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Published on: October 19, 2013
Persistent pulmonary hypertension in newborn infants with cogenital myotonic dystrophy
K Rais-Bahrami1, M G MacDonald, G D Eng
1Department of Neonatology, George Washington University School of Medicine, Washington, D.C.
Insights
Congenital myotonic dystrophy can cause severe persistent pulmonary hypertension in infants. This condition often leads to fatal respiratory insufficiency, even with advanced medical interventions.
Area of Science:
- Pediatric Medicine
- Neonatology
- Genetics
Background:
- Congenital myotonic dystrophy (CDM) is a severe genetic disorder affecting newborns.
- Persistent pulmonary hypertension (PPH) is a critical condition in neonates.
- Respiratory insufficiency is a common and serious complication in infants with CDM.
Abstract:
We describe two infants with congenital myotonic dystrophy that was complicated by persistent pulmonary hypertension. Both infants died of respiratory insufficiency that was unresponsive to ventilatory and pharmacologic support. One of the two infants was supported with extracorporeal membrane oxygenation before the diagnosis of congenital myotonic dystrophy was made.

