Elevated Troponin in an Infant With Spinal Muscular Atrophy.

Area of Science:

• Neurology
• Genetics
• Cardiology

Background:

• Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder caused by SMN1 gene mutations, leading to motor neuron degeneration.
• Gene therapies for SMA can have known cardiac adverse effects, necessitating careful cardiac monitoring.
• Elevated troponin I levels are typically indicative of cardiac injury.

Purpose of the Study:

• To report a case of elevated troponin I in a newborn with SMA prior to gene therapy.
• To investigate the potential intrinsic cardiac involvement in newborns with SMA.
• To assess cardiac safety following gene therapy in an infant with pre-existing elevated troponin I.

Main Methods:

• Case report of a 22-day-old infant diagnosed with SMA.
• Serial cardiac evaluation including troponin I levels and echocardiograms.
• Monitoring of cardiac status before and after gene therapy administration.

Main Results:

• The infant presented with elevated troponin I levels before gene therapy initiation.
• Initial echocardiogram showed a left-ventricular ejection fraction of 57%, which improved to 70% with decreasing troponin I levels.
• No further cardiac abnormalities were observed after gene therapy infusion.

Conclusions:

• Elevated troponin I can be an intrinsic finding in newborns with SMA, independent of gene therapy.
• Comprehensive cardiac evaluation is crucial for infants with SMA, even if asymptomatic.
• Gene therapy for SMA may be safely administered in selected cases with pre-existing elevated troponin I after cardiac clearance.