Question 1: bacterial tracheitisThe boy described in the vignette has bacterial tracheitis, a complication of a primary viral illness causedby a secondary bacterial infection of the upper airway (excluding the epiglottis). Staphylococcus aureus,Moraxella catarrhalis, nontypeable Haemophilus influenzae, and oral anaerobes all have been implicatedas common causative agents. Mucosal swelling at the cricoid cartilage plus thick purulent secretions (ItemC28A) are responsible for the respiratory distress. The affected child typically has a high fever, appearstoxic, and has a "brassy" cough. Treatment of bacterial tracheitis includes broad-spectrum antimicrobialagents that have antistaphylococcal coverage and may require placement of an artificial airway until theairway swelling and copious purulent secretions improve.The patient who has epiglottitis usually cannot lay flat, drools, and has dysphagia. In parts of the worldwhere the H influenzae type b vaccine is used, bacterial tracheitis occurs more frequently than epiglottitis.Most patients who have laryngotracheobronchitis improve with the administration of racemic epinephrine,are not highly febrile or toxic-appearing, and are younger than 3 years of age. Although acute bronchitiscommonly is preceded by a viral upper respiratory tract infection, it is characterized by frequent dryhacking cough in an otherwise nontoxic-appearing patient. Similarly, patients who have aspirated foreignbodies usually are not febrile and toxic-appearing.Question 48immediate removal is recommended for foreign bodies retained >24 hoursEach year, more than 90,000 cases of ingested foreign bodies are reported to poison control centers in theUnited States. Most of the foreign bodies are coins, and most pass into the lower gastrointestinal tractwithout incident. Approximately 30% of ingested foreign bodies remain in the esophagus for hours todays, and many of these require removal. Although less than 1% of esophageal foreign bodies causesignificant morbidity, complications have been reported, including esophageal erosion and perforation,esophageal stenosis, aortoesophageal or tracheoesophageal fistula, and death (Item C48A). Because mostof the complications have been noted when foreign bodies are retained for more than 24 hours, currentguidelines recommend removal of most foreign bodies within this time frame. Button batteries or sharpobjects should be removed immediately, as should any foreign body in a significantly symptomatic patient(eg, respiratory distress, persistent retching, pain). Extra caution should be used in identifying andremoving button batteries because of the potential for erosion due to corrosive electrolytic effects. Insome cases, button batteries may be difficult to distinguish from coins.Most children who have retained esophageal foreign bodies are symptomatic, although the symptomsoften are nonspecific, and in 40% of cases, there is no history of ingestion. Common symptoms includedrooling, chest pain, gagging, dysphagia, and refusal to eat as well as cough, stridor, or wheezing. A highclinical index of suspicion should prompt appropriate evaluation of such patients that includesanteroposterior and lateral radiographs (Item C48B) of the neck and chest and an upright abdominal film.The use of metal detectors for localizing metallic ingested foreign bodies has been reported and can be ofuse in identifying those that are below the diaphragm and, therefore, require no further intervention.Esophageal foreign bodies most commonly are retained at the thoracic inlet, at the level of the aortic arch,and at the lower esophageal junction. Of these three locations, the thoracic inlet is the site in more than60% of cases.Spontaneous passage has been reported in about one third of esophageal foreign bodies. Objects retainedat the lower esophageal sphincter are most likely to pass within 24 hours of ingestion.Question 4- C. Vocal Cord dysfunctionThe teenager described in the vignette has signs and symptoms consistent with vocal cord dysfunction(VCD), a condition that can both mimic and coexist with asthma. In contrast to an asthma exacerbation,the key features that are consistent with VCD in this girl are normal room air pulse oximetry readings,failure to improve with the beta-2 agonist inhaler, clear lungs on examination, difficulty with inspirationinstead of expiration, and a normal expiratory flow loop without signs of obstruction (Item C63A). Thehallmark finding on rhinolaryngoscopy is paradoxic adduction of the vocal cords during inspiration.Endoscopy is the diagnostic tool of choice for laryngeal and vocal cord disorders.Subglottic stenosis and vocal cord paralysis usually present with stridor and primarily affect infants andyounger children. Subglottic stenosis can result from direct laryngotracheal trauma, intubation, orinfection (eg, tuberculosis, diphtheria). Flexible or rigid laryngoscopy can be used to assess the degree ofsubglottic stenosis (Item C63B). Vocal cord paralysis (Item C63C) can occur in the context of congenitalcentral nervous system lesions, surgical correction of congenital cardiac anomalies or tracheoesophagealfistula, or inflammatory processes of the larynx, or it may be idiopathic. Direct visualization of the vocalcords demonstrates the absence of vocal cord motion during inspiration and expiration.
Vocal cord nodules, also called singers nodules (Item C63D), usually occur after repetitive vocal misuse orabuse (eg, excessive loudness, inappropriate pitch, excessive coughing, or throat clearing). On flexiblelaryngoscopy, nodules appear as superficial growths on the medial surface of the true vocal folds.Question 79intrapulmonary sequestrationThe presentation of recurrent unilateral pneumonias should prompt the clinician to consider congenitalmalformations of the lung, specifically pulmonary sequestration. Pulmonary sequestrations can beclassified as intrapulmonary or extrapulmonary. Intrapulmonary sequestrations account for 75% to 90%of all sequestrations. Patients usually present in adolescence or adulthood with cough, wheezing, fever,and recurrent pulmonary infections (Item C79A). Surgical lobectomy generally is curative. Although alsolocated on the left side in most cases, extrapulmonary sequestrations usually present prior to 6 months ofage and often occur in conjunction with other congenital anomalies such as colonic duplication, pulmonaryhypoplasia, or vertebral anomalies. Extrapulmonary sequestration can present similarly to intrapulmonarysequestrations, with cough, dyspnea, and infection, but also can result in feeding difficulty and, in rarecases, congestive heart failure due to increased shunting.Bronchogenic cysts are the most common cause of a cyst in the lung. Most commonly located near centralairway structures, bronchogenic cysts may present with symptoms of airway compression or infection, butthey frequently are asymptomatic and discovered incidentally on chest radiography (Item C79B).Congenital cystic adenomatoid malformation (CCAM) is another common congenital lung anomaly thattypically is identified on prenatal ultrasonography. Most CCAMs present in the newborn period withrespiratory distress (Item C79C) and, depending on the type, may involve an entire lung, be associatedwith congenital anomalies, or result in fetal hydrops and pulmonary hypoplasia. Affected patients canpresent during childhood with recurrent pneumonia, but CCAM is less common than intrapulmonarysequestration at the age of the boy in the vignette.Congenital lobar emphysema (CLE) is the most common neonatal cause of cystic malformation of the lung(Item C79D), and similar to CCAM, typically presents in the neonatal period with respiratory distress andairway obstruction.Question 95 botulismThe diffuse and progressive weakness described for the infant in the vignette is characteristic of infantbotulism. Infant botulism usually occurs in infants younger than 6 months of age and is believed to be dueto the inability of normal intestinal flora to prevent colonization by Clostridium botulinum. Althoughhomemade canned food products and honey are common causes, spores found in soil and released byconstruction may be sufficient to result in clinical symptoms. Therapy is primarily supportive. Infantsshould be monitored closely because up to 50% can develop restrictive pulmonary disease, respiratorydistress, or respiratory failure.Weakness may follow diphtheria infection, but it typically is confined to the muscles of the pharynx andlarynx. Diphtheria infection also may cause serosanguineous rhinitis, fever, and oropharyngeal edema,which were not present in the infant in the vignette.Lead poisoning can cause a variety of clinical manifestations, including no symptoms, behavioral changes,gastrointestinal symptoms, lethargy, seizures, and death. The primary source in the United Statesremains lead-based paint, which would be unlikely in a newly constructed house.Meningitis is an acute infection of the central nervous system. Symptoms vary, depending on thepathogen and host, but they typically include fever, vomiting, neck pain, or in more severe cases,obtundation, coma, seizures, or focal neurologic deficits. The lack of fever and the gradual progression ofsymptoms over 4 days described for the infant in the vignette make meningitis less likely.In contrast to botulism, tetanus is a paralytic disease that results in stiffness, muscle spasm, and rigidity.One of the most common forms worldwide is neonatal tetanus, which typically is due to inappropriate orpoor umbilical stump care.Question 99intravenous caffeine citrateApnea may be the most frequent respiratory problem in preterm infants not requiring assisted ventilation.Even in those treated with assisted ventilation and exogenous surfactant for respiratory distresssyndrome, apnea may present as a clinical problem after weaning from the ventilator. The causes ofapnea are protean (Item C99A) and must be evaluated individually in preterm patients. Immaturity of therespiratory control center is the most common underlying factor.
The preterm infant described in the vignette is extubated, experiencing apnea associated with bradycardiaand arterial oxygen desaturation, and remains on supplemental oxygen. His cardiorespirogram tracingindicates a cessation of chest wall movement preceding bradycardia and desaturation (Item C99B). Nohistory of gastroesophageal reflux is noted. There is no intracranial hemorrhage, profound anemia, orevidence for infection. These findings suggest the diagnosis of idiopathic recurrent apnea, which is treatedbest with intravenous caffeine citrate.Continuous positive airway pressure may treat obstructive apnea effectively. Obstructive apnea isindicated by efforts of chest wall excursion on the tracing during the desaturation and bradycardia. Phrenicnerve pacing is invasive and reserved for patients who have congenital hypoventilation syndrome.Ampicillin is indicated for the treatment of sepsis, which is not seen in this patient. Apnea that is severe,associated with hypoxia or acidosis, and requiring resuscitation with bag-mask-valve positive pressureventilation should be treated with intubation and assisted ventilation.Question 102hepatomegalyArrhythmia encompasses any situation that leads to an abnormality in regular heart conduction and rate.Thus, the occurrence of an arrhythmia or cardiac dysrhythmia is relatively common in the pediatricpopulation. At one end of the spectrum of dysrhythmias are the typically benign premature beats, whichcan occur from the ventricle (premature ventricular complex) or atria (premature atrial complex). Whenthese occur in isolation, at rest, and with a single morphology, such events often are unnoticed and causefew, if any, symptoms. Arrhythmias that may be more serious can arise from either the atrial tissue or theventricular muscle. Disorders of the former include supraventricular tachycardia, atrial ectopic tachycardia,atrial flutter, and atrial fibrillation; those of the latter include ventricular tachycardia and ventricularfibrillation.Children and adolescents who experience atrial arrhythmias often complain of palpitation, with a sensationof a rapid, strong, or even irregular heart rate. If the rhythm persists, affected children may complain ofshortness of breath, dizziness, light-headedness, or even syncope. In younger children and infants whomay not be able to communicate effectively, such sensations may not become apparent until they lead toabnormalities of the hemodynamics that may result in pallor, diaphoresis, diminished perfusion,congestive cardiac failure, and even shock. Ventricular arrhythmias are less common in infants andchildren than they are in adolescents and adults and may be associated with inherited conditions such asthe long QT syndrome, hypertrophic cardiomyopathy, and the Brugada syndrome. Ventricular arrhythmiasare more likely to be malignant and to present with near-syncope, syncope, or even cardiac arrest.The infant described in the vignette has a heart rate that is too fast to count and most likely suffers froman atrial arrhythmia such as supraventricular tachycardia. Because the heart rate in such disorders istypically greater than 240 beats/min, time for the ventricle to fill during diastole is greatly diminished.This leads to rising left atrial pressure, with subsequent pulmonary congestion as the pulmonary vesselsface increased downstream pressure. The rising pressure in the pulmonary circuit leads to an increase inpressure on the right heart, which also faces the difficulty of diminished diastolic time with rising rightatrial pressure. This is transmitted to the systemic veins and often is manifested on physical examinationby distension of the jugular veins and hepatic congestion with hepatomegaly. The tachypnea that resultsfrom the pulmonary vascular congestion leads to difficulty feeding and may exacerbate the appearance ofirritability. In addition, for children who have significant alteration of cardiac output resulting from thearrhythmia, irritability and lethargy may be the result of inadequate cerebral perfusion.Children may manifest crackles over the lungs when in congestive heart failure, but this is not as typical afinding as it is in adults. One reason may be the relative inability of children to cooperate with deep andprolonged inspiration. Cardiac dysrhythmias would not present with conjunctivitis, nuchal rigidity, or rash,as might be expected with systemic or central nervous system infection.Question 116saline nasal dropsViral upper respiratory tract infections are the most common type of infection in infants and youngchildren, and cough is an important reflex that helps to clear excessive secretions from the airway.Parents frequently contact their pediatricians for help with cough, especially at night, when the cough maydisrupt sleep. Many over-the-counter cough and cold preparations are available and marketed for thepediatric population, but parents should be advised as to the effectiveness and safety of thesepreparations.Many of the studies on the efficacy of cough and cold preparations have been conducted in adults; only afew have been performed in children. Randomized, placebo-controlled, blinded trials have failed to showany benefit in children for medications such as antihistamines and decongestants (alone and incombination), antitussives, and narcotics. No studies have shown that the use of expectorants, such as
guaifenesin, provides any benefit. Several adverse effects, including sedation, irritability, and tachycardia,may be seen with the use of these medications. In addition, a recent study attributed three infant deathsto cough and cold medications. Accordingly, the best choice for the parents described in the vignette issaline nasal drops, which are inexpensive and safe. Proper technique is essential for maximumimprovement in congestion, and suctioning should be performed at times when it is most important torelieve congestion, such as before sleeping and eating. Parents also should be educated on the cause andexpected duration of their childs illness as well as concerning symptoms that require further investigation,such as continuation of symptoms beyond 10 to 14 days and dehydration.Question 148 bacterial tracheitisBacterial tracheitis is a serious infection causing significant upper airway obstruction. It typically occurs asa secondary staphylococcal infection following viral laryngotracheobronchitis, but it also may develop as aprimary infection without preceding symptoms of croup. Clinical features include a toxic appearance, withhigh fever, tachypnea, and brassy cough, as described for the girl in the vignette. Airway obstruction canbe pronounced due to purulent airway secretions, and lower airway disease such as wheezes or rales alsomay be present. Neck radiographs often reveal a ragged air column or subglottic narrowing, andperipheral white blood cell counts frequently are elevated. Treatment consists of intravenous antibioticsand airway control. Endotracheal intubation frequently is required until the infection is treated and theseverity of secretions improves.Acute viral laryngotracheitis typically causes a barking cough with occasional inspiratory stridor, butaffected children usually do not have high fevers or appear ill. Angioneurotic edema is a response tohistamine release with an allergic reaction and often is accompanied by urticaria. Upper respiratory tractmucosae become edematous, so inspiratory stridor may be present, but fever is unlikely. Children whohave epiglottitis appear toxic and have significant airway compromise and inspiratory stridor due to theswollen epiglottis. Cough is rare. Lateral neck radiograph reveals an enlarged epiglottis ("thumb sign")(Item C148A) rather than a ragged air column. Further, epiglottitis is unlikely in a child whoseimmunizations are up to date. A retropharyngeal abscess can develop with pharyngitis, and inspiratorystridor and respiratory distress with high fever is typical. The lateral neck radiograph reveals widening ofthe prevertebral tissues (Item C148B), and computed tomography scan of the neck can confirm thepresence of the abscess (Item C148C).Question 163 chronic lung diseaseLong-term neuromotor problems complicate the course of many extremely low-birthweight (ELBW)(<1,000 g) infants. These may be related to intracranial hemorrhage, periventricular leukomalacia, orpoor brain growth and function. The long-term outcome for ELBW infants also is affected by their nutritionand any chronic hypoxia. For preterm infants who have chronic lung disease (CLD), potential intermittentor chronic hypoxia and impaired feeding and caloric intake may have negative effects on their growth.Many ELBW infants have an oral aversion following prolonged oral endotracheal intubation and delayedoromotor development and function. Swallowing dysfunction (dysphagia) may be ascertained clinically asfeeding skills are assessed by experienced nurses, physicians, and speech pathologists, with monitoring ofheart rate, breathing, and arterial oxygen saturation during feedings. Radiographic imaging using afluoroscopic modified barium swallow study can reveal problems with hypopharyngeal pooling, laryngealpenetration, or frank aspiration of milk.The infant described in the vignette has CLD and demonstrates problems in coordinating breathing withsuckling and swallowing. Accordingly, he continues to be assisted with nasogastric tube feedings despitereaching a postconceptive age of 37 weeks. Apnea of prematurity is not present; the infant has passedthe gestational age equivalent of prematurity. Gastroesophageal reflux does not occur during a feedingbut typically presents with postprandial emesis. Necrotizing enterocolitis is a gastrointestinal diseaseassociated with systemic decompensation and an acute abdomen. Tracheoesophageal fistula (TEF) isassociated with respiratory distress and secretion control problems during intervals between feeding; therare H-type fistula with an intact esophagus (accounting for <5% of all TEFs) typically does not present inthe newborn periodQuestion 164 videofluoroscopic swallow studyRecurrent wheezing can be caused by many diseases, including reactive airway disease, cystic fibrosis,extrinsic airway compression, and aspiration with and without gastroesophageal reflux. The history ofcoughing with feedings described for the boy in the vignette should alert the clinician to the possibility ofswallowing dysfunction, with aspiration as the cause of his recurrent symptoms. Accordingly, avideofluoroscopic swallow study is the best diagnostic procedure to reveal the cause of his wheezing.Gastroesophageal reflux is a common cause of recurrent aspiration, but swallowing dysfunction (Item
C164A) without gastroesophageal reflux also can occur and cause significant recurrent respiratorysymptoms. Several types of swallowing dysfunction are seen in infants. Laryngeal penetration (ItemC164B) without aspiration describes the entry of food particles into the airway down to the level of thevocal cords. Aspiration is defined as the entry of food below the level of the vocal cords (Item C164C), andnasopharyngeal backflow or reflux is the entry of food posterior or superior to the soft palate (ItemC164D). One study of infants referred for swallowing study due to recurrent respiratory difficulty showedthat all had some degree of swallowing dysfunction and silent aspiration. The dysfunction resolved in all ofthe infants by age 9 months. Another study showed that of infants who had swallow studies, 50% showedlaryngeal penetration, aspiration, or nasopharyngeal regurgitation. Most of these infants did not cough toclear their airway, which should remind the clinician that absence of cough with feedings does noteliminate the possibility of silent aspiration. If a fluoroscopic swallow study reveals swallowing dysfunction,thickening formula or human milk and feeding in the upright position may improve symptoms. In somecases, cessation of oral feedings and placement of a nasojejunal or gastrostomy tube may be indicated fora period of time.Chest computed tomography scan may be indicated to rule out a structural anomaly if an infant hasrecurrent localized wheezing, but it probably would not be helpful for assessing recurrent diffusewheezing. An immunoglobulin panel can aid in ruling out immunodeficiency, but in an infant who has norecurrent infections and is growing well, immunodeficiency is not likely. Inspiratory and expiratory chestradiographs and pulmonary function testing are technically difficult in infants and would not be of benefitin the evaluation of this child.Question 56intravenous administration of adenosineArrhythmias can occur in children with and without structural congenital heart disease. The most commonarrhythmia in an otherwise well infant is supraventricular tachycardia (SVT). This group of arrhythmiasoriginates above the bundle of His and the ventricles and often uses an accessory pathway to completethe abnormal electrical circuit. When tachycardia occurs, the electrical impulse typically (90% of the time)travels down the normal pathway to the atrioventricular (AV) node and activates the ventricle. Theimpulse then uses the accessory pathway to travel back up (retrograde) to the atrium and depolarizes itagain. This completes the circuit, which quickly allows the impulse to travel down toward the ventricleagain. This pattern of depolarization yields a narrow QRS complex on surface electrocardiography at ratesthat typically range between 240 and 300 beats/min.Although infants and young children often tolerate such tachycardia for short periods of time (minutes oreven hours), signs and symptoms of congestive heart failure result with continued tachycardia. Symptomsand signs may include shortness of breath and tachypnea due to abnormal filling of the left atrium; pallor,irritability, and weak pulses resulting from decreased left ventricular output; and decreased feeding fromboth of these physiologic conditions. If the underlying arrhythmia is not treated successfully, thesymptoms progress to cardiopulmonary failure.Treatment of SVT is directed at breaking the abnormal electrical circuit with a variety of antiarrhythmicmedications, all of which have significant adverse effects and potential complications. The safest andfastest acting of these is adenosine, which acts at the AV node by inducing a transient block. Thus, whenthe impulse travels down though the AV node, its conduction is blocked. The sinus node then fires andbecause of the short half-life of adenosine, it may conduct through the AV node and depolarize theventricles in a normal pattern, converting (restoring) the arrhythmia to sinus rhythm. Adenosine isadministered by intravenous push, often followed by 10 mL of normal saline, and patients should receivecardiovascular monitoring during the therapy. Adverse effects from adenosine generally are of very briefduration because of the short half-life of the drug and may include flushing and a sense of chest tightness.The narrow complex tachyarrhythmia in the conscious infant in the vignette combined with her signs andsymptoms are consistent with progressive cardiovascular compromise. After oxygen is applied and she isplaced on a cardiovascular monitor, adenosine administration is indicated. Carotid massage is not advisedor recommended in children. Defibrillation is used for ventricular fibrillation, a life-threatening arrhythmiathat leads to immediate cardiovascular collapse. Holter monitoring allows for long-term (24-hour)ambulatory electrocardiographic assessment of patients, which may be indicated for diagnostic purposesin patients who have an arrhythmia but does not have a role in the immediate management of the patientin the vignette. Verapamil, a calcium channel blocker, can be an effective antiarrhythmic agent in olderchildren and adults, but its use is contraindicated in neonates and infants younger than 1 year of age.Question 72sinus tachycardia with hyperthyroidism
There are a number of reasons why a teenage patient may complain of tachycardia. It is important todetermine whether the tachycardia is sinus (normal in conduction) or arrhythmic (abnormal inconduction). Sinus tachycardia can be considered as a normal heart and conduction system responding toa stimulus (eg, fever, infection, anemia, hypoxia, hypotension, dehydration, fear, anxiety, excitement,hyperthyroidism, pheochromocytoma). It is important to consider the possibility of stimulant orsympathomimetic medications received from prescription, over-the-counter, or illicit sources as a stimulusfor the tachycardia.The adolescent patient described in the vignette has complaints of tachycardia of more than 1 month induration, which is confirmed on examination. Her anxiety, weight loss, and electrocardiographic findingsare consistent with hyperthyroidism, and the electrocardiogram reveals sinus tachycardia with a P wavebefore each QRS complex.The electrocardiogram does not reveal sinus arrhythmia, a variation in rate with respiratory pattern, sinusnode disease, or the pre-excitation delta wave that is the hallmark of Wolff-Parkinson-White syndrome.Because the electrocardiogram reveals a P wave before each QRS complex, this is not supraventriculartachycardia.Question 88 cardiology referral with echocardiography and no practice or games until the evaluation iscompletedMarfan syndrome is a connective tissue disorder that typically is inherited in an autosomal dominantpattern. The disorder is known to be caused by mutations in the fibrillin gene on chromosome 15, with theabnormal fibrillin affecting the extracellular myofibrils that serve as support for the formation of elastinnetworks in connective tissue. The abnormal fibrillin is associated with variable cardiovascular, skeletal,and ocular features of Marfan syndrome. Not all people who have Marfan syndrome have cardiovascularinvolvement, but the blood vessels, cardiac valves, and myocardium all contain substantial amounts ofelastic fibers. Cardiovascular abnormalities may include dilation or aneurysm of the arterial vessels,including the aorta, pulmonary arteries, and coronary arteries. The mitral valve often is affected,demonstrating dysplasia, prolapse, and dysfunction. The same may be found at the tricuspid valve.Skeletal findings of Marfan syndrome may include scoliosis, a tall thin habitus, pectus deformities,arachnodactyly (Item C88A), and hypermobility of the joints (Item C88B). Among the possible ocularfindings are ectopia lentis or lens dislocation. Often, the arm span-to-height ratio exceeds 1.05.Patients in whom Marfan syndrome has been diagnosed or is highly suspected should be counseled toavoid participation in competitive contact sports. Avoidance of contact sports is important because there isan increased risk of cardiac, skeletal, and ophthalmologic problems resulting from injury. Specifically withrespect to the cardiovascular system, there can be tearing of the weakened, abnormal aortic wall, whichcan lead to a catastrophic outcome. Patients who have Marfan syndrome and no evidence of cardiacdisease still should avoid contact sports and significant isometric effort because these sports may damagethe vasculature.The patient described in the vignette is seeking medical care for minor trauma of his finger, but physicalexamination findings are highly suggestive of Marfan syndrome. Until the diagnostic question is answered,the patient should not participate in contact sports. Because practice for a sport often is as competitiveand rough as games, both should be avoided. Consultation with an experienced pediatric cardiologist isimportant, and imaging of the heart with echocardiography is essential to evaluate for the possibility ofcardiovascular involvement. However, normal echocardiographic findings do not mean that the patientdoes not have Marfan syndrome. All patients should receive a detailed genetics evaluation, but self-limitedparticipation in basketball games is contraindicated.Although echocardiography and genetic consultation are important aspects of care for these patients,electrocardiography and exercise stress testing are not routine because they are neither sensitive norspecific for the diagnosis of Marfan syndrome. Standard chromosomal analysis generally is not helpfulbecause it does not reveal the specific genetic mutation. Gene-specific sequencing is available, but iscostly. For families in which there is a known gene mutation, genetic sequencing of the child may beuseful and cost-efficient.