ETIOLOGYIn many cases of SCA/SCD, the cause is not identified.

In a
prospective study of 490 cases of SCD in children and young adults, 40 percent were
unexplained [6].

When an etiology is identified, common causes include [6,8,13]:

●Primary arrhythmia/channelopathy (22 percent), including:

•Long QT syndrome (see "Congenital long QT syndrome: Epidemiology
and clinical manifestations", section on 'Clinical manifestations')
•Wolff-Parkinson-White syndrome (see "Wolff-Parkinson-White syndrome:
Anatomy, epidemiology, clinical manifestations, and diagnosis")
•Brugada syndrome (see "Brugada syndrome: Clinical presentation,
diagnosis, and evaluation")
•Short QT syndrome (see "Short QT syndrome")
•Catecholaminergic polymorphic ventricular tachycardia
(see "Catecholaminergic polymorphic ventricular tachycardia")
●Myocarditis (7 to 35 percent). (See "Clinical manifestations and diagnosis of
myocarditis in children".).
●Cardiomyopathy (16 to 20 percent), including hypertrophic cardiomyopathy,
dilated cardiomyopathy, and arrhythmogenic right ventricular cardiomyopathy.
(See "Definition and classification of the cardiomyopathies" and "Hypertrophic
cardiomyopathy in children: Clinical manifestations and
diagnosis" and "Familial dilated cardiomyopathy: Prevalence, diagnosis and
treatment" and "Arrhythmogenic right ventricular cardiomyopathy: Anatomy,
histology, and clinical manifestations".)
●Congenital heart disease (CHD) (15 percent), such as tetralogy of Fallot,
hypoplastic left heart syndrome, and transposition of the great arteries.
(See "Cardiac causes of cyanosis in the newborn" and "Identifying newborns
with critical congenital heart disease".)
●Premature coronary artery disease was reported in some case series that
included young adults (ie, 30 to 35 years old); however, this is an uncommon
cause of SCA/SCD in patients <25 years old.
●Other cardiac disorders (4 to 8 percent), including coronary arteritis, anomalous
origin of coronary arteries, aortic dissection, pulmonary hypertension, and mitral
valve prolapse. However, the relationship between mitral valve prolapse and
sudden cardiac disease is uncertain. (See "Arrhythmic complications of mitral
valve prolapse", section on 'Sudden cardiac death' and "Congenital and pediatric
coronary artery abnormalities".)
●Unspecified cardiac disease (7 percent).

Causes of SCA/SCD vary somewhat by age [8]. In young children (<2 years old),
CHD is a major cause, while primary arrhythmia and myocarditis are less common. In
adolescents and young adults, primary arrhythmia, cardiomyopathy, and myocarditis
are more common and CHD is a less common cause of SCA/SCD. Premature
atherosclerotic coronary artery disease is an uncommon cause of SCA/SCD in
patients <25 years old. However, children and adolescents can have coronary disease
from Kawasaki disease or anomalous origin of the coronary arteries, which may cause
SCD. (See "Cardiovascular sequelae of Kawasaki disease: Management and
prognosis"and "Congenital and pediatric coronary artery abnormalities".)
The etiology of SCA/SCD in young competitive athletes may differ somewhat from
the general population. This is discussed separately. (See "Athletes: Overview of
sudden cardiac death risk and sport participation", section on 'Etiology of sudden
death'.)

WARNING SIGNS
Symptoms — Although SCA/SCD is often the initial presenting event, retrospective
studies have shown that warning signs or symptoms (eg, chest pain, fatigue,
and syncope/lightheadedness) were noted by one-quarter to more than one-half of
affected individuals prior to SCA/SCD [13-15]. The most common symptoms were
chest pain and syncope/presyncope. Other symptoms included dizziness, palpitations,
or dyspnea. It is important to note that these studies did not include matched controls,
and that these symptoms are also prevalent in the general population. In addition,
many patients (25 to 61 percent) had a family history of premature unexpected death
in other family members [14,15].

In a study based on surveys completed by parents of 86 children and young adults

(<30 years old) with SCA, at least one prior cardiovascular symptom was reported by
70 percent of respondents [15]. Fatigue (44 percent) and
near syncope/lightheadedness (30 percent) were the most common complaints with
onset of symptoms on average 30 months prior to SCA. In addition, 24 percent of
SCA victims had one or more events (average number 2.6) of syncope or unexplained
seizure-like activity that remained undiagnosed before SCA. In approximately 40
percent of cases, the symptom was brought to the attention of the child's clinician, and
27 percent of families reported a history of a family member who had suffered SCD
before 50 years of age.

ECG findings — Electrocardiograms (ECGs) are obtained in children for a variety of

reasons (evaluation of concerning symptoms, screening prior to starting certain
medications, screening prior to sports participation). A high-quality 12-lead ECG,
with standard paper speed and amplitudes, is necessary to make accurate
measurements and avoid artifact in ECG interpretation. It is important to recognize
potentially pathologic ECG findings and distinguish them from findings that are
generally benign. Though the distinction can often be made by the non cardiologist,
consultation with a pediatric cardiologist may be warranted.

ECG findings that warrant further evaluation (which, depending on the finding, may
include review of the history and physical examination, echocardiography,
ambulatory ECG monitoring, exercise stress test, cardiac magnetic resonance
imaging, and/or or genetic testing) include the following [16]:

●Prominent/abnormal Q waves – Q waves >3 mm in depth and/or >40 ms

duration in at least two leads are characteristic findings for hypertrophic
cardiomyopathy (waveform 1). (See "Hypertrophic cardiomyopathy in children:
Clinical manifestations and diagnosis", section on
'Electrocardiography' and "Hypertrophic cardiomyopathy: Clinical
manifestations, diagnosis, and evaluation", section on 'Electrocardiography'.)
●Wide QRS – Conduction delay with a QRS duration >90 ms in children <4
years old, >100 ms in children 4 to 16 years old, and >120 ms in adults.
(See "Left bundle branch block", section on 'Electrocardiographic
 findings' and "Causes of wide QRS complex tachycardia in children", section on
'Supraventricular tachycardia'.)
●ST elevation/depression and T wave inversion – ST elevation >2 mm, ST
depression >0.5 mm, and T wave inversions can be seen in patients with
myocardial ischemia. T wave inversions may also be a sign of ventricular
hypertrophy. (See "ECG tutorial: ST and T wave changes".)
●QT abnormalities – For accurate assessment, the QT interval should be
corrected for heart rate (QTc interval) by a standardized method. The computer-
derived QTc should be confirmed or corrected manually. QT abnormalities are
suggestive of ion channel abnormalities either due to mutations or exposure to
specific medications (waveform 2). (See "Congenital long QT syndrome:
Diagnosis", section on '12-lead ECG' and "Short QT syndrome", section on
'Electrocardiographic findings' and "Acquired long QT syndrome: Definitions,
causes, and pathophysiology".)
●Delta waves – Delta wave (slurring of the initial QRS and a short PR interval
[<120 ms]) is associated with Wolff-Parkinson-White syndrome (waveform 3).
(See "Wolff-Parkinson-White syndrome: Anatomy, epidemiology, clinical
manifestations, and diagnosis", section on 'Electrocardiographic findings'.)

Benign ECG findings (eg, sinus bradycardia, sinus arrhythmia, first-degree

atrioventricular block, incomplete right bundle-branch block, early repolarization, and
voltage criteria for left ventricular hypertrophy) are common in young people
(especially trained athletes) and generally do not require further evaluation [16,17].
(See "Athletes with arrhythmias: Electrocardiographic abnormalities and conduction
disturbances".)

DROWNING AND SUDDEN INFANT DEATHSCD should be

considered in cases of drowning and sudden unexplained infant death [18]. In these
settings, it is important to review the family history to see if there are any family
members who died unexpectedly before the age of 50 years to ascertain if further
testing (including genetic screening) is indicated. These issues are discussed in greater
detail separately. (See "Drowning (submersion injuries)" and "Sudden unexpected
infant death including SIDS: Initial management".)
DIFFERENTIAL DIAGNOSISIn cases of SCA/SCD, prodromal signs or
symptoms including chest pain, syncope/presyncope, dyspnea, and seizure-like
activity are often reported. These nonspecific symptoms are frequently thought to be
due to other conditions, which can be differentiated from the underlying cardiac
disorder by clinical manifestations or tests.
●Syncope – In children, the most likely cause of syncope or presyncope is
neurocardiogenic syncope, also referred to as vasovagal syncope. Vasovagal
syncope is often triggered by pain or fear and is commonly accompanied by
premonitory symptoms before collapse, such as lightheadedness, dizziness,
diaphoresis, nausea, and tunnel vision. In contrast, syncope associated with SCA
generally occurs without warning or during exercise, or is associated with chest
pain or palpitations.
Other less common causes of pediatric syncope include migraine headaches,
seizures, and brain tumors. These conditions, like vasovagal syncope, are
associated with prodromal symptoms, or in the case of seizures, a postictal state
and incontinence. The causes and evaluation of pediatric syncope are discussed
separately. (See "Causes of syncope in children and
 adolescents" and "Emergency evaluation of syncope in children and
adolescents", section on 'Evaluation'.)
●Seizure – Seizures may be difficult to distinguish from SCA. The myoclonic
movements due to cerebral hypoxia in patients with SCA generally occur after
the initial collapse, whereas in individuals with seizures, body movements begin
concurrently with loss of postural tone and collapse. However, this clinical
distinction may be difficult to ascertain. As a result, we suggest that the
evaluation of children with seizure-like activity include electrocardiography
(ECG) and possibly an echocardiogram. (See "Clinical and laboratory diagnosis
of seizures in infants and children".)
●Chest pain – Chest pain is a common finding in children and generally is due
to musculoskeletal conditions, such as costochondritis or trauma. In contrast,
cardiac disease is an uncommon cause of chest pain [19]. Chest pain is almost
never present with patients with primary electrical disorders, but may be present
in patients with cardiomyopathies or abnormalities of the coronary arteries or
aorta [18]. Cardiac disease is more likely if chest pain occurs during exertion, is
recurrent, or is accompanied by palpitations or syncope. The approach to
evaluation of chest pain in children is discussed separately. (See "Nontraumatic
chest pain in children and adolescents: Approach and initial management".)
●Respiratory difficulties/dyspnea on exertion – Common noncardiac causes of
respiratory symptoms in children include asthma, bronchiolitis, and pneumonia.
Patients with cardiomyopathy, structural heart disease, and arrhythmia may
present with respiratory difficulties, particularly dyspnea on exertion. Exercise-
induced bronchospasm associated with cardiomyopathy is generally
unresponsive to bronchodilator therapy, which differentiates it from asthma.
Cardiopulmonary exercise testing can help differentiate cardiac from pulmonary
limitation of functional capacity, particularly when the cause is unclear from the
history and physical examination. Causes of respiratory distress and the
assessment of children who present with respiratory difficulties are discussed in
greater detail separately. (See "Causes of acute respiratory distress in
children" and "Initial assessment and stabilization of children with respiratory or
circulatory compromise".)
PREVENTIVE STRATEGIESPreventive strategies to reduce SCD are
divided into primary and secondary prevention [18]:
●Primary prevention aims to identify the at-risk individuals prior to SCA in order
to intervene and prevent SCA and SCD.
●Secondary prevention strategies focus on treating children who have suffered
SCA in order to improve the likelihood of survival after the event and to prevent
subsequent episodes of SCA.

Primary prevention (screening)

Approach to screening — The optimal screening approach for primary prevention of

SCD is uncertain. Based on the available data, we suggest screening for cardiac
diseases associated with SCA and SCD using a detailed history and physical
examination alone, without the routine use of additional testing (eg,
electrocardiography [ECG]). The one exception is universal pulse oximetry screening
for critical congenital heart disease in newborns. (See "Newborn screening for critical
congenital heart disease using pulse oximetry".)
Our approach is consistent with the recommendations of the American Heart
Association (AHA) and the American Academy of Pediatrics (AAP) [18,20,21].

Key components of screening include [18]:

●Recognizing the warning signs and symptoms of SCA. (See 'Warning

signs' above.)
●Obtaining a comprehensive and accurate history of any family member who
died unexpectedly before the age of 50 years.
●Using standardized preparticipation athletic evaluation to minimize unnecessary
variation. (See "Sports participation in children and adolescents: The
preparticipation physical evaluation", section on 'Evaluation forms'.)
●Referring any patient or family with known or suspected cardiac disorders to a
pediatric cardiac center for further evaluation that may include ECG,
echocardiography, cardiac magnetic resonance imaging, exercise testing, and
genetic testing. (See "Suspected heart disease in infants and children: Criteria for
referral".)

Observational data and simulation model studies suggest that the most cost-effective
initial screening for children and adolescents for cardiac disease is a detailed history
and physical examination alone. The addition of ECG does not appear to be cost-
effective as a screening test. (See 'Method of screening' below.)

For competitive athletes, including adolescents, there is controversy on the best

approach for screening to prevent SCD. In the United States, screening based on
history and physical examination alone is recommended. Screening to prevent SCD
for competitive athletes is discussed separately. (See "Screening to prevent sudden
cardiac death in athletes".)

In newborns, there is evidence that universal screening with pulse oximetry during the
birth hospitalization is effective for detecting critical congenital heart disease. This is
discussed in greater detail separately. (See "Newborn screening for critical congenital
heart disease using pulse oximetry".)

Routine health care visits — We suggest all children have regular cardiovascular
assessments performed throughout childhood during routine health care visits [18].
We prefer universal screening rather than a selective screening approach based on
preparticipation sports assessment, since many children do not participate in
organized sports and would be omitted in a selective approach.

The assessment includes reviewing the history (including family history) and a
detailed cardiovascular exam. Important aspects of the history and physical
examination may change over time in children at risk for SCA. For example, the
family history may evolve (ie, a new family member may be affected) and symptoms
of some cardiac conditions (eg, hypertrophic cardiomyopathy) may not present until
adolescence.

The history focuses on the following:

●History of syncope, near-syncope, or seizure

●Exercise-induced chest pain or shortness of breath
 ●History of sudden unexpected, unexplained death in a family member before 50
years of age
●Family history of cardiac disease associated with sudden death including
hypertrophic cardiomyopathy, Marfan syndrome, arrhythmogenic right
ventricular cardiomyopathy, long QT syndrome, short QT syndrome, Brugada
syndrome, or catecholaminergic polymorphic ventricular tachycardia [22,23]

Retrospective studies have shown that many children who experience SCA have
prodromal warning signs and symptoms and/or have a family history of sudden
and unexpected death of a family member before the age of 50 years.
(See 'Warning signs' above.)

The physical examination includes measurement of blood pressure and resting heart
rate, and cardiac auscultation to assess rate and rhythm of the heart and detect
murmurs and other abnormal heart sounds. Physical findings suggestive of underlying
cardiac disease include tachycardia, elevated blood pressure, and abnormal heart
examination (eg, heart murmur), which are discussed in detail elsewhere.
(See "Suspected heart disease in infants and children: Criteria for referral", section on
'Physical examination findings'.)

Preparticipation sports assessment — In the United States, a preparticipation sports

assessment is the standard of care for children and adolescents who participate in an
organized sport. The use of a standardized preparticipation assessment is endorsed by
several major American medical societies, including the AAP, to ensure that all the
important aspects of the history and physical examination are addressed. (See "Sports
participation in children and adolescents: The preparticipation physical evaluation",
section on 'Evaluation forms'.)

The standardized evaluation includes a focused cardiovascular history and physical

examination. The approach to the cardiovascular history in this setting is discussed in
detail separately. (See "Sports participation in children and adolescents: The
preparticipation physical evaluation", section on 'Cardiovascular history'.)

Further evaluation and referral — Pediatric patients with historical or physical

findings that suggest cardiac disease should be referred to a pediatric cardiologist for
further evaluation. The timing of referral is dependent on the clinical condition of the
patient and the seriousness of the underlying diagnosis that may be suspected. Urgent
referral or consultation with a pediatric cardiologist should occur in patients with or at
risk for hemodynamic compromise and death due to suspected cardiac disease.
(See "Suspected heart disease in infants and children: Criteria for referral", section on
'Timing of referral'.)

Uncertainties of screening — Uncertainties regarding the effectiveness of screening

in primary prevention include [18,20,24,25]:

●Whom do we screen – Universal versus selective screening

●When do we screen – Infancy versus adolescence or throughout childhood
●How do we screen – Role of ECG

Universal versus selective screening — The incidence of SCA and SCD is low in
the general pediatric population, and it is challenging to demonstrate the effectiveness
of a universal screening program. Universal screening is costly, and in-depth
screening can provoke considerable anxiety for patients and families without clear
benefit. As a result, screening has focused on select populations who are deemed to be
at risk, such as competitive athletes. However, even in this selected group, the
incidence of SCA is low, and the impact of screening for SCA and the optimal
approach remain uncertain, as evidence is conflicted and limited. This issue is
discussed in detail separately. (See "Screening to prevent sudden cardiac death in
athletes".)

Age of screening — Effective screening to detect children at risk for SCA would
likely require repeat testing throughout childhood since the causes of SCA and their
clinical manifestations vary during childhood. For example, early screening for
primary electrical conduction defects (eg, long QT syndrome) might need to be
performed within the first year of life to detect affected infants and young children at
risk for SCD. In contrast, clinical manifestations of hypertrophic cardiomyopathy are
not commonly observed until adolescence, and screening for this entity might not be
effective before 12 years of age. (See 'Etiology' above and "Hypertrophic
cardiomyopathy: Clinical manifestations, diagnosis, and evaluation", section on
'Screening of first-degree relatives'.)

Method of screening — The optimal choice of screening method depends on which

conditions are targeted. ECG has been proposed as a universal or selective (eg, prior
to sports participation) screening tool in children and adolescents; however, the
sensitivity and specificity of ECG screening is highly variable and depends on the
nature of the underlying cardiac condition and expertise of the clinician interpreting it
[20]. For example, false-negative ECG results can occur in patients with coronary
artery abnormalities since ECG is often normal in these patients. In addition,
depending on the diagnostic threshold used, false-negative ECG screening may occur
in up to 20 percent of patients with long QT syndrome. (See "Congenital and pediatric
coronary artery abnormalities" and "Congenital long QT syndrome: Diagnosis",
section on '12-lead ECG'.)

False positives are very common in ECG screening, particularly in athletes.

(See "Athletes with arrhythmias: Electrocardiographic abnormalities and conduction
disturbances".)

Additional testing performed to evaluate false-positives limits the cost-effectiveness

of this approach.

In a study of 7764 nonathletes and 4081 athletes between 14 and 35 years of age,
ECG screening results were categorized as normal, benign findings consistent with
training (Group 1; including sinus bradycardia, first-degree atrioventricular block,
incomplete right bundle-branch block, early repolarization, and voltage criteria for left
ventricular hypertrophy), and potentially pathologic findings (Group 2; including T
wave inversion, ST-segment depression, pathological Q waves, left or right atrial
enlargement, left- or right-axis deviation, right ventricular hypertrophy, ventricular
pre-excitation, right bundle-branch block, left bundle-branch block, long QTc, short
QTc, and Brugada-like pattern) [26]. Although Group 1 changes were more frequent
in athletes, they were also fairly common in nonathletes (87 and 49 percent,
respectively). Group 2 findings were common in both athletes and nonathletes (33 and
22 percent, respectively). Echocardiographic evaluation of all 784 nonathletes with
Group 2 findings was normal in 84 percent of patients. Only 2 percent (n = 16) of
these patients had findings consistent with a morphologically mild cardiomyopathy,
and the remaining had incidental findings that would not affect management.

In another study of >11,000 adolescent athletes (95 percent males) who underwent
comprehensive cardiac screening (including a health questionnaire, physical
examination, ECG, and echocardiography), 0.38 percent were found to have disorders
associated with SCD and 2 percent were found to have congenital or valvular
abnormalities [27]. After screening, SCD occurred in eight athletes after a mean
interval of 6.8 years, for an incidence of approximately 6.8 per 100,000 person-years.
Six of the eight athletes who suffered SCD had had normal screening results.

Because randomized trials are not feasible due the low prevalence rate of pediatric
SCA, studies using simulation modeling analysis have estimated the cost-benefits of
different screening approaches in children based on assumptions regarding the age at
screening, false-positive and false-negative rates, and costs of additional testing and
treatment, if appropriate [28,29]. These studies have demonstrated a high cost to
relative health benefit and based on these analyses, the addition of ECG does not
appear to be cost-effective.

High-risk conditions — Treatment strategies for primary prevention of SCD used in

select pediatric patients with high-risk cardiac diseases include the following:

●For patients with dilated cardiomyopathy and left ventricular ejection fraction
<30 percent despite maximal medical therapy, placement of an implantable
cardioverter-defibrillator (ICD) may be considered. This is discussed separately.
(See "Primary prevention of sudden cardiac death in heart failure and
cardiomyopathy", section on 'Nonischemic dilated cardiomyopathy'.)
●For patients with hypertrophic cardiomyopathy with high-risk features, ICD
placement may be considered. This is discussed separately. (See "Hypertrophic
cardiomyopathy in children: Management and prognosis", section on 'ICD
therapy'.)
●For patients with certain arrhythmia syndromes (eg, long QT syndrome,
catecholaminergic polymorphic ventricular tachycardia), beta blockers may be
used for prevention of SCD as discussed in separate topic reviews.
(See "Congenital long QT syndrome: Treatment", section on 'Beta
blockers' and "Catecholaminergic polymorphic ventricular tachycardia", section
on 'Beta blockers'.)

Secondary prevention — It is unlikely that any primary prevention program alone

will prevent all episodes of SCD. Therefore, it is important to improve the outcomes
of children with SCA. We advocate community programs that increase public
placement of automatic external defibrillators (AEDs), and teach effective bystander
cardiopulmonary resuscitation (CPR) and AED use.

Poor outcome is related to prolonged periods without cardiac output, in part because
effective cardiopulmonary resuscitation is not performed. In the previously discussed
study from the state of Washington, improved survival rate for children and young
adults who suffered SCA was attributed in part to the publication of new resuscitative
guidelines in 2005 and the presence of robust community-based emergency medical
services (EMS) [8]. In this study, the survival rate rose from 25 to 58 percent after the
initiation of a single shock without rhythm reanalysis.
Both the AHA and AAP support efforts to improve survival by early symptom
recognition, the use of 911 EMS, effective bystander cardiopulmonary resuscitation
(CPR), and deployment and use of AEDs in the community [18,20]. In particular,
developing and implementing CPR-AED programs within schools has saved the lives
of both students and adults who have had SCA in the school setting [30].
(See "Prognosis and outcomes following sudden cardiac arrest in adults", section on
'Bystander CPR' and "Automated external defibrillators", section on 'AED allocation
strategy'.)

For survivors of SCA, secondary prevention may also involve placement of an

implantable cardioverter-defibrillator (ICD) to prevent SCD from subsequent episodes
of arrhythmia. (See "Secondary prevention of sudden cardiac death in heart failure
and cardiomyopathy".)

SURVIVORS OF SCASurvivors of SCA should undergo a comprehensive

work-up under the direction of a pediatric cardiologist. The initial evaluation consists
of a detailed history, family history, physical examination, electrocardiogram (ECG),
and echocardiogram. Additional testing is guided by the results of the initial work-up
and may include:
●Ambulatory ECG monitoring (Holter monitor)
●Exercise stress test
●Cardiac magnetic resonance imaging
●Electrophysiologic (EP) testing
●Coronary computed tomography angiography (CTA)

The decision to obtain genetic testing is based on initial test results, family history,
and the discretion of the treating cardiologist. First-degree relatives, including siblings
and parents, should also be assessed. The studies that are done on the first-degree
relatives will depend upon the diagnosis of the affected individual.

In many survivors of SCA, an implantable cardioverter-defibrillator (ICD) is inserted

to prevent SCD from recurrent episodes of arrhythmia. Use of ICDs in this setting is
discussed in greater detail separately. (See "Secondary prevention of sudden cardiac
death in heart failure and cardiomyopathy".)

VICTIMS OF SCDWhen a child or adolescent dies unexpectedly, an

assessment of the cardiac anatomy at the time of autopsy is critical. If the examining
medical examiner/coroner does not have a level of comfort in the intricacies of
cardiac anatomy, consultation should be sought. Histologic examination should be
included to detect any finding consistent with cardiomyopathic conditions.
Postmortem examination evaluates cardiac anatomy and histologic changes.
Arrhythmia as a cause of death cannot be assessed on postmortem examination.

If a cardiac anatomic explanation for the SCD episode is not found (ie, autopsy-
negative sudden unexplained death), evaluation should include family screening. It's
reasonable to also perform genetic testing; however, in the absence of an overt
phenotype, genetic testing is typically negative.

A detailed family history should be obtained. Further assessment of first-degree

relatives (ie, siblings and parents) is determined by the family history, autopsy results,
and in selected cases, genetic testing [31]. Clinical studies that may be useful in
family investigation include electrocardiogram (ECG), echocardiogram, Holter ECG,
cardiac magnetic resonance imaging (MRI), exercise stress
test, and/or electrophysiology (EP) testing. Screening relatives provides an
opportunity to identify at-risk family members and initiate management strategies
[31]. Longitudinal cascade screening should be employed to assess cardiac status in
at-risk first-degree relatives. This may be done indefinitely given that some patients
do not manifest phenotypic evidence of disease until much later in life.

A molecular autopsy (ie, postmortem genetic testing for channelopathies and

cardiomyopathies) is sometimes useful in cases of SCD, particularly if the standard
autopsy and family evaluation do not identify a cause [6,32-35]. Genetic testing may
be targeted to identify mutations associated with long QT syndrome, Brugada
syndrome, and catecholaminergic polymorphic ventricular tachycardia (including
mutations in the KCNQ1, KCNH2, SCN5A, and RYR2 genes) [31]. More
comprehensive evaluation is possible with next-generation sequencing technologies,
which have been used in victims of SCD to detect putative pathogenic genetic
variants in a broad spectrum of cardiomyopathy, channelopathy, and aortic disease
associated genes [6,36]. However, next-generation sequencing in the evaluation of
SCD is not standardized and may not be available in all institutions. (See "Genetics of
congenital and acquired long QT syndrome" and "Brugada syndrome: Epidemiology
and pathogenesis", section on 'Genetics'and "Catecholaminergic polymorphic
ventricular tachycardia", section on 'Genetics'.)

A genetic counselor is a key individual in helping the family deal with the
complicated issues surrounding the unexpected death of the child and obtaining an
accurate family pedigree that will aid in the diagnosis of the underlying cardiac
defect.

SOCIETY GUIDELINE LINKSLinks to society and government-

sponsored guidelines from selected countries and regions around the world are
provided separately. (See "Society guideline links: Arrhythmias in children".)
SUMMARY AND RECOMMENDATIONS
●Pediatric sudden cardiac arrest (SCA) and sudden cardiac death (SCD) are
relatively rare, with reported incidence of approximately 2 per 100,000 person-
years. In the United States, survival following SCA among children and young
adults has improved, with an estimated survival rate in the modern era of
approximately 40 percent. (See 'Epidemiology' above.)
●Underlying cardiac diseases associated with SCA/SCD vary somewhat with
age. For children <2 years, congenital heart disease is the predominant cause of
SCA. For older children and adolescents, other cardiac causes are more common,
including primary arrhythmias, cardiomyopathy, and myocarditis. In many cases
of SCA/SCD, the cause is not identified. (See 'Etiology' above.)
●Although SCA is often the initial presenting event, many children who
experience SCA have prodromal warning signs and symptoms (eg, chest pain,
fatigue, seizures, and syncope/lightheadedness) and/or have a family history of
sudden and unexpected death of a family member before the age of 50 years.
(See 'Warning signs'above.)
●The prodromal signs and symptoms of SCA are nonspecific and the differential
diagnosis is broad. Other disorders that need to be distinguished from underlying
cardiac disease include vasovagal syncope, migraine headaches, seizures,
musculoskeletal chest pain, and asthma. (See 'Differential diagnosis' above.)
●Preventive strategies to reduce SCD include primary screening to identify and
intervene in at-risk individuals, and secondary prevention efforts to facilitate
successful resuscitation and improve long-term outcomes of survivors of SCA.
(See 'Preventive strategies' above.)
●The optimal screening approach for primary prevention of SCD is uncertain.
Based on the available evidence, we suggest screening for cardiac diseases
associated with SCA and SCD using a detailed history and physical
examination alone, without the routine use of additional testing (eg,
electrocardiography [ECG]) (Grade 2C). The one exception is universal pulse
oximetry screening for critical congenital heart disease in the newborn, which is
discussed separately. (See 'Approach to screening' above and "Newborn
screening for critical congenital heart disease using pulse oximetry".)
●During each routine child care visit, the following aspects of the history should
be included: history of syncope, near-syncope, or seizure; exercise-induced chest
pain or shortness of breath; a history of sudden unexpected, unexplained death in
a family member before 50 years of age; and a family history of cardiac disease
associated with sudden death (eg, long QT syndrome). Physical examination
includes measurement of blood pressure and resting heart rate, and cardiac
auscultation to assess rate and rhythm of the heart and detect murmurs and other
abnormal heart sounds. Children and adolescents who participate in an organized
sport should undergo a standardized preparticipation evaluation that includes a
cardiovascular assessment. (See 'Routine health care visits' above and "Sports
participation in children and adolescents: The preparticipation physical
evaluation".)
●Patients with either a historical or physical examination finding suggestive of an
underlying cardiac disorder should be further evaluated (including
ECG) and/or referred to a cardiac specialist with pediatric expertise.
(See 'Further evaluation and referral' above and "Suspected heart disease in
infants and children: Criteria for referral".)
●Secondary prevention strategies aim to improve the outcomes of children who
suffer SCA. Such efforts include community programs to increase public
placement of automatic external defibrillators (AEDs) and to teach effective
bystander cardiopulmonary resuscitation (CPR) and AED use. In addition, for
survivors of SCA, secondary prevention may involve placement of an
implantable cardioverter-defibrillator (ICD) to prevent SCD from subsequent
episodes of arrhythmia. (See 'Secondary prevention' above and "Secondary
prevention of sudden cardiac death in heart failure and cardiomyopathy".)
●In pediatric survivors of SCA, a comprehensive evaluation is performed to
identify and treat the underlying cardiac condition. The initial assessment
includes a detailed history, family history, physical examination, ECG, and
echocardiogram. Additional testing is guided by the results of the initial work-up
and may include ambulatory ECG monitoring (Holter monitor), exercise stress
test, cardiac magnetic resonance imaging, electrophysiologic
testing, and/or genetic testing. (See 'Survivors of SCA' above.)
●When a child or adolescent dies unexpectedly, an autopsy that includes a full
assessment of cardiac anatomy and histology should be performed. If a cardiac
anatomic explanation for the SCD episode is not found, evaluation should
include family screening and/or genetic testing. (See 'Victims of SCD' above.)
ACKNOWLEDGMENTThe editorial staff at UpToDate would like to
acknowledge Stuart Berger, MD, who contributed to an earlier version of this topic
review.
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REFERENCES