldwide.1-3 PE makes up approximately 90% of abnormalities of the anterior chest wall2 and is 3 to 5 times more prevalent in males than females.1,2 The incidence is lower among black and Hispanic populations.1 CLINICAL PRESENTATION Many cases of PE discovered on physical examination at primary care settings present asymptomatically, especially in early childhood (Figure 2).1 Activity intolerance, chest pain, shortness of breath, frequent respiratory infection, and fatigue are common symptoms reported in severe cases and during adolescence.1,2 Cardiac and pulmonary function tests may reveal the existence of dysrhythmias, mitral valve prolapse, and restrictive ventilatory conditions.1 Computed tomography (CT) may reveal compression or anatomic displacement of the heart.1 Affected individuals may develop shame10 and a poor self-image. They may withdraw from social interactions and activities that will expose their chest deformity (eg, swimming). Study findings reveal that children with PE have more psychosocial problems than children in the general population.10 The psychological impact of PE seems to be more severe among females.1,2 www.npjournal.org

Used with permission from Dr. Keiji Hagiwara, MD.

EVALUATION Patients with PE are evaluated to determine the degree of deformity and determine co-existence of other disorders.2 Chest X-ray (CXR) could be used in evaluating severity of PE because it is less expensive and carries low risk of radiation exposure.11 A CXR may reveal any associated disorder, such as kyphoscoliosis.2 Though studies have demonstrated that a 2-view CXR is very similar to a chest CT scan in accurately evaluating PE severity,11,12 chest CT scan is preferred over CXR in determining the degree of the deformity in moderate to severe PE cases.1,2 The severity of chest deformity is measured by the Haller index, using the CXR or chest CT.1,2 The Haller index is the ratio of lateral diameter of the chest cavity to the anteroposterior diameter, measured at the point of greatest sternal depression.1,2 The Haller index of normal individuals is 2.52 but ranges from 3.2 to 12.7, with a mean of 4.4, among persons with PE.1 Establishing a Haller index early with diagnosis provides a baseline for monitoring the condition. Pulmonary function testing (PFT) is useful for establishing baseline lung function. PFT is indicated in cases The Journal for Nurse Practitioners - JNP

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where symptoms of ventilatory restriction are present.1,2 The severity of the deformity in PE is associated with decreased pulmonary function,13,14 and PFT may be useful in revealing the degree of pulmonary compromise. ECG is indicated when there is evidence of cardiopulmonary restriction or significant degree of heart displacement.1,2 Magnetic resonance index (MRI) is useful in determining PE severity without exposure to radiation.2 In older patients, a stress test may be useful when cardiopulmonary restrictions are suspected.2 Individuals with mild PE and without any indications for immediate surgery should be followed up periodically.2 Closer follow-up (quarterly or biannually, depending on clinician judgment) should be targeted toward the adolescence period because PE symptoms are more likely to present or increase during the ages when growth spurts occur.1,2 MANAGEMENT The approach used to manage PE is determined by the degree of chest wall defect, cardiopulmonary effect, and psychosocial impact.1,2 Surgical Repair There are no strict rules regarding criteria for surgery in PE; however, individuals with PE are commonly considered for surgery when there is a Haller index of 3.25 or greater.15 Other factors considered in proposing surgery include significant cardiopulmonary displacement and dysfunction, obvious recurrence of PE after a previous surgical repair, deep psychosocial disturbances because of physical appearance, progressing severity of the chest deformity, and worsening cardiorespiratory symptoms.1,2 Older methods of surgical repair used for PE were open procedures; these methods have been replaced in recent years because of their associations with a high incidence of morbidity, mortality, postoperative complications, recurrence, and scarring.1,2 Two surgical approaches used in modern treatment of PE are presented here. Highly Modified Ravitch Repair Procedure (HMRR): This open procedure can be used in different types of chest deformities and age groups. HMRR involves resecting the coastal cartilages and performing a sternal osteotomy.4 The chest wall is repaired with an Adkins Strut, a stainless steel bar that supports the sternum posteriorly.1 The procedure involves a longer time in the operating room than the Nuss procedure.4 Rare complications e42

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include wound seromas, pleural effusion, pneumothoraces, migration of the strut, and recurrence of the chest deformity, especially if procedure was performed before the major growth spurt occurred.1 Historically, the recurrence of chest deformity after Ravitch repair was 2% to 20%, but recurrence with the current highly modified methods has not been established.1 Nuss Procedure: This surgical repair method was introduced in 1998.1,4 The repair involves the placement of a convex stainless steel bar through a small thoracic incision. The Nuss procedure is classified as a minimally invasive surgery.1,4 Though the procedure could be performed at any age, success rates are higher if the steel bar is left in place for no less than 3 years and if patient is older than 12 years when the bar is removed.1,4 The preferred age for the Nuss procedure is generally between 12 and 18.16 However, with enhanced strength of the steel bar and the use of potent postoperative pain-relieving medications, patients who undergo the procedure in adulthood may have similar outcomes to those of adolescent patients.15 Possible complications include hemothorax, pneumothorax, pleural effusions, pericarditis, pain, seromas, and wound infection.1 Other complications that may occur after the procedure include allergy to the bar, pain, rash, overcorrection, and displacement of the bar.1 The Nuss procedure has about 95% success rate if precautions are taken in first 2 to 3 months after surgery to protect the chest wall.1 Other Treatments Physical therapy promoting posture and chest wall expansion may be used initially for mild cases of PE. Patients who receive physical therapy should be followed up after about 6 months of therapy to evaluate the results.1 The duration after improvements made with physical therapy or other conservative methods of treatment, such as sternal magnets and sternal suction, has not been determined.2 PATIENT AND FAMILY EDUCATION The patient and the family require proper details regarding the nature of PE to understand the importance of keeping appointments that are necessary for proper evaluation through different stages of the patient’s development. Adequately understanding the condition enables family members to successfully monitor the child for symptoms that may indicate worsening severity or progression. Volume 8, Issue 10, November/December 2012

Parents must understand that PE could progress as the child grows, and not assume that the child will be asymptomatic throughout life. Educating the patient and family about the different treatment strategies, such as surgery, is important. The nature of surgery, its benefits, and possible complications (eg, cardiac injuries, pain, and pneumothorax)15 are crucial information that the patient and family need to make wellinformed decisions. During the first month after surgery, patients are required to avoid heavy lifting, bending at the hip, and slouching.17 Patients are also instructed to keep their child from contact sports for 3 months after surgery and for 1 week after bar removal.17 Proper education will prepare the patient and family to cope with limitations and precautions needed during postoperative period to avoid trauma to the patient’s chest. FOLLOW-UP AND REFERRALS In childhood, the patient without a severe PE disorder who is asymptomatic could be followed-up routinely as the rest of the population. At the onset of adolescent growth spurt, PE patients require more frequent visits to the health care provider, especially as the adolescent growth spurt begins. PE symptoms are more likely to present or worsen during this developmental period.1,2 Initially in infancy and childhood, referral to a pediatric cardiologist may be the only necessary referral required unless the PE is severe. Referral to other specialists, such as pulmonologists, will be determined by the severity of the disorder and the patient’s symptoms. A referral to a surgeon will be based on severity of the disorder, symptoms, psychosocial effect, and the patient’s age. After surgery, the patient is required to follows up with the pediatric surgeon within the first 2 to 3 weeks.17 Frequent follow-up at 3- to 6-month intervals is required with the surgeon in the first 2 years after surgery. Frequent monitoring is recommended to ensure that the patient does not develop any complication, such as anterior protrusion of the pectus bar.17 CASE STUDY CONCLUSION The boy in this case study received the appropriate assessment procedures to ensure an accurate PE diagnosis. His family received anticipatory guidance regarding his care during childhood, and they are committed to ensuring that he will receive needed therapies as he approaches adolescence. Social support services for this www.npjournal.org

young family are in place, and this child continues to be followed by his NP. References 1. Angstman K, Myszkowski M. Pectus excavatum: review of therapeutic measures and case presentation. Clin Pediatr. 2010;49(9):889-892. 2. Mayer OH. 2012. Pectus excavatum: etiology and evaluation. http://www.uptodate.com/contents/pectus-excavatum-etiology-andevaluation?source⫽see_link. Accessed September 12, 2012. 3. Sun-Yi P, Tae-Ho P, Jung-Hwan K, et al. A case of right ventricular dysfunction caused by pectus excavatum. http://www.ncbi.nlm.nih.gov/pmc/ articles/PMC2920464. Accessed September 12, 2012. 4. Conti M. Anesthetic management of acute subcutaneous emphysema and pneumothorax following a Nuss procedure: a case report. AANA J. 2009;77(3):208-211. 5. Mavanur A, Hight D. Pectus excavatum and carinatum: new concepts in the correction of congenital chest wall deformities in the pediatric age group. Conn Med. 2008;72(1):5-11. 6. Prockop DJ, Bateman JF. Heritable disorders of connective tissues. In: Longo DL, Fauci AS, Kasper DL, Hauser SL, Jameson JL, Loscalzo J, eds. Harrison’s Principles of Internal Medicine. New York, NY: McGraw-Hill; 2012: 3204-3214. 7. Kamiyama M, Usui N, Tani G, Nose K, Kimura T, Fukuzawa M. Airway deformation in patients demonstrating pectus excavatum with an improvement after the Nuss procedure. Pediatr Surg Int. 2011;27(1):61-66. 8. Centers for Disease Control and Prevention. Group B Strep (GBS): symptoms, diagnosis, and treatment. http://www.cdc.gov/groupbstrep/about/ symptoms-diagnosis-treatment.html. Accessed February 1, 2012. 9. Saleh R, Finn J, Cooper C, et al. Cardiovascular magnetic resonance in patients with pectus excavatum compared with normal controls. J Cardiovasc Magn Reson. 2010;12:73. 10. Ji Y, Liu W, Cao L, et al. Assessment of psychosocial functioning and its risk factors in children with pectus excavatum. Health Qual Life Outcomes. 2011;9:28. 11. Rattan A, Laor T, Ryckman F, Brody A. Pectus excavatum imaging: enough but not too much. Pediatr Radiol. 2010;40(2):168-172. 12. Khanna G, Jaju A, Don S, Keys T, Hildebolt C. Comparison of Haller index values calculated with chest radiographs versus CT for pectus excavatum evaluation. Pediatr Radiol. 2010; 40(11):1763-1767. 13. Lawson M, Mellins R, Kelly R, et al. Increasing severity of pectus excavatum is associated with reduced pulmonary function. J Pediatr. 2011;159(2):256-261. 14. Shimoyama S, Kobayashi T, Morikawa A, et al. Left displacement of the mediastinum determines the imbalance in the pulmonary vascular bed and lung volume in children with pectus excavatum. Pediatr Surg Int. 2008;24(5):549-553. 15. Becmeur F, Ferreira C, Haecker F, Schneider A, Lacreuse I. Pectus excavatum repair according to Nuss: is it safe to place a retrosternal bar by a transpleural approach, under thoracoscopic vision? J Laparoendosc Adv Surg Tech A. 2011;21(8):757-761. 16. Esteves E, Paiva K, Calcagno-Silva M, Chagas C, Barbosa-Filho H. Treatment of pectus excavatum in patients over 20 years of age. J Laparoendosc Adv Surg Tech A. 2011;21(1):93-96. 17. Hebra A. Pectus excavatum treatment & management. http://emedicine.medscape.com/article/1004953-treatment#showall. Accessed May 20, 2012.

Uchechi Eunice Okani, DNP, MSN, RN, FNP-C, practices as a family nurse practitioner at an outpatient primary care clinic in central Texas and can be reached at [email protected]. Peggy Mancuso, PhD, RN, CNM, is professor and coordinator of the doctor of nursing practice program at Texas Woman’s University College of Nursing in Dallas. In compliance with national ethical guidelines, the authors report no relationships with business or industry that would pose a conflict of interest. 1555-4155/$ see front matter © 2012 American College of Nurse Practitioners http://dx.doi.org/10.1016/j.nurpra.2012.05.021

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