An 8-day-old boy is brought to the ED by his mother for lethargy and “fast breathing.” She states that he has not been feeding well for the past couple of days and his breathing has become faster and more labored over the past 24 hours. This morning he became lethargic and looked pale. She denies any fever, cough, vomiting, or diarrhea. The baby was born at term and delivered at home by a midwife, and there was little prenatal care. He has been exclusively breastfed, but feeds have become progressively shorter over the preceding 48 hours. At triage, the infant appeared ashen gray and limp, with the following vital signs: temperature, 36°C; heart rate, 194 beats/min; respiratory rate, 76 breaths/min; and initial oxygen saturation, 92% on room air. He was rushed back to the resuscitation room. As you enter the room to evaluate this critically ill neonate, you consider sepsis, metabolic disease, and congenital heart disease, and wonder how you can distinguish among these potential causes of critical illness in the first weeks of life. Given the clinical picture of this neonate, you administer broad-spectrum antibiotics, begin fluid resuscitation, and consider whether to initiate empiric prostaglandin, but you are not sure if this is necessary or safe without a clear diagnosis.
A 3-month-old girl is brought to the ED by her parents in January for difficulty breathing. Her mother has noticed a gradual increase in her work of breathing over the past few days, along with poor feeding. She has a slight runny nose but no fever or cough and no vomiting or diarrhea. Her 2-year-old sibling has had a cold for the past few days. The infant was born at 37 weeks after an uncomplicated pregnancy and spontaneous vaginal delivery, and discharged at 24 hours of life. Her pediatrician noted a heart murmur at her 2-month visit and referred her to a cardiologist for further evaluation, but the appointment is not until the next week. Upon further questioning, the mother says that she has been a difficult feeder, but that she seems to be getting worse, with shorter feeds and falling asleep at the breast, and she seems sweaty during feeds. She also noted that the infant is not gaining weight. At triage, her vital signs are: temperature, 37.6°C; heart rate, 180 beats/min; respiratory rate, 60 breaths/min; and oxygen saturation, 90% on room air. She is noted to have moderate respiratory distress. On examination, you note labored breathing with scattered rales, rhonchi, and mild wheezing, making it difficult to appreciate the heart sounds. You consider bronchiolitis, but decide to obtain a chest x-ray, given her history. The x-ray revealed a large heart, patchy perihilar opacities, and some fluid in the fissures. You suspect congestive heart failure and wonder if additional tests may be helpful and what medical therapies are indicated.
Congenital heart disease (CHD) includes a spectrum of anatomic malformations of the heart and great vessels that occur during embryologic development of the fetus and can cause a wide range of physiologic perturbations and physical signs and symptoms. While many defects are identified prenatally through fetal ultrasound (including approximately 33% of all CHD and 57%-83% of critical lesions)1 or diagnosed in the newborn period prior to discharge from the hospital, some CHD may go unrecognized and present without previous diagnosis to the emergency department (ED). The emergency clinician must maintain a high index of suspicion in these rare cases, as the clinical picture of undiagnosed CHD can be nonspecific, can mimic other common and benign childhood disease, or can present with a child in extremis. Infants and children with partially or fully corrected or palliated CHD may also present to the ED with complications related to the structural heart disease, the surgical repair, or as a result of concurrent illness in the setting of limited physiologic reserves. This review focuses primarily on the presentation, evaluation, and stabilization of undiagnosed CHD presenting to the ED, but will also touch on common emergencies in the patient with known heart defects.
CHD is the most common major congenital anomaly, comprising one-third of all congenital malformations, and is the most common cause of mortality from birth defects in infants.1,2 Differing definitions of CHD and methodologies make the exact determination of birth prevalence difficult; however, a 2011 systematic review and meta-analysis of 114 articles representing more than 24,000,000 births estimates a worldwide birth prevalence of 9.1/1000.2 There is significant geographic variability, with the highest rates of CHD seen in Asia (9.3/1000), followed by Europe (8.2/1000), North America (6.9/1000), and the lowest rate noted in Africa (1.9/1000).2 The birth prevalence of CHD appears to have increased worldwide over the past century, and leveled off since the late 1990s. Possible explanations for the increased prevalence include improvements in diagnosis (eg, fetal ultrasound and echocardiography), improved prenatal care with increased survival of preterm infants, or changing social and environmental determinants of disease (eg, delayed age of maternity, medication, or toxic exposures).
The spectrum of anatomic defects associated with CHD is broad, but 8 discrete lesions comprise more than three-quarters of all defects.2 (See Table 1.) Complex and critical CHD, such as hypoplastic left heart syndrome (HLHS), total anomalous pulmonary venous return (TAPVR), and anomalous left coronary artery from the pulmonary artery (ALCAPA), are less common but important forms of CHD.
While reviews and textbooks often categorize CHD based on the anatomy or physiology of structural lesions, it is more useful to the emergency clinician to consider the clinical presentations of CHD. Undiagnosed CHD can present in several ways, depending on the pathophysiology of the lesion(s), although individual variations may lead to overlapping features. Cardiovascular collapse/shock is typically seen in CHD and is characterized predominantly by left outflow tract obstruction. Cyanosis may be the presenting feature in lesions with limited pulmonary blood flow or right-to-left shunting of deoxygenated blood, or both. Respiratory distress from congestive heart failure (CHF) typically results from left-to-right shunting of blood, resulting in pulmonary overcirculation. Table 2 summarizes the 3 main clinical presentations of CHD, including the symptoms, signs, and potential anatomic lesions associated with each.
Another potentially useful way to identify CHD is by the age of presentation. Lesions that depend on the ductus arteriosus for pulmonary or systemic circulation typically present with cyanosis or shock in the first week or weeks of life as the ductus closes. Lesions that result in pulmonary overcirculation leading to CHF more often develop gradually in the second or third month of life as falling pulmonary vascular resistance increases left-to-right shunting and results in pulmonary edema. Figure 1 depicts the typical age of presentation for various types of CHD.
A literature search was performed in PubMed using combinations of the search terms congenital heart disease or congenital heart defects and emergency department, epidemiology, etiology, embryology, genetics, congestive heart failure, shock, cardiogenic shock, cyanosis, prostaglandin, PGE1, and vasopressors. Only articles published in English whose subjects included children aged birth to 18 years were reviewed. Within CHD, only 25 clinical trials were available, none were conducted in the ED, and only 1 (on the use of prostaglandin E1 [PGE1]) was relevant to the acute management of infants and children with CHD. There was 1 practice guideline and evidence-based review of the management of pediatric heart failure that was not specific to CHD. The lack of high-quality evidence relevant to the ED management of infants and children with CHD is not surprising, given the rarity of ED presentation, the frequently critical nature of acute illness in these children, and the general difficulties related to clinical trials in the pediatric population. In the absence of evidence from clinical trials, the literature review was broadened to include review articles, systematic reviews, and case series related to pediatric CHD in the ED as well as the results of literature searches for specific therapies for pediatric cardiogenic shock, pediatric CHF, and complications of CHD and its surgical palliation and repair. In total, more than 70 peer-reviewed articles comprise the literature that informed this review.
Evidence-based medicine requires a critical appraisal of the literature based upon study methodology and number of subjects. Not all references are equally robust. The findings of a large, prospective, randomized, and blinded trial should carry more weight than a case report.
To help the reader judge the strength of each reference, pertinent information about the study, such as the type of study and the number of patients in the study are included in bold type following the references, where available. The most informative references cited in this paper, as determined by the authors, are noted by an asterisk (*) next to the number of the reference.
Pavan Judge, MD; Garth Meckler, MD, MSHS
May 2, 2016
June 1, 2019
4 AMA PRA Category 1 Credits™, 4 ACEP Category I Credits, 4 AAFP Prescribed Credits, 4 AOA Category 2-A or 2-B Credits. Specialty CME Credits: Included as part of the 4 credits, this CME activity is eligible for 0.5 Pharmacology CME credits
Upon completion of this article, you should be able to:
Date of Original Release: May 1, 2016. Date of most recent review: April 15, 2016. Termination date: May 1, 2019.
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