Family-based cardiac screening in relatives of victims of sudden arrhythmic death syndrome.

Hdl Handle:
http://hdl.handle.net/10147/270554
Title:
Family-based cardiac screening in relatives of victims of sudden arrhythmic death syndrome.
Authors:
McGorrian, Catherine; Constant, Orla; Harper, Nicola; O'Donnell, Catherine; Codd, Mary; Keelan, Edward; Green, Andrew; O'Neill, James; Galvin, Joseph; Mahon, Niall G
Affiliation:
The Heart House, Mater Misericordiae University Hospital, Eccles Street, Dublin 7, Ireland.
Citation:
Family-based cardiac screening in relatives of victims of sudden arrhythmic death syndrome. 2013: Europace
Journal:
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
Issue Date:
3-Feb-2013
URI:
http://hdl.handle.net/10147/270554
DOI:
10.1093/europace/eus408
PubMed ID:
23382499
Additional Links:
http://europace.oxfordjournals.org/content/early/2013/02/03/europace.eus408.long
Abstract:
AIMS: 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 victimsMETHODS AND 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.CONCLUSION: 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.
Item Type:
Article
Language:
en
ISSN:
1532-2092

Full metadata record

DC FieldValue Language
dc.contributor.authorMcGorrian, Catherineen_GB
dc.contributor.authorConstant, Orlaen_GB
dc.contributor.authorHarper, Nicolaen_GB
dc.contributor.authorO'Donnell, Catherineen_GB
dc.contributor.authorCodd, Maryen_GB
dc.contributor.authorKeelan, Edwarden_GB
dc.contributor.authorGreen, Andrewen_GB
dc.contributor.authorO'Neill, Jamesen_GB
dc.contributor.authorGalvin, Josephen_GB
dc.contributor.authorMahon, Niall Gen_GB
dc.date.accessioned2013-02-27T10:24:49Z-
dc.date.available2013-02-27T10:24:49Z-
dc.date.issued2013-02-03-
dc.identifier.citationFamily-based cardiac screening in relatives of victims of sudden arrhythmic death syndrome. 2013: Europaceen_GB
dc.identifier.issn1532-2092-
dc.identifier.pmid23382499-
dc.identifier.doi10.1093/europace/eus408-
dc.identifier.urihttp://hdl.handle.net/10147/270554-
dc.description.abstractAIMS: 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 victimsMETHODS AND 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.CONCLUSION: 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.en_GB
dc.languageENG-
dc.language.isoenen
dc.relation.urlhttp://europace.oxfordjournals.org/content/early/2013/02/03/europace.eus408.longen_GB
dc.rightsArchived with thanks to Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiologyen_GB
dc.titleFamily-based cardiac screening in relatives of victims of sudden arrhythmic death syndrome.en_GB
dc.typeArticleen
dc.contributor.departmentThe Heart House, Mater Misericordiae University Hospital, Eccles Street, Dublin 7, Ireland.en_GB
dc.identifier.journalEuropace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiologyen_GB
dc.description.provinceLeinsteren

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