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Atrial standstill in a young patient with ischemic stroke associated with inheritance of a novel HCN4 mutation

Abhinav B Anand1, Bhavik S Shah1, Girish R Sabnis1

  • 1Department of Cardiology Seth GS Medical College and KEM Hospital Mumbai India.

Journal of Arrhythmia
|December 13, 2024
PubMed

Insights

A mutation in the HCN4 gene can cause atrial standstill, a condition where the heart

Area of Science:

  • Cardiology
  • Genetics
  • Neurology

Background:

  • Atrial standstill is a rare cardiac arrhythmia.
  • Genetic factors are implicated in various cardiac conditions.
  • Young-onset stroke requires investigation into underlying causes.

Purpose of the Study:

  • To report a case of HCN4 gene mutation.
  • To describe the clinical presentation of atrial standstill and stroke in a young patient.
  • To highlight the genetic basis of cardiac arrhythmias.

Main Methods:

  • Case report.
  • Genetic sequencing of the HCN4 gene.
  • Clinical assessment including electrocardiography and neurological evaluation.

Main Results:

  • Identification of a novel HCN4 gene mutation.
  • Confirmation of atrial standstill as the cause of the patient's symptoms.
  • Association of the mutation with stroke in a young individual.

Conclusions:

  • HCN4 gene mutations can lead to severe cardiac and neurological complications.
  • Genetic testing is crucial for diagnosing young-onset stroke with cardiac symptoms.
  • This case expands the known spectrum of HCN4-related disorders.

Keywords:
HCN4 geneSCN5A geneatrial standstillfamilial sick sinus syndromeyoung stroke

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