The role of genetic examination in the diagnosis of causes of circulatory arrest in a young patient without structural heart disease
Abstract
Diagnosing of the cause of out-of-hospital cardiac arrest in young patients < 35 years old is challenging. Some disorders leading to cardiac arrest have monogenic type of heredity - cardiomyopathies, channelopathies.
Diagnostic process may be complicated by low penetrance of causal gene mutation and variable expression. Sudden cardiac death or cardiac arrest often appear as the first clinical manifestation or arrhythmogenic cardiomyopathy before the development of obvious structural heart disease.
The case report presents 27-year-old male athlete who underwent out-of-hospital cardiac arrest with successful cardiopulmonary resuscitation during soccer match. Despite the fact that there were no signs of structural heart impairment according to cardiac imaging and diagnostic criteria for arrhythmogenic right ventricular cardiomyopathy were not fulfilled, genetic testing using next-generation DNA sequencing revealed gene mutation in desmosome protein plakophilin 2, which represents the most frequent molecular background of arrhythmogenic cardiomyopathy.
Extension of molecular testing in cardiology may contribute to more precise detection of the causal disease in young surviving patients who experienced cardiac arrest, as well as better risk stratification of their relatives.