title: Family-based cardiac screening in relatives of victims of sudden arrhythmic death syndrome.
abstract: OBJECTIVE
  Sudden arrhythmic death syndrome (SADS) occurs when a person suffers a sudden, unexpected death, with no cause found at postmortem examination. We aimed to describe the cardiac screening outcomes in a population of relatives of SADS victims
  
  
  RESULTS
  Prospective and retrospective cohort study of consecutive families attending the Family Heart Screening clinic at the Mater Misericordiae Hospital in Dublin, Ireland, from January 2007 to September 2011. Family members of SADS victims underwent a standard screening protocol. Adjunct clinical and postmortem information was sought on the proband. Families who had an existing diagnosis, or where the proband had epilepsy, were excluded. Of 115 families identified, 73 were found to fit inclusion criteria and were retained for analysis, with data available on 262 relatives. Over half of the screened family members were female, and the mean age was 38.6 years (standard deviation 15.6). In 22 of 73 families (30%), and 36 of 262 family members (13.7%), a potentially inheritable cause of SADS was detected. Of the population screened, 32 patients (12.2%) were treated with medication, and 5 (1.9%) have received implantable cardiac defibrillators. Of the five families with long QT syndrome (LQTS) who had a pathogenic gene mutation identified, three carried two such mutations.
  
  
  CONCLUSIONS
  In keeping with international estimates, 30% of families of SADS victims were found to have a potentially inherited cardiac disease. The most common positive finding was LQTS. Advances in postmortem standards and genetic studies may assist in achieving more diagnoses in these families.
authors: The Heart House, Mater Misericordiae University Hospital, Eccles Street, Dublin 7, Ireland. catherine.mcgorrian@ucd.ie
authors: Catherine
authors: C
authors: McGorrian
authors: Orla
authors: O
authors: Constant
authors: Nicola
authors: N
authors: Harper
authors: Catherine
authors: C
authors: O'Donnell
authors: Mary
authors: M
authors: Codd
authors: Edward
authors: E
authors: Keelan
authors: Andrew
authors: A
authors: Green
authors: James
authors: J
authors: O'Neill
authors: Joseph
authors: J
authors: Galvin
authors: Niall G
authors: NG
authors: Mahon
mesh_terms: D000328:Adult; D001145:Arrhythmias, Cardiac / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000401:mortality / Q000628:therapy; D001344:Autopsy; D002317:Cardiovascular Agents / Q000627:therapeutic use; D016757:Death, Sudden, Cardiac / Q000209:etiology* / Q000517:prevention & control; D017147:Defibrillators, Implantable; D004554:Electric Countershock / Q000295:instrumentation; D004562:Electrocardiography; D022062:Electrophysiologic Techniques, Cardiac; D005080:Exercise Test; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D040941:Heredity; D006801:Humans; D007494:Ireland; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D011237:Predictive Value of Tests; D011322:Primary Prevention / Q000379:methods; D011446:Prospective Studies; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D002317:Cardiovascular Agents
keywords: Cardiomyopathies; Channelopathies; Family screening; Primary prevention; Sudden adult death syndrome; Sudden cardiac death