What does this research mean for the field?

ANK2 variants associated with long QT phenotype can manifest as severe, persistent high-degree atrioventricular block requiring permanent leadless pacemaker implantation in pediatric patients. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

To report a case of high-degree atrioventricular block in a child associated with an ANK2 variant and long QT phenotype.

July 26, 2026Cardiology in the Young

High-degree atrioventricular block in a child with an ANK2 variant and long QT phenotype requiring leadless pacemaker implantation

Q: What is the clinical evidence from this study?

Study design: Case Report. Population: Ankyrin-B syndrome / long QT phenotype with high-degree atrioventricular block (n=1). Intervention: ANK2 variant (NM_001148.4:c.5626G>A).

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Key result

ANK2 variant linked to long-QT and high-degree AV block requiring a leadless pacemaker.

Why the study?

Clinically significant atrioventricular block requiring permanent pacing in paediatric patients with Ankyrin-B syndrome has rarely been described.

Population

10-year-old boy with recurrent syncope, QT prolongation, persistent high-degree atrioventricular block, and an ANK2 variant

Design

Case report

Authors

JYJihye YouChonbuk National University Hospital

Discussion

Member takes

Implication

Supports genetic evaluation in unexplained pediatric AV block; leaves open broader ANK2 role pending larger studies.

Key Points

To report a case of high-degree atrioventricular block in a child associated with an ANK2 variant and long QT phenotype.
Detailed family phenotyping including genetic testing for ANK2 variant in members
Electrocardiography and continuous monitoring for detection of cardiac abnormalities
Assessment of arrhythmic manifestations and management strategies
A 10-year-old boy presented with recurrent syncope and seizure-like episodes.
Genetic testing revealed a heterozygous ANK2 variant of uncertain significance.
The case emphasizes the need for vigilant rhythm surveillance and individualized management in pediatric atrioventricular block.

Study Design

Type

Case Report (n=1)

Structured PICO

Population

A 10-year-old boy with recurrent syncope, QT prolongation, and persistent high-degree atrioventricular block.

Exposure

Leadless pacemaker implantation

Outcome

Clinical presentation and management of high-degree atrioventricular block

Highlights the rare presentation of clinically significant conduction disease requiring pacing in a pediatric patient with an ANK2 variant and long-QT phenotype.

Cite This Study

Jihye You (2026) conducted a case report in Ankyrin-B syndrome / long QT phenotype with high-degree atrioventricular block (n=1). ANK2 variant (NM_001148.4:c.5626G>A) was evaluated. A 10-year-old boy with a heterozygous ANK2 variant of uncertain significance presented with a long-QT phenotype and persistent high-degree atrioventricular block requiring a leadless pacemaker.

synapsesocial.com/papers/6a65a7b4d3aea3239cd7851d https://doi.org/10.1017/s1047951126123464

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July 26, 2026Cardiology in the Young

High-degree atrioventricular block in a child with an ANK2 variant and long QT phenotype requiring leadless pacemaker implantation

View Full Paper

Ask AI

Bookmark

Key result

ANK2 variant linked to long-QT and high-degree AV block requiring a leadless pacemaker.

Why the study?

Clinically significant atrioventricular block requiring permanent pacing in paediatric patients with Ankyrin-B syndrome has rarely been described.

Population

10-year-old boy with recurrent syncope, QT prolongation, persistent high-degree atrioventricular block, and an ANK2 variant

Design

Case report

Authors

JYJihye YouChonbuk National University Hospital

Discussion

Member takes

Implication

Supports genetic evaluation in unexplained pediatric AV block; leaves open broader ANK2 role pending larger studies.

Key Points

To report a case of high-degree atrioventricular block in a child associated with an ANK2 variant and long QT phenotype.
Detailed family phenotyping including genetic testing for ANK2 variant in members
Electrocardiography and continuous monitoring for detection of cardiac abnormalities
Assessment of arrhythmic manifestations and management strategies
A 10-year-old boy presented with recurrent syncope and seizure-like episodes.
Genetic testing revealed a heterozygous ANK2 variant of uncertain significance.
The case emphasizes the need for vigilant rhythm surveillance and individualized management in pediatric atrioventricular block.

Study Design

Type

Case Report (n=1)

Structured PICO

Population

A 10-year-old boy with recurrent syncope, QT prolongation, and persistent high-degree atrioventricular block.

Exposure

Leadless pacemaker implantation

Outcome

Clinical presentation and management of high-degree atrioventricular block

Highlights the rare presentation of clinically significant conduction disease requiring pacing in a pediatric patient with an ANK2 variant and long-QT phenotype.

Cite This Study

synapsesocial.com/papers/6a65a7b4d3aea3239cd7851d https://doi.org/10.1017/s1047951126123464

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

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