Pediatric Cardiovascular Disorders

A full-term male newborn, aged 4 hours, is evaluated in the neonatal care unit due to the sudden onset of a bluish discoloration of the lips and face. The pregnancy and vaginal delivery were entirely uncomplicated, and Apgar scores were normal. Current vital signs include a temperature of $37.0^\circ\text{C}$ ($98.6^\circ\text{F}$), a heart rate of $160/\text{min}$, a respiratory rate of $62/\text{min}$, and an oxygen saturation of $71\%$ on room air. The patient is placed in a headbox with $100\%$ fraction of inspired oxygen; a repeat saturation measurement after 15 minutes is $73\%$. Physical examination reveals a tachypneic infant with profound central cyanosis but no nasal flaring or retractions. Cardiac auscultation identifies a loud, single second heart sound (S2) and a grade 2/6 holosystolic murmur heard best at the left lower sternal border. Palpation of the brachial and femoral pulses reveals symmetric, 2+ intensity with no pulse discrepancies. A portable chest radiograph displays a narrow mediastinal silhouette resembling an egg on a string, alongside normal pulmonary vascular markings. Which of the following is the most appropriate next step in the management of this patient?

A newborn male, delivered at 38 weeks of gestation following an uncomplicated pregnancy, develops profound perioral and truncal cyanosis at 4 hours of life. His peripheral oxygen saturation is 58% on room air and increases to only 62% after 15 minutes of 100% fraction of inspired oxygen ($FiO_2$) via headbox. His respiratory rate is 65/min with minimal work of breathing. Cardiac auscultation reveals a single, loud second heart sound ($S_2$) and a faint, non-radiating systolic murmur at the left mid-sternal border. Urgent echocardiography confirms the aorta arising anteriorly from the right ventricle and the pulmonary trunk arising posteriorly from the left ventricle. The ventricular septum is intact, and color Doppler demonstrates a highly restrictive patent foramen ovale ($PFO$) with minimal bidirectional flow. Arrange the following interventions in the most appropriate chronological sequence for the management of this patient, from immediate life-saving stabilization to definitive treatment.

A 3-day-old male infant is brought to the emergency department by his parents due to poor feeding, lethargy, and a bluish discoloration of his lips that started this morning. The infant was born at 39 weeks gestation via uncomplicated vaginal delivery and was discharged home at 48 hours of life. On arrival, the infant appears mottled and lethargic. Vital signs show a temperature of 36.5°C (97.7°F), heart rate of 185/min, respiratory rate of 72/min, and blood pressure of 55/35 mm Hg in the right arm and 53/34 mm Hg in the left leg. Oxygen saturation is 72% on room air. Administration of 100% oxygen via non-rebreather mask for 10 minutes raises the oxygen saturation to 74%. Physical examination reveals central cyanosis and prominent subcostal retractions. Cardiac auscultation demonstrates a single, loud second heart sound (S2) and a grade 2/6 systolic ejection murmur at the left upper sternal border. The liver edge is palpated 3 cm below the right costal margin. Femoral pulses are equal but diminished bilaterally. Capillary refill time is 4 seconds. Which of the following is the most appropriate next step in management?

A $2$-hour-old term male neonate is evaluated in the neonatal intensive care unit for profound cyanosis that developed shortly after birth. His mother had an uncomplicated pregnancy and vaginal delivery. On initial evaluation, his oxygen saturation was $60\%$ on room air and failed to improve significantly during a hyperoxia test. An echocardiogram revealed D-transposition of the great arteries with an intact ventricular septum. An intravenous prostaglandin E1 infusion was promptly initiated. One hour later, the neonate becomes apneic, requiring endotracheal intubation and mechanical ventilation. Despite $100\%$ fraction of inspired oxygen ($FiO_2$) on the ventilator, his oxygen saturation remains at $58\%$. An arterial blood gas shows pH $7.15$, $PaCO_2$ $40$ mmHg, $PaO_2$ $25$ mmHg, and $HCO_3^-$ $14$ mEq/L. The patient is tachycardic and hypotensive. A repeat bedside echocardiogram demonstrates a widely patent ductus arteriosus and a severely restrictive patent foramen ovale bowing right-to-left. Which of the following is the next best step in management?

Match each of the following pediatric congenital heart defects with its classic clinical or auscultatory finding.

A 10-month-old boy is brought to the emergency department by his parents following an episode of profound cyanosis. The parents report that he was crying inconsolably when he suddenly developed blue discoloration around his lips and began breathing very rapidly. His mother states she instinctively brought his knees to his chest, which seemed to gradually improve his color over several minutes. The patient has a history of a heart murmur, but the family recently immigrated and his medical records are unavailable. He is currently resting quietly. Vital signs are temperature 37.1°C (98.8°F), heart rate 130/min, respiratory rate 28/min, and blood pressure 85/50 mm Hg. Oxygen saturation is 94% on room air. Cardiac auscultation reveals a normal S1, a single S2, and a grade 3/6 harsh systolic ejection murmur heard best at the left upper sternal border. If a similar cyanotic episode recurs while the patient is in the emergency department, which of the following is the most appropriate next step in management?

Match the following clinical vignettes of neonatal cyanotic heart disease with the most likely underlying congenital cardiac defect.

Match each patient's clinical presentation to the most likely underlying cardiovascular anomaly.

A pediatrics clerkship director is reviewing classic presentations of congenital heart diseases with medical students. Match each congenital heart defect to its most characteristic clinical or radiographic finding.

A 14-week-old female infant is evaluated in the pediatric emergency department for increased work of breathing and diaphoresis during feeding. Over the past three weeks, her mother has noticed that she tires easily during nursing and fails to complete feeds. Her weight is below the 5th percentile, having previously tracked at the 50th percentile at birth. Vital signs demonstrate a temperature of 36.9°C (98.4°F), heart rate of 172/min, respiratory rate of 68/min, and oxygen saturation of 94% on room air. Physical examination reveals subcostal retractions and diffuse expiratory wheezes accompanied by basilar crackles bilaterally. Cardiac auscultation demonstrates a hyperdynamic precordium and a grade 4/6 harsh holosystolic murmur over the left lower sternal border with a palpable thrill. Palpation of the abdomen reveals hepatomegaly 3.5 cm below the right costal margin. Which of the following is the most appropriate next step in the management of this patient?

A 7-week-old male infant is evaluated in the emergency department due to progressive respiratory distress and extreme irritability. His parents report that over the past two weeks, he has begun sweating profusely and crying inconsolably after only a few minutes of breastfeeding. He often pauses to pant during feeds and appears pale. He has not gained weight since his 2-week pediatric visit. He was born at full term without complications. His temperature is 36.9°C (98.4°F), heart rate is 188/min, respiratory rate is 74/min, and blood pressure is 68/42 mm Hg. Oxygen saturation is 94% on room air. The infant appears lethargic, grayish, and is using severe intercostal and subcostal retractions to breathe. Pulmonary examination reveals diffuse expiratory wheezing and fine bibasilar crackles. Cardiovascular examination demonstrates a hyperactive precordium, a prominent S3 gallop, and a grade 3/6 holosystolic murmur heard best at the apex. The liver edge is palpated 5 cm below the right costal margin. Capillary refill is 4 seconds. An electrocardiogram demonstrates sinus tachycardia with deep, narrow Q waves and ST-segment elevations in leads I, aVL, V5, and V6. Which of the following is the most appropriate next step in the management of this patient?

During a routine well-child visit, the parents of an 18-week-old female infant express concern regarding her feeding habits. They note that she consistently breaks into a sweat and appears fatigued after only a few minutes of bottle feeding. The patient's weight has dropped from the 50th percentile at birth to below the 5th percentile. Vital signs indicate a heart rate of 162/min and a respiratory rate of 68/min, with an oxygen saturation of 98% on room air. Auscultation of the lungs reveals scattered expiratory wheezes. Cardiac auscultation demonstrates a hyperdynamic precordium and a loud, harsh holosystolic murmur over the left lower sternal border. The abdomen is soft, but the liver edge is palpable 3.5 cm below the right costal margin. Which of the following is the most appropriate next step in the management of this patient?

Parents arrive at an urgent care clinic holding their 8-month-old infant, who appears profoundly blue and is crying inconsolably. The family recently immigrated and the child's medical records are unavailable, but the parents mention a doctor once heard a 'hole in the heart'. Vital signs show severe hypoxia with an oxygen saturation of 65% on room air. Physical examination reveals deep central cyanosis and a remarkably quiet precordium with only a faint systolic murmur at the left upper sternal border. The physician identifies a hypercyanotic spell secondary to a right ventricular outflow tract obstruction. Arrange the appropriate acute management steps for this condition in the correct sequential order, from initial first-line intervention to therapy for refractory symptoms.

An infant with an uncorrected congenital heart defect presents to the emergency department with profound cyanosis and severe agitation that began abruptly after a crying fit. He is 10 months of age. Examination reveals tachypnea and a harsh systolic ejection murmur at the left upper sternal border that is noticeably diminished in intensity compared to his baseline. Arrange the following acute management steps in the most appropriate sequential order from first (most immediate) to last (refractory management).

A term neonate is delivered via uncomplicated vaginal delivery and immediately takes a vigorous first breath. This initiates the critical transition from parallel fetal circulation to in-series neonatal circulation. Arrange the following physiological and hemodynamic events in the correct chronological sequence that directly culminates in the functional closure of the foramen ovale.

An 8-month-old infant with an unrepaired congenital heart defect presents to the emergency department with an acute episode of extreme irritability, tachypnea, and profound cyanosis. The parents report the episode began shortly after a prolonged crying spell. On physical examination, the infant's oxygen saturation is 56% on room air, and a previously noted harsh, systolic ejection murmur at the left upper sternal border is now remarkably diminished. The medical team determines the patient is experiencing a severe, progressive hypercyanotic ('tet') spell.

Arrange the following therapeutic interventions in the correct sequential order for managing this acute presentation, progressing from immediate initial measures to pharmacological therapies for a refractory episode.

A 6-week-old boy is evaluated in the pediatric clinic due to difficulty with feeding. His mother reports that he requires frequent pauses while nursing and becomes remarkably sweaty and breathless during his feeds. His weight has dropped from the 50th percentile at birth to the 5th percentile currently. Vital signs demonstrate a heart rate of 158/min and a respiratory rate of 68/min. Physical examination reveals a loud, harsh holosystolic murmur heard best at the left lower sternal border, accompanied by a palpable thrill. Lung auscultation reveals bilateral basilar crackles and diffuse wheezing. Which of the following is the most appropriate next step in the management of this patient?

A 14-hour-old male neonate, born at 39 weeks gestation, develops severe generalized cyanosis and tachypnea. Vital signs are temperature 36.8°C, heart rate 170/min, respiratory rate 75/min, and blood pressure 62/40 mm Hg. Pulse oximetry is 62% on room air. The patient is placed on 100% oxygen via a non-rebreather mask, and repeat pulse oximetry 15 minutes later is 64%. An intravenous infusion of alprostadil is immediately initiated. One hour later, the neonate remains profoundly cyanotic with an SpO₂ of 66% and exhibits severe intercostal retractions. Echocardiography demonstrates atrioventricular concordance with ventriculoarterial discordance. The ventricular septum is intact. A patent ductus arteriosus is present with bidirectional shunting. The interatrial septum bulges into the right atrium, and color Doppler reveals a 1.2-mm patent foramen ovale with a high-velocity, restrictive left-to-right shunt. Which of the following is the most appropriate next step in the management of this patient?

During a routine follow-up visit at the pediatric clinic, a $5$-day-old boy is noted to be profoundly lethargic with increased work of breathing. The mother reports that he has been sweating profusely during attempts to breastfeed over the last $12$ hours and has not produced a wet diaper since yesterday. The pregnancy and term delivery were uncomplicated, and he was discharged home at $48$ hours of life without any apparent issues. Vital signs show a temperature of $36.5^\circ\text{C}$ ($97.7^\circ\text{F}$), heart rate of $190/\text{min}$, and respiratory rate of $72/\text{min}$. Blood pressure is $88/54 \text{ mm Hg}$ in the right upper extremity and $48/30 \text{ mm Hg}$ in the left lower extremity. Physical examination reveals a mottled, poorly responsive neonate with significant subcostal retractions and nasal flaring. Auscultation of the chest demonstrates a prominent parasternal heave, a harsh systolic murmur heard best over the left paravertebral interscapular area, and diffuse bilateral crackles. Palpation reveals bounding brachial pulses, but the femoral pulses are completely imperceptible. Pulse oximetry indicates an oxygen saturation of $97\%$ on the right hand and $84\%$ on the right foot. Arterial blood gas reveals a pH of $7.12$, $pCO_2$ of $32 \text{ mm Hg}$, and $HCO_3^-$ of $10 \text{ mEq/L}$. Which of the following is the most appropriate initial step in the management of this patient?

A 6-day-old girl is rushed to the emergency department due to a sudden onset of lethargy and rapid breathing. Her parents report that she had been feeding well until 12 hours ago but has progressively become difficult to arouse. She was born at 39 weeks gestation following an uncomplicated pregnancy and was discharged home on her second day of life.

Physical examination reveals an ashen, mottled infant with severe intercostal retractions. Capillary refill is 5 seconds. Brachial pulses are palpable, but femoral and pedal pulses are absent bilaterally. The liver edge is palpated 4 cm below the right costal margin. Arterial blood gas analysis demonstrates a pH of 7.15, $pCO_2$ of 32 mm Hg, and $pO_2$ of 65 mm Hg.

Which of the following is the most appropriate next step in the management of this patient?