American Academy of Pediatrics

A 12-year-old boy presents to his pediatrician's office with a complaint of swelling just below his left knee. There is no complaint of pain associated with the lump. He has no recollection of trauma. There is no history of redness or other skin changes related to this condition. The patient is not sure how long the lesion has been present but is concerned that it is not regressing. The swelling was insidious in presentation with no acute changes noted during the course. There has been no fever, rash, joint, or muscle aches, limp, or other constitutional symptoms. The patient has no other medical conditions or recent travel history and is up to date on immunizations.

A previously healthy and fully vaccinated 12-year-old boy from Trujillo, Peru, presented with an 8-day history of progressively worsening symptoms before his transfer and admission to our hospital. Approximately 1 month before symptom onset, he had visited a zoo in the rural outskirts of his city, where he fed and interacted with animals. His illness initially manifested with anorexia, myalgias, headache, abdominal pain, and fever, which was poorly responsive to antipyretics. By the fourth day of illness, he developed recurrent episodes of vomiting and signs of dehydration, prompting evaluation and admission to a local health care facility. During this initial hospitalization, he developed a purpuric rash on his lower limbs and chest. At that time, his vital signs were stable, and both his physical examination and mental status were unremarkable. Laboratory results revealed a leukocyte count of 8350/μL, 4% bands, hemoglobin (Hb) of 12 g/dL, platelet count of 267 ×...

This patient is a 3-month-old, full-term infant with no personal or family cardiac history who presented to the pediatrician with a chief complaint of increased fussiness and spit ups and was found to have a new murmur.

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Maple syrup urine disease (MSUD) is an inherited disorder of the branched-chain alpha-ketoacid dehydrogenase enzyme complex, which breaks down branched-chain amino acids (leucine, isoleucine, and valine). Deficiency in the activity of the enzyme complex causes an accumulation of leucine and ketoacids. Symptoms can include encephalopathy and central respiratory failure, likely due to a higher affinity for leucine over other amino acids and resultant uptake in the brain and nervous system. Elevated leucine can also cause renal sodium loss, resulting in cerebral edema. The disorder name comes from the distinctive and characteristic odor of maple syrup, which may be noticed in urine. Of note, families that are not culturally exposed to maple syrup may describe the odor as “sweet” or associate it with other breakfast foods. It is critical for the primary care clinician to understand that by the time this odor is detectable in an infant, the child is already...

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A 5-day-old male neonate born at 39 weeks’ gestation is brought to the hospital because of a fever measured at home. One day prior to the recorded fever, the neonate was fussy, and the parents reported intermittently needing to wake him for feeding. On examination, the infant was well-appearing with no cyanosis, respiratory distress, or tachypnea. All vital signs were typical, aside from a mildly low oxygen saturation of 93%. The neonatologist appreciated a continuous machine-like holosystolic murmur along the left sternal border with radiation to the left axilla. The infant was admitted to the neonatal intensive care unit, and a complete sepsis examination was performed including blood, urine, and cerebrospinal fluid cultures. The infant was given antibiotics.During the infant’s birth hospitalization, there were no concerns, and the infant had regular routine testing including the critical congenital heart disease (CCHD) screening. However, because of the loud murmur, a transthoracic echocardiogram was obtained (Videos 1–4), and the cardiologist noted a significant congenital heart defect. As the neonatologist, you meet with the family to discuss the diagnosis of the infant’s condition. The family would like to know about their son’s prognosis. What is the infant’s most likely congenital heart defect? Tetralogy of Fallot with major aortopulmonary collateral arteries.Transposition of the great arteries.Tricuspid atresia.Ventricular septal defect.What is the natural history of this infant’s most likely condition if the family elected to forego cardiac surgery? Affected infants will develop progressively worsening cyanosis and low survival rates.For those affected infants who pass congenital heart disease screening, a good prognosis is anticipated without a need for cardiac surgery.The majority of affected infants die within the first month of age without surgical intervention.Surgical intervention is futile for this cardiac abnormality.The constellation of echocardiographic findings of the infant in this vignette is consistent with tetralogy of Fallot (TOF) with major aortopulmonary collateral arteries (MAPCA). In the apical 4-chamber view (Video 1), as the view sweeps anteriorly toward the aorta, a large ventricular septal defect (VSD) is visualized, and the aorta is seen overriding the ventricular septum. In the parasternal long axis view (Video 2), the aorta is once again seen overriding the ventricular septum. The large VSD is also shown well in this view. Video 3 demonstrates 2 MAPCA that are arising from the undersurface of the aorta. Video 4 shows 1 MAPCA arising from the left main coronary artery, which is also noted to be dilated. Additionally, this patient also had an atrial septal defect, and the main pulmonary artery was noted to be atretic.TOF is the most common cyanotic congenital heart disease.1 The primary echocardiographic findings in patients with TOF is narrowing of the pulmonary outflow tract, overriding aorta, right ventricular hypertrophy, and a VSD.2 The anterior deviation of the outlet septum is a cardinal feature of TOF that can be easily visualized on echocardiograph.2 In patients with the most severe variant of TOF, the pulmonary valve can be atretic.2 In such patients, the lungs are entirely supplied by systemic arterial circulation via a patent ductus arteriosus, MAPCA, coronary arteries, or a combination of bronchial or pleural arteries. Multiple MAPCA most commonly branch from the descending aorta, and their diameter ranges from 1 mm to 20 mm, providing a stable source of pulmonary flow in newborns.2 However, nearly 60% of collaterals will progressively stenose, rendering pulmonary flow inadequate as patients grow.2The current standard of care for detection of CCHD involves newborn pulse oximetry screening, which involves obtaining pulse oximetry data from the right arm and a foot.3 Based on the most recent recommendations, an infant “passes” the screening if the oxygen saturations in both the arm and the leg are 95% or higher.3 If infants “fail” initial pulse oximetry screening, 1 retest is permitted. Although the specificity of pulse oximetry screening for CCHD is 99.9%, the sensitivity is only 76.3%.4 Therefore, up to a quarter of newborns with CCHD may not be detected by the pulse oximetry newborn screening.Neonates with TOF and MAPCA with a patent ductus arteriosus may have normal oxygen saturation levels soon after birth and pass the CCHD screening.2 However, when the patent ductus arteriosus closes and the collateral pulmonary blood flow is inadequate, an infant will present with clinical findings, such as a heart murmur, poor pulses, cyanosis, poor feeding, tachypnea, diaphoresis, and failure to thrive.2 Infants with TOF and MAPCA, with sufficiently developed collateral pulmonary flow, can have normal oxygen saturations and pass the CCHD screening.For those infants whose conditions are diagnosed as TOF with MAPCA, advanced imaging studies, such as a computed tomography scan, should be obtained to define the origin, size, and course of the MAPCA. Cardiac catheterization may also be performed to obtain hemodynamic assessment and further define the collaterals by angiography. Based on the size of the branch pulmonary arteries, the surgical approach may include a unifocalization procedure.2 In this procedure, the MAPCA are disconnected from the aorta and repositioned to connect with the right ventricle via a conduit, which creates a single and reliable source of pulmonary blood flow. If the branch pulmonary arteries are found to be significantly hypoplastic, then this procedure may require a staged approach by first placing a shunt, such as a modified Blalock-Taussig shunt, to augment the pulmonary blood flow. Once adequate growth of the branch pulmonary arteries is achieved, the surgeon may then proceed with the unifocalization procedure. Sixty-eight percent of patients with TOF and MAPCA undergo complete surgical repair, which has a 10-year survival rate of 92.5%.2Affected patients who are asymptomatic and do not undergo surgery have good 1-month survival rates because of adequate pulmonary blood flow. However, without cardiac intervention, the MAPCA become progressively stenotic, and affected infants develop worsening hypoxemia over time. The time window before an infant become hypoxemic varies widely owing to the number of MAPCA, location of MAPCA, genetic abnormalities, and patient-specific morbidities.5 If surgical intervention is not performed, a patient with TOF and MAPCA will progressively develop stenosis of the collaterals, leading to debilitating hypoxemia and low quality of life.6 Patients without repair have a survival rate as low as 24% at 10 years of age.7Question 1: A. Tetralogy of Fallot.Question 2: A. Affected infants will develop progressively worsening cyanosis and low survival rates.Although this patient has a VSD that is not the only abnormality noted on the echocardiogram, in patients with transposition of the great arteries, the aorta arises from the right ventricle, and the pulmonary artery arises from the left ventricle. In this patient, the echocardiographic images show that the aorta arises from the left ventricle and there is no main pulmonary artery. In patients with tricuspid atresia, the tricuspid valve is atretic and the right ventricle is hypoplastic. This patient’s echocardiograph shows a well-functioning tricuspid valve and an average sized right ventricle.American Board of Pediatrics Neonatal-Perinatal Content SpecificationUnderstand cardiovascular physiology.Know anatomy and development of the cardiovascular system.

A 5-week-old, ex-38-week boy with a history of neonatal abstinence syndrome is brought to the pediatric emergency department (ED) by his biological mother for labored breathing and change in cry. His symptoms began the evening before presentation with nasal congestion and decreased oral intake. The patient's mother brought him to the ED when she could “feel the congestion” on touching the baby's chest. She noted that he is crying more frequently than usual and that his cry sounds different. She denies associated cyanosis and changes in color. There is no associated fever, cough, apnea, rash, vomiting, diarrhea, decreased urine output, or sick contacts.

Return to play (RTP) is the process of safely returning an injured athlete back to sport or activity. RTP protocols for surgical procedures such as anterior cruciate ligament repair have been researched and documented extensively. Other than concussion, detailed RTP guidelines for common, nonoperative sport injuries are less available. For this brief, we will concentrate on sports injuries frequently encountered by primary care providers (PCPs). Given their pivotal role as initial evaluators, we aim to present a holistic and comprehensive clinical perspective on RTP decisions for the general pediatrician.

A 14-year-old girl with a 6-month history of recurrent epigastric and right upper quadrant abdominal pain, nausea, and nonbilious emesis presents to the emergency department (ED) with symptom recurrence for 48 hours. Her pain is a 7/10 stabbing sensation radiating to her back. Her pain improves after intravenous pain medication and vomiting; eating and drinking worsen her symptoms. Episodes have lasted a few days, with symptom resolution between episodes. She has had no weight loss, stool changes, or fevers. Her periods are irregular, and she is not sexually active. She has no relevant family history, and her past medical history is significant only for these episodes. She has no prior hospitalizations or surgeries.