Sudden Death in Children and Young People: Screening and Prevention Strategies

There is a growing movement to identify child and young adult athletes who may be at risk for sudden cardiac arrest (SCA) or sudden cardiac death (SCD) during sports.1–5 The sudden death of a young athlete is always tragic for family and community. However, the sudden death of a young non-athlete is no less tragic.

In today’s society, the non-athlete is much less visible due to the great attention paid to athletics in the non-professional press, which creates the perception that only athletes are at increased risk for sudden cardiac events. SCA and SCD in young people have been addressed in several articles that have focused their efforts on disease recognition as well as prevention.6-11

There have been numerous studies addressing preparticipation assessment , including whether electrocardiography (ECG) or other noninvasive testing should be added. 2–4,12,13 Several groups are currently studying the issue of using preparticipation ECG; To date, none have published conclusive data on their effectiveness, practicality of implementation, or cost.14

One of the most important people in both primary and secondary prevention models is the primary care provider (PAP), who manages children from infancy to late adolescence or even young adults and has a long-standing relationship with the child, family, and the community in general. PAPs are involved with pre-participation school screening and are often the ones called first when a cardiac symptom or cardiac arrest occurs.

The purpose of this article is to provide PAPs with a strategy for the detection, evaluation and management of the risk of SCA and SCD in youth, with updated practices and information.

As in the 2012 statement, "evidence-based recommendations are often designated as class I, II, or III, indicating the level of evidence that supports them. For pediatric PCS, the level of evidence does not allow for meaningful use of this." terminology." 8

This statement proposes that the same detailed screening that is used for athletes should also be applied to non-athletes.

The PAP encounter should separate patients into 2 basic groups, those with suspected or identifiable risk factors for PCS or SCD, which will be discussed later, and those without risk factors. For those with risk factors, the next step is referral to a pediatric cardiologist or electrophysiologist to initiate a comprehensive cardiovascular evaluation appropriate for the presenting risk factor. There are patients who, despite the best screening efforts, could still experience SCD; therefore, a secondary prevention plan is important.

Multiple studies have led to resuscitation methods, such as American Heart Association (AHA) basic life support, pediatric advanced life support, and advanced cardiac life support, with the "chain of survival" with reviews done every few years.15

Although out-of-hospital cardiac arrest survival statistics remain dismal, there has been an improvement in survival, most likely as a result of increased lay cardiopulmonary resuscitator (CPR) education, increased recognition of cardiac arrest, and an increase in the willingness to intervene of rescuers who have learned to perform high-quality CPR and use the automated external defibrillator (AED), assisted by an increase in public access to AEDs.16 The number of lay people with support training overall remains low.17 This highlights the important role of the PAP as a community advocate for more basic life support training.

The difficult task of identifying those at risk for cardiac events often begins with the PAP, including physicians, physician assistants, and nurse practitioners, through a routine physical examination or by addressing specific symptoms. Although there is no single screening method to identify everyone who is at risk, it is helpful for the PAP to understand the common conditions that put young patients at risk for PCS and SCD.

A primary cardiomyopathy is generally associated with an anatomically normal heart with abnormal myocardial cell structure or function that can affect both systolic and diastolic function. The World Health Organization and the International Society and Federation of Cardiology Task Force recognizes 5 basic forms of cardiomyopathy18:

1. Dilated cardiomyopathy : enlarged, dilated left and/or right ventricle, with or without decreased systolic function.

2. Hypertrophic cardiomyopathy (HCM): abnormally thickened ventricular myocardium without cause (for example, hypertension, coarctation, aortic stenosis, etc.). HCM is reported to be the most common cause of SCA and SCD in young athletes.19

3. Restrictive cardiomyopathy : normal to thickened ventricular walls and normal ventricular size with impaired diastolic function and often dilated atria.

4. Arrhythmogenic cardiomyopathy (includes arrhythmogenic right ventricular cardiomyopathy [ACM]): enlarged, dilated right ventricle with or without decreased systolic function often associated with frequent arrhythmias (can be seen in the left ventricle as well).

5. Unclassified cardiomyopathies : These include left ventricular noncompaction (left ventricular myocardium is abnormal with hypertrabeculation and crypt formation of the left ventricular wall with thickened, normal, or thinned and dilated myocardium with or without impaired systolic function ).

The potential for life-threatening arrhythmias is a unifying factor for all of these cardiomyopathies.

The morphological differences are significant between each type of cardiomyopathy and, therefore, the images (echocardiography, magnetic resonance, etc.).

Channelopathies are generally identified in patients who otherwise have normal cardiac anatomy and function. The defect involves ion channels in the cardiac cell membrane or in intracellular proteins that interact with ion transport and can result in identifiable abnormalities on the ECG. Imaging is not useful in diagnosing channelopathy except to exclude cardiomyopathy as the etiology of a cardiac event. Primary channelopathies include the following:

1. Long QT syndrome (LQTS): prolongation of the corrected QT interval (QTc) with abnormalities in T wave morphology, some of which are associated with specific genotypes. Sudden infant death syndrome (SIDS) may be attributable to LQTS in approximately 10% of cases.20

2. Short QT syndrome : extremely rare condition with abnormal shortening of the QTc with prominent, pointed T waves.

3.  Brugada syndrome (BrS): associated with a high, curved ST elevation in ECG leads V1 and V2. Specific Brugada T wave morphologies may indicate an elevated risk of cardiac arrest.

4. Catecholamine polymorphic ventricular tachycardia (CPVT): Resting ECGs in these patients are almost always normal. CPVT is mostly identified with exercise testing that results in increased ventricular ectopia and even polymorphic ventricular tachycardia (VT).

5. Idiopathic ventricular fibrillation (VIF): Patients presenting with ventricular fibrillation (VF) in whom known cardiac, respiratory, metabolic, and toxicological diseases have had their etiologies excluded through clinical evaluation. The term FVI is used when cardiac arrest remains unexplained despite this investigation.

When you have been diagnosed or suspected LQTS or BrS, it is important to check for potential contraindications any new medications, such as antibiotics, antifungals, or stimulants for attention deficit/hyperactivity disorder (for LQTS, use https://Crediblemeds.org, and for SBr, use www.brugadadrugs.org/avoid/). The PAP should take into account that, for patients with BrS, fever can trigger cardiac events.

Patients with congenital heart defects, including those that have been surgically repaired or palliated, are at risk for arrhythmias. Risk factors in this population are often a result of surgical scarring, ongoing hemodynamic abnormalities, residual lesions, or decreased ventricular function.21,22

The most common association of PCS and congenital heart disease is VT. However, atrial arrhythmias can also cause PCS or SCD if the tachycardia rate is fast enough and rapid atrioventricular conduction occurs.

Wolff-Parkinson-White syndrome (ventricular preexcitation) on the ECG indicates that there is at least 1 accessory pathway leading anterograde from the atrium to the ventricle. These pathways are most commonly known to cause supraventricular tachycardia.

Rarely, atrial fibrillation in the presence of Wolff-Parkinson-White syndrome may result in VF as a result of rapid conduction of atrial impulses under the accessory pathways to the ventricles. Criteria based on studies of adults define high-risk roads depending on how fast the road can lead.23-26

The previous theory that patients with intermittent preexcitation on the ECG would be at low risk for SCA or SCD does not appear to be true for symptomatic pediatric patients.27 Consultation with a pediatric electrophysiologist should be considered in all cases of Wolff-Parkinson pattern. White on an ECG, regardless of the presence or absence of symptoms, to assist in risk stratification and potentially consider a curative ablation procedure.

Commotio cordis is the term applied to a sudden impact to the chest that causes VF and results in SCA or SCD without evidence of cardiac damage.28

Commotio cordis is, perhaps, one of the most worrying of all sudden death conditions because it occurs in children with completely normal hearts from both a structural, molecular and ion channel point of view. The impact is most often from a blunt object such as a ball, fist, elbow or helmet.

Baseball is the sport with the highest frequency of commotio cordis events. For primary prevention, there is some evidence that some breast protectors may reduce the incidence of commotio cordis.29

If there is no heart disease identified in survivors of commotio cordis after a complete cardiac evaluation, they may return to participation in sports.30 Prompt recognition of commotio cordis with initiation of CPR and defibrillation are important for survival, although some victims of commotio cordis do not survive despite prompt initiation of resuscitation.

In multiple studies of the causes of sudden death, a coronary artery anomaly ranks second only to HCM.19 Outside of the neonatal period, when an anomalous left coronary artery from the pulmonary artery is typically identified, detection of an anomaly Coronary artery disease can be difficult because it is rare and often has no symptoms until PCS develops, usually in adolescence.

A high index of suspicion is recommended for patients with syncope or atypical chest pain.

Typical chest pain most commonly represents musculoskeletal pain. Atypical chest pain is pain that raises the alarm for an underlying cardiac cause and is not usual or typical pain.

Echocardiography can often be used to identify abnormal origins or courses of the proximal coronary arteries, but computed tomography, MRI, or coronary angiography may be more definitive. The ECG in a newborn with anomalous left coronary artery of the pulmonary artery usually has deep, wide Q waves in I and aVL. For other coronary abnormalities, the ECG is usually normal at rest. Treatment is surgical unroofing or reimplantation of the anomalous coronary artery.

Patients with aortopathies, such as Marfan syndrome, thoracic aortic aneurysm and familial dissection, bicuspid aortic valve with aortic dilation, Loeys-Dietz syndrome, and Ehler-Danlos syndrome, are at increased risk for aortic dilation and dissection. Patients often have no symptoms, but there is often a family history of aortic dilation or dissection.

Aortic rupture or dissection accounts for 2% of deaths in athletes.13 There is evidence that isometric exercise, exercise that uses the Valsalva maneuver, or that suddenly increases blood pressure, leads to extraordinary stress on the wall in the aorta and should be avoided.31 Collision sports should be avoided.

The objectives of any screening program need to be clear whether they are expected to identify any cardiac condition, regardless of how significant, or only target those defects associated with PCS and SCD.

A complete personal history, family history, and physical examination are the cornerstone of screening for all children and youth.

The AHA recommends a 14-point history and physical examination for athletic participation commonly known as the preparticipation evaluation (PPE).

A positive response to any of the 14 items may trigger the need for cardiovascular evaluation at the discretion of the PAP. This projection has a tendency to detect heart problems regardless of their significance.

ECG screening has been shown to detect some cardiac lesions that pose a risk for PCS and SCD, as well as others that do not pose a risk for PCS and SCD or require restriction from athletic participation.32,33 Limitations remain because ECG Normal resting conditions would also not be able to detect life-threatening heart conditions, such as CPVT.

> It is recommended that the focus of screening should be the prevention and identification of people at risk for SCA and SCD

In a 2012 statement, the American Academy of Pediatrics (AAP) recommended 4 questions directed toward screening for SCA and SCD for which a positive response suggested an increased risk of SCA and SCD.8 Similar to the Screening Question Tool According to the AHA, the AAP 4 questions are based on expert opinion. In contrast to the AHA tool, the AAP tool is intended to be used on all children regardless of athletic participation.

Modifications have been made to these 4 questions with wording that can be applied directly to a family questionnaire. The PAP, at its discretion, may find that a positive response may be a significant signal to perform a cardiovascular evaluation. The fifth edition of the AAP publication Preparticipation Physical Assessment noted that the AAP recommends comprehensive annual health supervision from ages 6 to 21 by physicians, nurse practitioners, or physician assistants with clinical training described by law.

The goal of integrating PPE into the point of care may be more easily achieved if the PPE portion of the screening is addressed every 2 to 3 years, rather than annually, to allow for a different approach to the evolving child and risk. of adolescents at each visit.34

It is recommended that PCS and MSC screening should be performed for all children (athletes or non-athletes) at the same time as the EPP screening or at a minimum every 3 years or upon entering middle school or high school. Depending on family and PAP concerns, more frequent screening may be appropriate.

The 4 modified questions, also based on expert opinion, are the following:

1. Have you ever fainted, or had an unexplained seizure suddenly and without warning, especially during exercise or in response to sudden noises, such as doorbells, alarm clocks, and ringing phones?

2. Have you ever had exercise-related chest pain or shortness of breath?

3.  Do you have anyone in your family environment (parents, grandparents, siblings) or other more distant relatives (aunts, uncles, cousins) who died of heart problems or had a sudden unexpected death before age 50? This would include unexpected drownings, unexplained car crashes in which the relative was driving, or SIDS.

4.  Are you related to someone with HCM or obstructive hypertrophic cardiomyopathy, Marfan syndrome, ACM, LQTS, short QT syndrome, BrS, or CPVT or anyone under 50 years of age with a pacemaker or implantable defibrillator?

> What should be done with the child who has a positive screening finding or whose parents requested an ECG and were found to have an ECG abnormality?

A positive answer to the above 4 questions or an ECG abnormality should indicate further investigation which may include referral to a pediatric cardiologist or pediatric electrophysiologist.

The pediatric electrophysiologist has a better understanding of suspected channelopathies or arrhythmias and will recommend testing as needed. Ideally, the child with a positive response to these questions should be kept out of athletic participation until the cardiovascular evaluation is complete.

> What to do when a child has cardiac arrest

When a child has cardiac arrest, secondary prevention efforts, including resuscitation, are required. Prompt recognition of cardiac arrest with high-quality CPR and defibrillation are the main determinants of survival, with survival reduced by 10% with each minute delay in CPR and AED administration.35

The AAP and AHA support efforts to improve survival through early recognition of symptoms, use of 911 or emergency medical services (EMS), effective bystander CPR, and deployment and use of AEDs in the community.

Bystander CPR improves response time to defibrillation, can more than double survival to hospital discharge, and leads to improved neurological outcome.36 Unfortunately, only 20% to 30% of people who experience out-of-hospital cardiac arrest receive bystander CPR or defibrillation, and bystander CPR may be suboptimal.37

Annual CPR training rates in the United States are low, with only 4% of the US population trained.17 CPR and AED training is recommended as a high school graduation requirement. To support this effort, school-based CPR training programs are available from the World Health Organization and the AHA.38,39

> Assessment of the victim or survivor of cardiac arrest

A comprehensive evaluation of cardiac arrest survivors should be performed under the direction of a cardiologist with experience in conditions associated with PCS and SCD.

If a clinical phenotype is suspected or proven, targeted genetic testing may be indicated. In the SCD survivor, genetic testing should be guided by the results of medical evaluation. The results can be used for individual diagnosis, treatment, and screening of family members at risk for subclinical disease. 40

Genetic test results should be interpreted in consultation with a doctor specializing in hereditary arrhythmia conditions, a doctor specializing in genetics, and/or a genetic counselor.

> What to do when a child cannot be resuscitated

SCD occurs in approximately 2,000 patients younger than 25 years (excluding SIDS deaths) each year in the United States.41

Autopsies of young people who have suffered SCD have shown that a structural cardiac cause (HCM, congenital heart anomalies, and myocarditis) is present in the majority of patients; however, the cause remains unexplained in a significant proportion (6% to 40%). 42-45

Unexplained SCD is usually attributed to cardiac arrhythmia caused by cardiac ion channel dysfunction, which is undetectable at conventional autopsy. The diagnostic yield in families is 4 times higher when there is an SCD survivor compared to those in whom there was an SCD.46

When SCD occurs, evaluation of cardiac anatomy by a trained physician at the time of autopsy is important. For individuals who do not survive and have no apparent previously identified cause or diagnosis at conventional autopsy, especially if clinical evidence points toward a diagnosis of LQTS or CPVT, a targeted molecular autopsy is recommended.47

Genetic test results should be interpreted in consultation with a doctor specializing in hereditary arrhythmias, a doctor specializing in genetics, and/or a genetic counselor.

The etiologies of SIDS are varied, with the majority of cases attributable to non-cardiac causes. Therefore, SIDS victims do not necessarily require rigorous cardiac genetic evaluation unless the circumstances at the time of death or family history suggest an arrhythmic death.

After cardiac arrest, communication between the healthcare team and the family can have a significant effect on pain response. The initial reaction is often shock, followed by other emotional reactions, including anger, guilt, depression, rage, apathy, and loneliness.48

It is important to prepare the family for the process that follows the death (post-mortem examination, referral to the examining or forensic doctor, registration of the death).49

Asking questions and receiving information about the cause of death is important for families.48 Blaming oneself for not saving the family member’s life is common, and therefore, reassurance is key to alleviating guilt.48

PCS survivors are at risk for post-traumatic stress disorder.50 It may be helpful to provide information about grief support groups. The Life After PCS Project provides resources to help survivors and their loved ones return to living happy, healthy, and fulfilling lives.51

Parent Heart Watch is a group of parents whose children have experienced PCS and can provide unique support to grieving families.

Many of the cardiovascular diseases that put young individuals at risk of death have a familial inheritance pattern.

Screening of relatives provides the opportunity to identify people at risk and initiate management.40 It is important to note that, in the absence of a diagnosis in the affected individual, cascade screening of first-degree relatives improved diagnostic performance Of the tests. Detailed cardiovascular evaluation of first-degree relatives and relatives of PCS and SCD has shown that 22% to 30% of these families have evidence of hereditary heart disease. 52.53

Steinberg et al reported that 18% of surviving family members of victims of PCS and unexplained SCD reported one or more cardiac symptoms in a first-degree relative of the index patient.52 Based on these findings, it has been recommended that first-degree relatives Family members of patients with SCA and SCD are informed of the potentially increased risk. An evaluation should be offered at a center with experience in the diagnosis and management of inherited heart diseases.40

The initial battery of tests for first-degree relatives usually includes a visit to a pediatric cardiologist or electrophysiologist, an ECG, an exercise stress test (if you are old enough to exercise), and an echocardiogram. It is reasonable to request molecular genetic testing of the victim after PCS. If the variant that caused the disease in the victim is identified, a cascade of molecular and clinical screening of family members is indicated.40

The cascade investigation means an evaluation beginning with the first-degree relatives of the PCS victim. Depending on the results of those screening tests, other family members may need testing.

Electronic implantable cardiovascular devices can store substantial amounts of diagnostic data related to arrhythmia documentation.54

• Pacemakers are electronic devices that stimulate the heart with electrical impulses to maintain or restore a normal rhythm in people with slow heart rhythms. Pacemakers can be programmed to record abnormal rhythms, but they cannot provide a shock to restore sinus rhythm during an arrhythmia.
   
• Implantable cardioverter-defibrillators (ICDs) have pacemaker functions, but are also capable of providing treatment for tachyarrhythmias, including VT and VF. Therapy may involve an overdrive of the pacemaker or a shock that restores sinus rhythm. Interrogation of an ICD is important after a shock because the arrhythmia being treated will register with the therapy and the post-shock rhythm.
   
• An implantable loop recorder (IBR) is a small device implanted under the skin that can store ECG recordings of the heart rhythm. An RBI can be programmed to automatically record when the patient’s heart rate deviates outside the range that is chosen by the doctor. The patient can also activate an RBI to record during symptoms. RBIs cannot provide treatment.

AEDs can accurately detect VF in children of all ages and differentiate shockable from non-shockable rhythms with a high degree of sensitivity and specificity.55

For children from birth to 8 years of age, it is reasonable to use a pediatric dose-attenuating AED system and a pediatric pad to reduce the energy delivered if one is available; If not, the rescuer should use a standard AED.55 Current AHA guidelines do not recommend compression-only CPR for young children.56

On any given day, up to 20% of American adults and children can be found in schools. Therefore, school nurses, sports coaches, and teachers are often required to provide emergency care during the school day and for extracurricular activities, including sports.57 A cardiac emergency response plan (CREP) is needed. to facilitate an efficient structure and response to the PCS. The essential elements of a PREC include the following:

1. Establish an effective communication system.

2. Advance training of responders in the use of CPR and AED.

3. Access to an AED for early defibrillation.

4. Acquisition of the necessary emergency equipment.

5. Coordination and integration of on-site response programs and AED with the local EMS.

6.   Practice and review of the response plan.58

This plan should aim for an EMS call time from collapse <1 minute, provision of first aid and CPR when appropriate, and a time from collapse to first shock <3 minutes for PCS if an AED is in place. place.

The PAP and pediatric cardiologist can have a great impact by advocating that schools and school districts not only have sufficient numbers of AEDs, but also that staff are continually well trained, equipment is maintained, and that a PERC is in place. its place.

Many states have passed legislation requiring CPR and/or AED training for students to graduate from high school or as part of the health curriculum.60 The task force supports efforts through local legislation or partnerships. state schools to make CPR and/or AED training a requirement for students to graduate from high school.

Licensed Athletic Trainers (EDL) are school-based health care professionals who collaborate with the health care team. EDL services include prevention, emergency care and therapeutic intervention.61

The EDL must be able to determine the athlete’s readiness to participate and, if necessary, consult with the supervising team physician and/or treating physician. They also play an important role in identifying unsafe play facilities or environments as well as developing and implementing an emergency action plan in collaboration with the team’s supervising physicians.61

EDLs can be important promoters of CPR and training in the use of AEDs and for the placement of AEDs in public areas, including schools, sports fields, and stadiums.

The AHA and others have issued recommendations for aerobic and resistance training in children and adolescents.62 These recommendations are based on findings that regular physical activity reduces the risk of long-term adverse health outcomes. There is evidence that levels of cardiovascular risk factors in childhood predict early subclinical atherosclerosis and cardiac pathology and adult morbidity and mortality.63

Encouraging patients who have suffered cardiac arrest to have a healthy lifestyle including exercise may be beneficial. Exercise restriction must be balanced with the potential for lifelong risk of PCS and SCD and the development of other conditions associated with cardiovascular risk.

To facilitate a safe return to exercise, these patients may benefit from a medically supervised cardiac rehabilitation program.

Some patients, including athletes, who have suffered cardiac arrest from VT or VF from a cause that cannot be reversed or managed well with other means (eg, medication) should undergo a thorough evaluation with strong consideration of placement. of the CDI.64

There are specific recommendations for those desiring athletic participation with CDIs under the advice of the patient’s pediatric electrophysiologist. Recommendations include returning to low-level dynamic activities and static activities (e.g., golf, bowling, etc.) after 3 months of being free of VT or VF requiring device therapy.65

Higher intensity activities may also be considered in discussion with the patient and family in a risk-sharing arrangement after 3 months without VT or VF device therapy.65 The patient should be counseled about the increased risk of heart shock. CDI as well as device-related trauma when participating in activities that risk affecting the device.65

Patients who have suffered cardiac arrest from a reversible cause, such as myocarditis or electrolyte abnormality, often do not have an implanted ICD. The most recent recommendation suggests refraining from sports until a reevaluation is approved in the third month and with the advice of the pediatric cardiologist or electrophysiologist. If the condition causing cardiac arrest has completely resolved, the athlete can return to competition.65

PAPs, as preeminent providers of children’s health care, should be aware of clinical history, family history, and physical examination characteristics suggestive of risk for SCA and SCD.

1. All children should be evaluated for conditions that predispose to PCS and SCD in the course of routine medical care.14

2. A complete and detailed history, family history, and physical examination are necessary to begin evaluating the risk of PCS and SCD.

3. The ECG should be the first test ordered when there is concern for risk of PCS. The ECG should be interpreted by a physician trained in the recognition of electrical heart disease (i.e., a pediatric cardiologist or pediatric electrophysiologist). To provide optimal care, ECGs should not be performed in isolation, without clinical history; Referral to a specialist should be considered. Computer interpretation of the ECG should not be relied upon.

Recognizing that no single screening strategy is capable of detecting all conditions associated with SCA (primary prevention), it is important to advocate for emergency action plans (secondary prevention) and CPR training in the community. CPR and AEDs are effective for secondary prevention of SCA.

PCS survivors (and family members of PCS or SMC victims) should have a thorough evaluation to evaluate the potential for a genetic etiology. Some facilities have specialized centers for PCS.

A pediatric PCS center is a multispecialty pediatric medical facility with expertise in pediatric electrophysiology and hereditary channelopathies and cardiomyopathies. This evaluation includes not only molecular genetic testing, but also genetic counseling to identify others who may be at risk.66

The strategy outlined in this statement emphasizes the importance of sudden death awareness and prevention that includes all young people regardless of their athlete status. The emphasis shifts from focusing on a single group to expand the concepts of primary and secondary prevention to a group that can achieve similar benefits.

There have been many efforts made and published on ways to identify those at risk for SCA and SCD, including clinical history and physical examination, genetic and ECG screening. Many PCS and SCD victims cannot be identified before their event, even with testing. Therefore, secondary prevention efforts should not be overlooked by those evaluating large numbers of pediatric patients.

Although focusing prevention efforts on all children may seem to create a burden on PCPs by expanding the screening program to more patients, simplification to the 4th question mentioned above may allow this screening to be incorporated into the routine visit every a minimum of 3 years. This strategy is intended to increase awareness of SCD prevention in young people and will enable a healthy lifestyle and reduce the risks of SCD and SCD.