Awareness of Congenital Heart Defects Among Healthcare Clinicians: Point of Care Tools

Pregnancy may pose significant health risks for patients with CHD.

• Educate parents and ultimately the patient about the potential risks of pregnancy and other women’s health concerns.
• Emphasize effective contraceptive management during adolescence and early adulthood.
• Well in advance of pregnancy, refer for prepregnancy consult with Pregnancy Heart Team or congenital cardiology and maternal-fetal medicine (MFM) physicians.

• Provide early patient education about potential impact of pregnancy on cardiac health.
• Advise patient about importance of contraception and facilitate selection of a method. Long-acting reversible contraceptive (LARC) methods have high effectiveness, few contraindications and high patient acceptance.
• The Centers for Disease Control and Prevention’s US Medical Eligibility Criteria for Contraceptive Use provides guidance on contraceptive selection based on medical risk factors.
• Ensure that adolescent and young adult patients receive appropriate immunizations including HPV.

The early phase of prepregnancy health care consists of ensuring that patients understand the potential risks of pregnancy in patients with CHD and that pregnancy should always be a planned event. Many resources exist to guide counseling:

• European Society for Cardiology 2018 guidelines (which includes the WHO classification system)
• CARPREG II risk scoring system

Preconception health care begins in earnest when a patient decides they are actively ready to become pregnant.

• Comprehensive review of medical history and physical exam
• Updated cardiology evaluation, which may include EKG and echocardiogram and other studies as clinically indicated.
• Detailed review of medication list to assess for potential teratogens; should include non-cardiac medications which the patient is taking
  
  • Cardiac Medications With Potential Effects on Pregnancy or Lactation
    ‒ The FDA “Pregnancy Drug Categories” A-X were discontinued in 2015 and are no longer utilized.
• Establish plan for discontinuing or substituting cardiac medications before conception or in early pregnancy; in some cases, these medications may be continued after consultation with congenital cardiologist and maternal-fetal medicine. Patients with CHD should not be advised to stop medications without first consulting their cardiologist.
• Review and administration of immunizations
• Cervical cancer screening beginning at age 21 and other age-appropriate preventive health screenings
• Tobacco/nicotine cessation, alcohol avoidance, cessation of drug use including marijuana
• Daily intake of 400 mcg folate

Patients with CHD should establish care early with their Ob/Gyn. A detailed assessment performed before pregnancy will have determined the appropriate level of care needed.

• All patients with CHD are at increased risk to have a child with CHD. Perform fetal echocardiography at 18-22 weeks.
• Low risk lesions - low risk of cardiac events and death during pregnancy. Congenital cardiologist and MFM physician may clear for delivery at a local hospital where appropriate backup resources are available.
  • Repaired lesions such as atrial septal defect (ASD), ventricular septal defect (VSD), patent ductus arteriosus (PDA), total anomalous pulmonary venous return (TAPVR)
  • Unrepaired ASD, VSD; repaired Tetralogy of Fallot without residual lesion
• High risk lesions - increased risk of cardiac events and death during pregnancy; ideally managed during pregnancy, delivery and post-partum care in centers with a multidisciplinary Pregnancy Heart Team.
  • Marfan syndrome/other hereditary thoracic aortic disease
  • Patients with Fontan circulation, systemic right ventricle, and unrepaired cyanotic CHD
  • Systemic right ventricle with diminished function; dilated aortic root; severe coarctation
• Pregnancy Heart Team includes members from cardiology, maternal-fetal medicine, obstetrics, obstetric anesthesia, pharmacy, and nursing and focuses on risk stratification and multidisciplinary care planning.
• Levels of Maternal Care 

The emergency department (ED) is an important point of contact for patients with congenital heart defects (CHDs) who present with complaints either directly or indirectly related or unrelated to their CHD.

• Clinicians, and ultimately the patients, should be educated about the potential signs and symptoms that herald a progression of their underlying heart condition.
• Careful screening on the part of physicians to identify a previous CHD diagnosis, previous cardiac procedure (e.g. surgical scar), or red flag symptoms during history taking or upon physical exam, will enable recognition and opportunities to refer patients to appropriate outpatient congenital cardiology care.
• When patients appear to have been lost to cardiac follow up care, physicians should be familiar with the avenues for referral of patients to congenital cardiologists.

• Thorough history and physical examination, including targeted questioning, such as “Have you had any heart problems before — even as a child? For example, did you ever have heart surgery or take medicine for your heart?”
• Patients may not mention pertinent medical history unless questioned directly.
• A complete review of systems, including, but not limited to the following:
  • Shortness of breath with activity or when lying down
  • Reduced ability to exercise
  • Fatigue and weakness
  • Swelling in the abdomen, legs, ankles and feet
  • Rapid or irregular heartbeat
  • Persistent cough or wheezing with white or pink blood-tinged mucus
  • Very rapid weight gain from fluid buildup
  • Nausea and lack of appetite
  • Difficulty concentrating or decreased alertness
  • Chest pain
  • Lower oxygen than a previous baseline
• Survey for potential complications following repair, such as arrhythmias, heart failure, etc.

Patients with CHDs may sometimes be lost to cardiac follow-up care. It is vital to stress the importance and need for lifetime care under a congenital cardiologist. If you encounter a patient lost to cardiac follow-up care, it is essential to suggest they contact their cardiologist if they have one.

You may also want to perform appropriate questioning and refer the patient to a cardiologist if they do not have one. In some cases, a cardiology consultation in the ED may be appropriate.

• Link adults to adult congenital cardiology care through the ACHD Clinic Directory.
• Each program processes referrals differently but many large regional programs have satellite clinics in smaller areas.
  
  • Utilize social work, case management and contact adult and pediatric cardiology specialists at major regional centers to ensure expedited follow-up.
• Establish a Digital Emergency Care Plan Letter, listing the CHD condition, prior surgeries (with dates), highlighting symptoms to watch for, immediate emergency care steps and contact information for the patient’s cardiologist.

Perform and assess results of a basic cardiac exam.

Perform a physical exam

• General appearance
• Vital signs - Pulses (upper vs. lower body), blood pressure, respiratory rate, O2 saturation (pre-post ductal, right hand vs. other extremities)
• Palpation (chest)
• Auscultation (heart)

Note miscellaneous findings

• Edema, hepatomegaly
• Color (pallor/cyanosis), capillary refill
• Lung exam (crackles)
• Growth chart
• EKG

Develop and share a management plan based on recommendations of the pediatric cardiologist

• Palivizumab
• Routine vaccines and PCV23 vaccine
• Regular cardiology follow-ups
• Cardiac medications
• Nutrition goals
• Activity recommendations
• Antibiotic and thrombosis prophylaxis
• O2 saturation goals

Perform Newborn Critical Congenital Heart Disease Screening.

Listen for and identify heart murmurs: include auscultation in supine, sitting, and standing positions

Benign murmurs

• Always systolic
• Low pitched, “vibratory” or “musical” (not “harsh”)
• Heard only over a small area of the precordium
• Louder in the supine position
• Severity is less than 3 out of 6 (not associated with a thrill)

Pathological murmurs (require cardiology referral)

• Associated with cardiac symptoms such as cyanosis
• Associated with bounding or weak peripheral pulses
• Presence of abnormal heart sounds
• Diastolic murmurs are always pathological
• Loud systolic murmurs that have an intensity >3 out of 6 (ie., with thrill), long duration, and radiate
• Abnormal cardiac silhouette or abnormal pulmonary markings on chest x-ray
• Abnormal EKG findings

Physical exam findings suggestive of a CHD in neonates

• Cyanosis, particularly if it does not improve with O2 administration
• Weak or absent peripheral pulses in the lower extremities
• Irregular cardiac rhythm or abnormal heart rate
• Tachypnea 60 or more breaths per minute with/without retractions
• Hepatomegaly
• Heart murmur (benign heart murmurs are more common)

Ask about chest pain

• Cardiac causes make up only 1% of chest pain in children.
• A thorough history and physical exam are warranted in all cases.
• Referral to a pediatric cardiologist is required when:
  
  • Patient presents with exertional chest pain
  • Pain is associated with palpitations, dizziness, or syncope
  • There are abnormal findings on physical exam, chest x-ray, and/or EKG
  • There is a family history of:
    • Sudden unexpected death
    • Hypertrophic cardiomyopathy
    • Long QT syndrome
    • Hereditary diseases with associated cardiac defects
• Pain is chronic and/or recurrent and is a cause of significant worry for the patient and their family

Look for parent/caregiver strain

• Underemployment
• Financial difficulties
• Lack of access to healthcare, reliable health insurance
• Lack of appropriate and safe childcare, respite care
• Relationship strain (within the family as well as outside the family) and social isolation

Check for developmental delays and learning disabilities

• Developmental screenings at all well visits
• Cognitive delays
• Fine motor and gross motor delays
• Social skills challenges
• Learning disabilities
• Difficulty with adaptive function/functional problems

Identify behavioral issues. Screen for mental health conditions and developmental disability throughout childhood and early adulthood.

• ADHD
• Mood disorders
• Anxiety
• Autism

Identify community partners

• Early Childhood Intervention programs
• Educational supports (ie., IEPs, 504 plans)
• National and local support networks for children with CHDs, special needs/disabilities

Identify subspecialty providers and therapists

• Congenital cardiology care physicians, even if patient is stable
• Consider additional subspecialty care as appropriate: genetics, neurology, pulmonology, gastroenterology, endocrinology, orthopedics, psychiatry, behavioral health, developmental pediatrics, physical medicine, and rehabilitation (PMR).

Identify ancillary therapists

• Physical therapy (PT) / occupational therapy (OT) / speech-language therapy (ST)
• Feeding teams
• Nutritional teams

• Most children with congenital heart defects (CHDs) live into adulthood.
• Although mortality has improved significantly, morbidity remains a considerable problem.
• Since 2000, more adults than children are living in the United States with CHDs.
• Many patients with CHDs are lost to congenital cardiology care before they are teenagers; a majority of adults with CHDs have gaps in cardiology care.
• Ask your patients with CHDs if they are regularly seeing a cardiologist. If not, refer them to an adult congenital cardiologist.

2018 AHA/ACC Adult congenital heart disease guidelines (abbreviated list) is based on CHD types and symptoms.

Simple

• Patients typically have a normal lifespan compared to the general population.
• Associated with these CHDs: mild pulmonary stenosis, small unrepaired atrial septal defects (ASDs), small unrepaired ventricular septal defects (VSDs), small unrepaired patent ductus arterious (PDA), repaired ASDs, repaired VSDs, and repaired PDA.

Moderate complexity

• Ensure that patients are monitored regularly by an adult congenital cardiologist to identify and treat potential long-term complications which may arise in adulthood.
• Associated with these CHDs: coarctation of the aorta, anomalous venous return, Tetralogy of Fallot (ToF), and atrioventricular canal.

Complex

• Ensure that patients are monitored frequently by an adult congenital cardiologist to identify and treat morbidity secondary to their CHD.
• Associated with these CHDs: Transposition of the Great Arteries (TGA), cyanosis, Fontan palliation, and single ventricle physiology.

2018 AHA/ACHD Guideline for the Management of Adults with Congenital Heart Disease: Executive Summary provides details on specific types of CHDs.

Repaired or palliated patients

• Utilize social work, case management, and contact adult and pediatric cardiology specialists at major regional centers to ensure expedited follow-up.
• Note that some patients may present with exercise intolerance, arrhythmias, or heart failure.

Unrepaired patients

• Although most patients with CHDs are identified in childhood, a small number of patients are diagnosed as adults.
• Be aware of patients who present with upper extremity hypertension, murmurs or abnormal heart sounds, cyanosis or clubbing, arrhythmias, or heart blocks.
• Also look for patients with partial anomalous venous return or bicuspid aortic valve with dilated ascending aorta identified incidentally on CT or MRI.

Arrhythmias – Adults with CHDs are at higher risk of developing arrhythmias, a major source of morbidity.

• Intraatrial reentrant tachycardia (IART) or atypical atrial flutter are the most frequent types of arrhythmia in adults with CHDs. Tachycardia may be scar-mediated and can be faster or slower than typical atrial flutter.
  • Anticoagulation – The complexity of the patient’s CHD is a better tool than CHAD-VASC score to risk-stratify a patient’s need for anticoagulation.
  • Use this approach unless the patient has a simple CHD. For these patients, CHAD-VASC scores are best for decision-making.
• Ventricular tachycardia and heart block are also common arrhythmias in this population.
• CHD type determines common related arrhythmias. See the 2020 European Society of Cardiology Adult Congenital Heart Disease Guidelines for more information.

Heart failure – Patients with CHDs and heart failure are younger and have longer admissions than the general heart failure population. Heart failure is the number one cause of death in patients with CHDs older than 40 years.

Increased risk of endocarditis

• Subacute bacterial endocarditis (SBE) prophylaxis is recommended in specific ACHD populations.
• Ensure that all patients with CHDs have regular dental care as a preventive measure.

Pulmonary hypertension

• Patients with CHDs may develop pulmonary hypertension from large or moderate unrepaired shunts.
• Make sure that patients with residual shunts avoid air in their IVs to prevent paradoxical emboli and stroke.

• Note that many patients with CHDs have long-term comorbidities that are not cardiac-related. The Diagnosis and Management of Non-cardiac Complications in Adults with CHD: A Scientific Statement From the AHA summarizes these complications.
• Recommend a preoperative evaluation for patients with CHDs. Depending on the severity of their CHD, you may need to refer them to a cardiac anesthesiologist who is familiar with their CHD.
• Note that patients with CHDs may need procedures performed at an ACHD referral center.
• Perform age-appropriate cancer screening and provide referrals when needed.
• Primary care physicians should screen patients with CHDs for depression and anxiety; young adults with CHDs are 4-5 times more likely to have mental health-related concerns.
• Many patients need a multidisciplinary approach with multiple adult subspecialists. The 2020 European Society of Cardiology Adult Congenital Heart Disease Guidelines describe the need for multidisciplinary care.

• Encourage patients with certain CHDs who are at increased risk of blood clots to avoid estrogencontaining contraceptive methods (ie, combined birth control pills, patches, or rings). Provide contraceptive counseling for all women of childbearing age.
• Ensure all patients of childbearing age receive prepregnancy counseling with an ACHD physician and OB/MFM physician to assess cardiac health, determine whether any procedures are needed before pregnancy, and discuss the safety of procedures or medications.
• See the related AAP course for more information: OBGYN Care for Patients with Congenital Heart Defects.

• Recommend care at specialized care centers when appropriate; research shows that referral centers specializing in adult CHD care have improved survival rates.
• If advanced cardiac imaging or interventions are required, refer patients to specialized care centers.
• Review the following site for a list of adult CHD centers.