Related Experiment Video
Updated: Sep 4, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Family History and Warning Symptoms Precede Sudden Cardiac Death in Arrhythmogenic Right Ventricular Cardiomyopathy
Angelica Maria Delgado-Vega1, Varvara Kommata2, Bodil Svennblad3
1Department of Immunology, Genetics, and Pathology, Uppsala University, Uppsala, Sweden.
Insights
Arrhythmogenic right ventricular cardiomyopathy (ARVC) often precedes sudden cardiac death (SCD) in young individuals. Many victims experienced cardiac symptoms and had a family history of SCD, highlighting the need for better early detection.
Area of Science:
- Cardiology
- Genetics
- Public Health
Background:
- Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart condition.
- ARVC accounts for approximately 4% of sudden cardiac death (SCD) in young individuals in Sweden.
Purpose of the Study:
- To investigate the circumstances preceding SCD in young ARVC victims.
- To identify warning signs for improved risk stratification and early diagnosis.
Main Methods:
- Retrospective nationwide study of 22 autopsy-confirmed ARVC cases (<35 years) from 2000-2010.
- Data collected from national registries, clinical records, family interviews, and autopsy reports.
- Comparison with age-, gender-, and geographically-matched population controls.
Main Results:
- 68% experienced cardiac symptoms (syncope, chest discomfort) within 6 months of death.
- 36% sought medical care for cardiac symptoms; hospital visits were significantly higher than controls.
- 45% had a family history of SCD; 41% died during exercise.
- Only 1 case was diagnosed with ARVC before death.
Conclusions:
- Young SCD victims with ARVC often exhibit preceding cardiac symptoms, increased healthcare utilization, and a family history of SCD.
- Enhanced awareness of these warning signs is crucial for early detection and risk stratification.
- Improved diagnostic strategies are needed to identify ARVC before fatal events occur.
Abstract:
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disease explaining about 4% of sudden cardiac death (SCD) cases in the young in Sweden. This study aimed to describe the circumstances preceding SCD in all victims <35 years of age who received an autopsy-confirmed diagnosis of ARVC from January 1, 2000, to December 31, 2010, in Sweden (n = 22). Data on demographics, medical and family history, circumstances of death, and anatomopathological findings were collected from several compulsory national health registries, clinical records, family interviews, and autopsy reports. Registry-based data were compared with age-matched, gender-matched, and geographically-matched population controls. During the 6 months preceding SCD, 15 cases (68%) had experienced symptoms of cardiac origin, mainly syncope or presyncope (54%) and chest discomfort (27%). A total of 8 cases (36%) had sought medical care because of cardiac symptoms. The occurrence of hospital visits was significantly increased in cases compared with controls (odds ratio 4.62 [1.35 to 15.8]). A total of 10 cases (45%) had a family history of SCD. The most common activity at the time of death was exercise (41%). A complete cardiac investigation was seldom performed; only 1 case was diagnosed with ARVC before death. In conclusion, in this nationwide study, we observed a high prevalence of symptoms of cardiac origin, healthcare use, and family history of SCD preceding SCD in the young caused by ARVC. Increased awareness of these warning signals in younger patients is critical to improving risk stratification and early disease detection.
More Related Videos
Related Concept Videos
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Dysrhythmias V: Evaluating Dysrhythmias
Cardiomyopathy I: Introduction and Classification
Coronary Artery Disease III: Clinical Manifestations
Dysrhythmias II: Classification of Tachyarrhythmias
Introduction Cardiac Emergencies

