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

Kim, Hee Na; Cho, Young Kuk; Cho, Joo Hyun; Yang, Eun Mi; Song, Eun Song; Choi, Young Youn

doi:10.3346/jkms.2014.29.6.879

Cited by 4 publications

(5 citation statements)

References 16 publications

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“… 128) Some patients with congenital MD1 develop AV-block. 129) CI in patients with DM2 manifests as conduction disturbances (Brugada-like ECG abnormalities), 130) dCMP, 131) or LVHT. 132) …”

Section: Resultsmentioning

confidence: 99%

Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the Nerves

Finsterer

Stöllberger

2016

Korean Circ J

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Little is known regarding cardiac involvement (CI) by neuromuscular disorders (NMDs). The purpose of this review is to summarise and discuss the major findings concerning the types, frequency, and severity of cardiac disorders in NMDs as well as their diagnosis, treatment, and overall outcome. CI in NMDs is characterized by pathologic involvement of the myocardium or cardiac conduction system. Less commonly, additional critical anatomic structures, such as the valves, coronary arteries, endocardium, pericardium, and even the aortic root may be involved. Involvement of the myocardium manifests most frequently as hypertrophic or dilated cardiomyopathy and less frequently as restrictive cardiomyopathy, non-compaction, arrhythmogenic right-ventricular dysplasia, or Takotsubo-syndrome. Cardiac conduction defects and supraventricular and ventricular arrhythmias are common cardiac manifestations of NMDs. Arrhythmias may evolve into life-threatening ventricular tachycardias, asystole, or even sudden cardiac death. CI is common and carries great prognostic significance on the outcome of dystrophinopathies, laminopathies, desminopathies, nemaline myopathy, myotonias, metabolic myopathies, Danon disease, and Barth-syndrome. The diagnosis and treatment of CI in NMDs follows established guidelines for the management of cardiac disease, but cardiotoxic medications should be avoided. CI in NMDs is relatively common and requires complete work-up following the establishment of a neurological diagnosis. Appropriate cardiac treatment significantly improves the overall long-term outcome of NMDs.

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Section: Resultsmentioning

confidence: 99%

Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the Nerves

Finsterer

Stöllberger

2016

Korean Circ J

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“…[12] Transient transcutaneous pacemaker has been used to manage bradycardia in children and adults. [13] However in our case since AV block was rapidly returned to normal sinus rhythm following calcium infusion, any invasive intervention was not required.…”

Section: Discussionmentioning

confidence: 77%

A rare cause of 2: 1 Atrioventricular block and congestive heart failure in preterm infants: Hypocalsemia

Azak¹

2016

Arch Turk Soc Cardiol

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Atrioventricular (AV) block in the neonatal period is a rare disorder. It is frequently associated with underlying structural congenital heart disease and maternal lupus. Presently described is premature baby who developed 2:1 AV block and congestive heart failure due to hypocalcemia. Dramatic clinical improvement was observed following treatment of intravenous 10% calcium gluconate. Therefore, it is suggested that serum calcium level of newborns with AV block and congestive heart failure be measured.

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“…Only reported cases with well-documented relevant information about gender, CTG repeat size of the DMPK , and/or the DM1 phenotype of the transmitting parent and the affected child were included. After a literature search related to Korean DM1 [ 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 ], 39 parent–child matched pairs with information about each gender, the CTG repeat size of the DMPK , and/or the DM1 phenotype were included in this study.…”

Section: Intergenerational Data Collection and Analysismentioning

confidence: 99%

Intergenerational Influence of Gender and the DM1 Phenotype of the Transmitting Parent in Korean Myotonic Dystrophy Type 1

Han

Jang

Park

2022

Genes

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Myotonic dystrophy type 1 (DM1) is the most common autosomal-dominant disorder caused by the CTG repeat expansion of the DMPK, and it has been categorized into three phenotypes: mild, classic, and congenital DM1. Here, we reviewed the intergenerational influence of gender and phenotype of the transmitting parent on the occurrence of Korean DM1. A total of 44 parent–child pairs matched for the gender of the transmitting parent and the affected child and 29 parent–child pairs matched for the gender and DM1 phenotype of the transmitting parent were reviewed. The CTG repeat size of the DMPK in the affected child was found to be significantly greater when transmitted by a female parent to a female child (DM1-FF) (median, 1309 repeats; range, 400–2083) than when transmitted by a male parent to a male child (650; 160–1030; p = 0.038 and 0.048 using the Tukey HSD and the Bonferroni test) or by a male parent to a female child (480; 94–1140; p = 0.003). The difference in the CTG repeat size of the DMPK between the transmitting parent and the affected child was also lower when transmitted from a male parent with classic DM1 (−235; −280 to 0) compared to when it was transmitted from a female parent with mild DM1 (866; 612–905; p = 0.015 and 0.019) or from a female parent with classic DM1 (DM1-FC) (605; 10–1393; p = 0.005). This study highlights that gender and the DM1 phenotype of the transmitting parent had an impact on the CTG repeat size of the DMPK in the affected child, with greater increases being inherited from the DM1-FF or DM1-FC situations in Korean DM1.

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

Cited by 4 publications

References 16 publications

Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the Nerves

Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the Nerves

A rare cause of 2: 1 Atrioventricular block and congestive heart failure in preterm infants: Hypocalsemia

Intergenerational Influence of Gender and the DM1 Phenotype of the Transmitting Parent in Korean Myotonic Dystrophy Type 1

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