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Etiology of sudden death in the community: Results of anatomical, metabolic, and genetic evaluation - 07/08/11

Doi : 10.1016/j.ahj.2009.10.019 
A. Selcuk Adabag, MD, MS a, b, , Garry Peterson, MD, JD c, Fred S. Apple, PhD d, Jack Titus, MD e, Richard King, MD, PhD f, Russell V. Luepker, MD, MS a
a Division of Epidemiology and Community Health, School of Public Health, University of Minnesota, Minneapolis, MN 
b Division of Cardiology, Veterans Affairs Medical Center, Minneapolis, MN 
c Hennepin County Medical Examiner's Office, Minneapolis, MN 
d Department of Laboratory Medicine and Pathology, Hennepin County Medical Center, University of Minnesota, Minneapolis, MN 
e Jesse E. Edwards Registry of Cardiovascular Disease, St. Paul, MN 
f Institute of Human Genetics, University of Minnesota, Minneapolis, MN 

Reprint requests: A. Selcuk Adabag, MD, MS, Veterans Affairs Medical Center, Section of Cardiology (111 C), One Veterans Dr, Minneapolis, MN 55417.

Riassunto

Background

Identifying persons at risk for sudden cardiac death (SCD) is challenging. A comprehensive evaluation may reveal clues about the clinical, anatomical, genetic, and metabolic risk factors for SCD.

Methods

Seventy-one patients who had SCD (25-60 years old) without an initially apparent cause of death were evaluated at the Hennepin County Medical Examiner's office (Minneapolis, MN) from August 2001 to July 2004. We reviewed their clinic records conducted next-of-kin interviews and performed autopsy, laboratory testing, and genetic analysis for mutations in genes associated with the long QT syndrome.

Results

Mean age was 49.5 ± 7 years, 86% were male, and 2 subjects had history of coronary heart disease (CHD). Coronary risk factors were highly prevalent in comparison to individuals of the same age group in this community (eg, smoking 61%, hypertension 27%, hyperlipidemia 25%) but inadequately treated. On autopsy, 80% of the subjects had high-grade coronary stenoses. Acute coronary lesions and previous silent myocardial infarction (MI) were found in 27% and 34%, respectively. Furthermore, 32% of the subjects had recently smoked cigarettes, and 50% had ingested analgesics. Possible deleterious mutations of the ion channel genes were detected in 5 subjects (7%). Of these, 4 were in the sodium channel gene SCN5A.

Conclusions

Most of the persons who had SCD in the community had severe subclinical CHD, including undetected previous MI. Traditional coronary risk factors were prevalent and undertreated. Mutations in the long QT syndrome genes were detected in a few subjects. These findings imply that improvements in the detection and treatment of subclinical CHD in the community are needed to prevent SCD.

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Vol 159 - N° 1

P. 33-39 - Gennaio 2010 Ritorno al numero
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