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Congenital Myotonic Dystrophy and Brugada Syndrome: A Report of Two Cases

Rare co-existance of disease or pathology

Kunal Gupta, Marie R. Kennelly, Ashajyothi M. Siddappa

Division of Neonatology, Department of Pediatrics, Hennepin County Medical Center (HCMC), Minneapolis, MN, USA

Am J Case Rep 2020; 21:e919867

DOI: 10.12659/AJCR.919867

Available online:

Published: 2020-01-09


BACKGROUND: Congenital myotonic dystrophy is a subtype of type 1 myotonic dystrophy presenting in the neonatal period. Cardiac involvement is commonly seen in patients with type 1 myotonic dystrophy beyond the neonatal period. Brugada syndrome is a conduction abnormality associated with a mutation in the sodium voltage-gated channel alpha subunit 5 (SCN5A) gene and has been described in adult patients with type 1 myotonic dystrophy. Two cases are presented of type 1 myotonic dystrophy in neonates, one who had family members with a confirmed diagnosis of Brugada syndrome.
CASE REPORT: Case 1: A female infant at 40 weeks gestational age, birth weight of 3,395 grams was born to a 40-year-old gravida 4, para 3 (G4P3) mother. The mother had previously been diagnosed with Brugada syndrome. Multiple family members were identified and diagnosed with type 1 myotonic dystrophy and Brugada syndrome. The infant is being monitored closely with a plan to perform genetic testing for Brugada syndrome if she develops cardiac conduction abnormalities. Case 2: A male infant at 37 weeks gestational age, with a birth weight of 2,900 grams, was born to a 24-year-old gravida 2, para 1 (G2P1) mother. He was admitted to the neonatal intensive care unit (NICU) secondary to poor respiratory effort and generalized hypotonia. Severe polyhydramnios was diagnosed during pregnancy. The mother had previously been diagnosed with type 1 myotonic dystrophy.
CONCLUSIONS: Infants with congenital myotonic dystrophy should be carefully monitored for both structural and conduction abnormalities of the heart, supported by genetic testing.

Keywords: Brugada syndrome, Myotonic Dystrophy, NAV1.5 Voltage-Gated Sodium Channel, Infant, Newborn, Mutation



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