What maternal disease is most likely to cause lethargy, tachycardia, and ventricular hypertrophy in a newborn, given options including Glycogen Storage Disease (GSD), Systemic Lupus Erythematosus (SLE), Diabetes, and Graves' disease?

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Maternal Diabetes is the Most Likely Cause

Maternal diabetes is the most likely maternal disease causing lethargy, tachycardia, and ventricular hypertrophy in this newborn. 1

Pathophysiology of Diabetic Cardiomyopathy in Newborns

  • Transient ventricular hypertrophy occurs in infants of diabetic mothers even after good diabetic control during pregnancy, representing a metabolic cause that typically resolves over time without specific intervention 1, 2
  • Cardiac hypertrophy is reported in 13 to 44% of infants of diabetic mothers, making this a common and well-recognized complication 3
  • The mechanism involves hyperinsulinism-induced cardiac hypertrophy, which cannot be distinguished from other forms of hypertrophic cardiomyopathy on echocardiographic examination alone 3
  • Lysosomal glycogen accumulation results in significant cardiac hypertrophy that may begin in utero and is significant even at 4-8 weeks of age 1

Clinical Presentation Matches This Case

  • Infants with diabetic cardiomyopathy present with lethargy and tachycardia as signs of acute congestive heart failure, which aligns with this newborn's presentation 4
  • The ventricular hypertrophy can be substantial (between 2 and 10 or higher z-score for LV mass) 1
  • These infants may show signs of marked congestive heart failure with non-dilated ventricular cavities and normal or increased left ventricular contractility 5

Why Other Options Are Less Likely

Glycogen Storage Disease (e.g., Pompe Disease)

  • While Pompe disease causes severe cardiac hypertrophy in infants, it is not a maternal disease but rather an inherited metabolic disorder 1
  • The question specifically asks for a maternal disease affecting the newborn 1

Systemic Lupus Erythematosus (SLE)

  • Maternal SLE primarily causes congenital heart block in newborns, not ventricular hypertrophy 1
  • The clinical presentation of lethargy, tachycardia, and hypertrophy does not match the typical neonatal lupus syndrome pattern 1

Graves Disease

  • Neonatal hyperthyroidism from maternal Graves disease causes sinus tachycardia but not typically ventricular hypertrophy 1
  • The primary cardiac manifestation would be tachycardia without structural changes 1

Diagnostic Confirmation

  • Echocardiography is essential to assess the degree of ventricular hypertrophy, with LV mass evaluated by two-dimensional measurements using the length-area relationship 1
  • Check maternal glucose control history and infant's glucose levels to confirm hyperinsulinism 3
  • The absolute mass value should be compared to a normal control population to yield a z-score 1

Prognosis and Management

  • The prognosis is generally favorable, as this form of cardiac hypertrophy typically resolves spontaneously during the first year of life 1, 2
  • Serial echocardiographic monitoring is recommended to document resolution of hypertrophy 1
  • Treatment focuses on managing any acute heart failure symptoms while awaiting spontaneous resolution 3
  • Avoid inappropriate use of standard cardiomyopathy drugs, as they may worsen an already compromised heart in this specific context 1

References

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