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Published on: April 5, 2011
Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome
Insights
Sudden arrhythmic death syndrome (SADS) cases often have no clear cause. Genetic heart conditions were found in 22% of SADS families, highlighting the need for specialized cardiac assessments.
Area of Science:
- Cardiology
- Genetics
- Pathology
Background:
- Sudden cardiac death (SCD) in young adults (16-64) is often unexplained, with normal pathology and toxicology.
- This unexplained SCD group is termed sudden arrhythmic death syndrome (SADS).
Purpose of the Study:
- To investigate the prevalence of inherited cardiac diseases (ICD) in families affected by SADS.
Main Methods:
- Cardiological assessment of 109 first-degree relatives from 32 SADS families.
- Analysis of family history and clinical data to identify specific inherited cardiac conditions.
Main Results:
- Seven out of 32 families (22%) were diagnosed with an ICD.
- Diagnoses included Long QT syndrome (4 families), non-structural cardiac electrophysiological disease (1 family), myotonic dystrophy (1 family), and hypertrophic cardiomyopathy (1 family).
Conclusions:
- A significant proportion of SADS cases are attributable to underlying inherited cardiac diseases.
- Families of SADS victims should be referred for expert cardiological assessment to identify potential genetic heart conditions.
Abstract:
4.1% of sudden cardiac deaths in the 16-64 age-group are unexplained. In this group, cardiac pathological findings are normal and toxicological tests are negative; termed sudden arrhythmic death syndrome (SADS). We searched for evidence of inherited cardiac disease in cases of SADS. Of 147 first-degree relatives of 32 people who died of SADS, 109 (74%) underwent cardiological assessment. Seven (22%) of the 32 families were diagnosed with inherited cardiac disease: four with long QT syndrome; one with non-structural cardiac electrophysiological disease; one with myotonic dystrophy; and one with hypertrophic cardiomyopathy. Families of people who die of SADS should be offered assessment in centres with experience of inherited cardiac disease.
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