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Heart Disease in Children Richard U. Garcia, MD*, Stacie B. Peddy, MD KEYWORDS Congenital heart disease Children Primary care Cyanosis Chest pain Heart murmur Infective endocarditis KEY POINTS Fetal and neonatal diagnosis of congenital heart disease (CHD) has improved the out- comes for children born with critical CHD. Treatment and management of CHD has improved significantly over the past 2 decades, allowing more children with CHD to grow into adulthood. Appropriate diagnosis and treatment of group A pharyngitis and Kawasaki disease in pe- diatric patients mitigate late complications. Chest pain, syncope, and irregular heart rhythm are common presentations in primary care. Although typically benign, red flag symptoms/signs should prompt a referral to car- diology for further evaluation. INTRODUCTION The modern incidence of congenital heart disease (CHD) has been reported at 6 to 11.1 per 1000 live births.1,2 The true incidence is likely higher because many miscar- riages are due to heart conditions incompatible with life. The unique physiology of CHD, the constantly developing nature of children, the differing presenting signs and symptoms, the multiple palliative or corrective surgeries, and the constant devel- opment of new strategies directed toward improving care in this population make pe- diatric cardiology an exciting field in modern medicine. THE FETAL CIRCULATION AND TRANSITION TO NEONATAL LIFE Cardiovascular morphogenesis is a complex process that transforms an initial single- tube heart to a 4-chamber heart with 2 separate outflow tracts. Multiple and Disclosure Statement: All Authors take responsibility for all aspects of the reliability and freedom from bias of the information presented and their discussed interpretation. No conflict of interest, grants, or other financial support was received for this article. Division of Cardiac Critical Care Medicine, Departments of Pediatrics and Critical Care Medi- cine, The University of Pennsylvania and the Children’s Hospital of Philadelphia, 34th Street, Civic Center Boulevard, Philadelphia, PA 19104, USA * Corresponding author. E-mail address: [email protected] Prim Care Clin Office Pract 45 (2018) 143–154 https://doi.org/10.1016/j.pop.2017.10.005 primarycare.theclinics.com 0095-4543/18/ª 2017 Elsevier Inc. All rights reserved. 144 Garcia & Peddy overlapping signaling events make this possible and when the process deviates from normal, CHD occurs.3 The fetal circulation occurs in a parallel circuit. Because the source of oxygenation in fetal life is the placenta, only 10% of the combined cardiac output reaches the fetal lungs.4 Because of a mechanism of preferential blood flow streaming, the oxygenated blood coming back from the placenta bypasses the liver through the ductus venosum, enters the right atrium by the inferior vena cavae, and is streamed through the patent foramen ovale to the left atria, providing the brain with highly oxygenated blood. Only approximately 10% of the combined cardiac output goes through the aortic isthmus to the descending aorta. Fetal systemic venous return enters the right atrium through the superior and inferior vena cavae and streams toward the tricuspid valve to reach the pulmonary artery, subsequently crossing the patent ductus arteriosus almost in its entirety (approximately 50% of the combined cardiac output) to reach the placenta through the descending aorta.4 These unique characteristics of the fetal circulation allow for tolerance of complex heart disease like hypoplastic left heart syndrome in utero with minimal hemodynamic consequences. The extra utero circulation, however, occurs in parallel. Once a fetus takes that important first breath, a cascade of events leads to significant hemody- namic changes, making tolerance of complex CHD difficult. SCREENING FOR CONGENITAL HEART DISEASE: WHEN AND WHO? The etiology of CHD is multifactorial. Prenatal diagnosis of critical neonatal CHD affects neonatal morbidity and (to a lesser extent), mortality.5 Accurate prenatal diag- nosis also contributes to preservation of long-term neurocognitive function and outcome,6 highlighting the importance of accurate prenatal screening and prompt diagnosis. The risk for CHD in the general population is less than 1% and in this setting, fetal echocardiography screening is not recommended. If, however, the risk for CHD is greater than 3% (Table 1), fetal echocardiography should be performed. When the risk for CHD is estimated at 1% to 2%, fetal echocardiography can be considered, although the relative benefit of such additional testing in this population is not clear. In all cases, fetuses with an abnormal screening ultrasound of the heart should have a detailed fetal echocardiogram read by a trained examiner.5 Kemper and colleagues7 made recommendations for universal neonatal screening to diagnose critical CHD (CCHD). These recommendations included measurement of the percutaneous oxygen saturation in the right hand and feet between 24 hours to 48 hours of birth or just before discharge if a neonate leaves the hospital before 24 hours of life. A screen is positive screening if The oxygen saturation is below 90% in the right hand OR feet during 3 consec- utive measurements separated by 1 hour. The oxygen saturation is below 95% and above 90% in the right hand AND feet OR more than a 3% difference between the right hand and feet saturation during 3 consecutive measurements separated by 1 hour. The screen is negative if The oxygen saturation is above 95% in the right hand OR feet AND less than a 3% difference between the right hand and feet saturation at any point during 3 consecutive measurements separated by 1 hour. These recommendations were endorsed by American Academy of Pediatrics, the American College of Cardiology Foundation, and the American Heart Association Heart Disease in Children 145 Table 1 Common risk factors for congenital heart disease Absolute Risk, Percent of Live Level of Timing/Frequency of Risk Factors Births Evidence Evaluation Pregestational diabetes 3–5 I/A 18–22 wk. Repeat evaluation in third trimester if hemoglobulin A1c >6% may be considered Gestational diabetes, <1 III/B If hemoglobulin A1c >6%, hemoglobulin A1c <6% evaluation in third trimester to evaluate for ventricular hypertrophy Phenylketonuria 10–12 12–14 I/A 18–22 wk. Only if (preconception metabolic periconception control may affect risk) phenylalanine level >10 mg/ dL Vitamin K antagonists <1 III/B Not indicated Lupus or Sjo¨ gren syndrome 1–5 IIa/B 16 wk, then weekly or every only if SSA/SSB other wk to 28 wk autoantibody positive Lithium <2 IIb/B 18–22 wk first-trimester exposure Use of assisted reproduction 1.1–3.3 IIa/A 18–22 wk technology Maternal structural cardiac 3–7 I/B 18–22 wk disease Paternal structural cardiac 2–3 I/B 18–22 wk disease Sibling with structural 3 I/B 18–22 wk cardiac disease 8 for hypoplastic left heart syndrome Data from Donofrio MT, Moon-Grady AJ, Hornberger LK, et al. Diagnosis and treatment of fetal cardiac disease: a scientific statement from the American Heart Association. Circulation 2014;129(21):2183–242. (AHA) Council on Cardiovascular Disease in the Young and the screening algorithm added to the US Recommended Uniform Screening Panel in 2011. Any newborn with a positive screen and no clear clinical picture to explain the hypoxemia should be suspected of having CCHD and should undergo a diagnostic echocardiogram read by a pediatric cardiologist. Consultation with a pediatric cardiologist is recom- mended, when feasible, before obtaining the echocardiogram.7 Currently, screening for CCHD has been adopted in most developed countries. In the United States, 46 states and the District of Columbia include screening for CCHD as part of their routine newborn screening programs. Using this CCHD screening protocol, it is estimated that 875 infants with CCHDs are detected annually in the United States.8 The recommended protocol has a low sensitivity to detect coarctation of the aorta, a common cause of CCHD,9,10 necessitating the need to maintain vigilance for clinical signs and/or symptoms of CCHD, especially during the first weeks of life. 146 Garcia & Peddy DUCTAL-DEPENDENT CRITICAL CONGENITAL HEART DISEASE The ductus arteriosus functionally closes during the first 24 hours to 72 hours after birth. This is potentially after discharge from the newborn nursery. Patients with CCHD can, therefore, present to their primary care provider undiagnosed and with impending signs or symptoms of severe cyanosis or critical systemic hypoperfusion. These early signs and symptoms of CCHD are variable and nonspecific, including tachypnea, irritability, cyanosis, severe pallor, increased precordial activity, poor pe- ripheral pulses, prolong capillary refill, and feeding intolerance. If CCHD is suspected based on any of these parameters, prompt transport to an appropriate facility for fluid resuscitation, rapid initiation of intravenous prostaglandins, and early consultation with pediatric cardiology are important. ROUTINE WELL-CHILD CHECKUP: WHO NEEDS TO SEE A PEDIATRIC CARDIOLOGIST? Well-child visits provide an opportunity to follow patients closely over time. In the context of the patient-centered medical home, they provide an opportunity to detect signs or symptoms of heart disease affecting normal development. History During every routine visit, a detailed past medical history (including cardiovascular his- tory) and past family history should be obtained. Important cardiovascular symptoms include chest pain, syncope, palpitations,