Related Experiment Video

Updated: Jul 7, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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A New Inherited Syndrome Causing Sudden Cardiac Death with Distinct ST-Segment Depression and Ankyrin-2-Mutation

Hubertus von Korn1, Cristina Basso2, Kalliopi Pilichou2

  • 1Department of Cardiology, Marienhaus Klinikum Hetzelstift, Neustadt, Weinstraße, 67434, Germany.

The Application of Clinical Genetics
|December 26, 2023
PubMed

Insights

A newly identified inherited syndrome causes sudden cardiac death (SCD) in young individuals. This distinct condition is characterized by specific ECG changes and genetic mutations in the ANK2 and MYO18 genes.

Area of Science:

  • Cardiology
  • Genetics
  • Pathology

Background:

  • Sudden cardiac death (SCD) is a significant concern, particularly in individuals under 35.
  • Genetically determined cardiac diseases, including cardiomyopathies and ion-channel disorders, are frequent causes of sudden arrhythmic death in younger populations.

Purpose of the Study:

  • To investigate a case of SCD in a young male with specific ECG abnormalities and left ventricular hypertrophy.
  • To identify the underlying genetic cause of SCD in a family with a history of sudden deaths.

Main Methods:

  • A comprehensive analysis involving autopsy, molecular autopsy, whole-exome sequencing, pedigree analysis, and family member examinations.
  • International multidisciplinary expert panel review of the index patient and affected relatives.

Main Results:

  • The index patient and five paternal relatives exhibited specific ECG changes (ST-depression).
  • Genetic analysis revealed two nucleotide variations (ANK2: c.11791G>A, MYO18B: c.3761G>A) in the index patient, also present in five relatives.
  • Two family members presented with all indicators of an inherited syndrome, including distinct ECG and genetic changes.

Conclusions:

  • A novel inherited syndrome linked to SCD has been identified.
  • This syndrome is characterized by specific ECG alterations and mutations in the ANK2 and MYO18 genes.
Abstract

Keywords:
MYO18ST-segment depressionankyrin 2inherited syndromeion channel disordersudden cardiac death

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