What is the management approach for a newborn born to a mother with Arrhythmogenic Right Ventricular Dysplasia (ARVD)?

Management of Newborn Born to Mother with ARVD

The newborn should undergo comprehensive cardiac screening including ECG, echocardiography, and genetic counseling, with close cardiac monitoring throughout childhood due to the 10% risk of premature sudden death before age 25 years, including 2% risk in the first year of life. 1

Immediate Neonatal Assessment

Cardiac Evaluation at Birth

• Perform baseline 12-lead ECG to assess for conduction abnormalities, ventricular arrhythmias, or early signs of right ventricular involvement 1
• Obtain echocardiography to evaluate right ventricular structure and function, looking specifically for RV dilatation, wall thinning, or regional wall motion abnormalities 2
• Document any premature ventricular complexes or arrhythmias on continuous cardiac monitoring during the initial hospitalization 3

Genetic Risk Assessment

• Refer to fetal/pediatric cardiology and genetic counseling services given the autosomal dominant inheritance pattern of ARVD with variable penetrance 4
• Discuss genetic testing options with the family, as mutations in desmosomal proteins are the most frequent genetic basis and can guide family screening 5
• Counsel parents that offspring have increased risk of congenital heart disease transmission, though ARVD specifically manifests later in life 4

Medication Considerations

Beta-Blocker Exposure

• If mother was on beta-blockers during pregnancy (particularly acebutolol as reported in successful ARVD pregnancies), monitor newborn for bradycardia, hypoglycemia, and respiratory depression in first 24-48 hours 3
• Note that beta-blocker exposure in utero is associated with lower birthweight (2730g vs 3400g), so assess for appropriate growth parameters 1
• Beta-blockers cross into breast milk, so discuss with pediatrician regarding breastfeeding safety if mother continues cardiac medications 4

Maternal ICD Considerations

• Document if mother has an implantable cardioverter defibrillator, as this indicates higher-risk maternal disease and may correlate with more aggressive genetic variants 3, 6

Ongoing Surveillance Protocol

Childhood Monitoring Strategy

• Establish regular cardiac follow-up with pediatric cardiology starting in infancy, given the 10% risk of premature sudden death before age 25 years 1
• Implement close cardiac monitoring throughout childhood, as two of five sudden deaths in offspring occurred in the first year of life 1
• Perform serial ECGs and echocardiograms from adolescence onward to detect disease onset, as ARVD typically manifests clinically in adolescence or young adulthood 6, 5
• Consider 24-hour ambulatory ECG monitoring periodically to assess for ventricular ectopy or nonsustained ventricular tachycardia 6

Exercise Restriction Counseling

• Counsel family that if the child develops ARVD, dramatic reduction in exercise and discontinuation of competitive athletics will be strongly recommended, as exercise accelerates disease development and progression 6, 5
• Defer specific exercise restrictions until genetic testing results and serial cardiac evaluations determine disease status 6

Critical Pitfalls to Avoid

Common Management Errors

• Do not assume normal initial cardiac evaluation excludes future risk - ARVD has variable age of onset and progressive nature, requiring lifelong surveillance in at-risk family members 2, 5
• Do not delay genetic counseling - early identification of mutation carriers allows for appropriate screening intervals and lifestyle modifications before disease manifestation 6, 5
• Do not overlook subtle ECG changes - early ARVD may present only with ventricular ectopy or minor repolarization abnormalities before structural changes become apparent 2, 6

Risk Stratification Factors

• Proband status (mother being the index case) and presence of sustained ventricular arrhythmias in mother indicate higher familial risk profile 6, 5
• The 24-hour PVC count in affected individuals helps assess sudden death risk, though this applies to diagnosed patients rather than neonates 5
• Genetic testing results will determine if child carries pathogenic desmosomal mutation, which has implications for screening intensity even before clinical disease develops 5

Family Screening Cascade

Systematic Approach

• Screen all first-degree relatives (siblings of the newborn as they are born) through noninvasive cardiac testing from adolescence onward 6
• Coordinate with genetic counseling services to provide ongoing support through patient-family education and counseling 6
• Establish clear documentation of family history and genetic testing results to guide future reproductive counseling for the child when they reach adulthood 4