J Korean Med Sci.  2014 Jun;29(6):879-883. 10.3346/jkms.2014.29.6.879.

Transient Complete Atrioventricular Block in a Preterm Neonate with Congenital Myotonic Dystrophy: Case Report

• Kim HN
• Cho YK
• Cho JH
• Yang EM
• Song ES
• Choi YY

• KMID: 1796955
• DOI: http://doi.org/10.3346/jkms.2014.29.6.879

Abstract

Congenital myotonic dystrophy (CMD) is an inherited neuromuscular disorder with cardiac rhythm abnormalities that may occur as a child grows. No report has described complete atrioventricular (AV) block detected in a neonate with CMD. We report a floppy infant of 31(+4) weeks gestation with complete AV block at birth, who was diagnosed with CMD by Southern analysis. She recovered from complete AV block 32 hr after temporary transcutaneous pacing was applied. To the best our knowledge, this is the first recorded case of a complete AV block accompanied by CMD during the neonatal period. When a newborn has a complete AV block, the physician should consider the possibility of the CMD and conduct a careful physical examination.

Keyword

Complete Atrioventricular Block; Congenital Myotonic Dystrophy; Pacing

MeSH Terms

3' Untranslated Regions
Atrioventricular Block/complications/*diagnosis
Blood Gas Monitoring, Transcutaneous
Chromosomes, Human, Pair 9
Electrocardiography
Female
Humans
Infant, Newborn
Myotonic Dystrophy/complications/*diagnosis/genetics
Myotonin-Protein Kinase/genetics
Trinucleotide Repeats
3' Untranslated Regions
Myotonin-Protein Kinase

Figure

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  Fig. 1 Chest X-ray findings of the patient. (A) At birth, it showed ground glass opacity in both lung with cardiomegaly, thin ribs, peripheral thinning, and floating clavicles. (B) Transcutaneous pacing electrodes were placed at the right upper sternal border and apex of the patient's chest.

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  Fig. 2 Electrocardiograms (ECG) of the patient. (A) ECG at birth showed a complete atrioventricular block with an atrial rate of 150 bpm and a ventricular rate of 54 bpm. (B) Post-recovery ECG after applying the temporary transcutaneous pacing showed no conduction abnormality.

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  Fig. 3 Gross appearance of the patient. (A) There was a third degree burn at the removal site of the pacing pad at the cardiac apex. (B and C) Gross appearance showed bilateral talipes equinovarus, joint contracture, frontal bossing, tented upper lip at 2.5 months and 4 months of age.

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  Fig. 4 Southern blot analysis of the patient and her mother. (A) The analysis of the patient showed more than 1,000 copies of cytosine-thiamine-guanine (CTG) repeat in the myotonic protein kinase gene (black arrow). (B) The analysis of her mother showed about 150 copies of the CTG repeat (white arrow).

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