lunes, 12 de noviembre de 2012

Community Detection of Long QT Syndrome with a ... [Heart Rhythm. 2012] - PubMed - NCBI

Community Detection of Long QT Syndrome with a ... [Heart Rhythm. 2012] - PubMed - NCBI
Heart Rhythm. 2012 Oct 31. pii: S1547-5271(12)01263-5. doi: 10.1016/j.hrthm.2012.10.043. [Epub ahead of print]

Community Detection of Long QT Syndrome with a Clinical Registry: An Alternative to ECG Screening Programs?


Department of Medicine, Faculty of Medical and Health Sciences, University of Auckland, New Zealand.



Long QT syndrome (LQTS) prevalence is estimated at 4/10,000 based on community ECG screening, about which there is disagreement regarding efficacy, accuracy, cost-effectiveness and practicality. Family studies of autosomal dominant conditions like LQTS have revealed 8-9 gene positive family members per proband.


This report evaluates a cardiac/genetic registry and family screening program as a tool to identify LQTS in the community.


Possible LQTS probands were referred to the New Zealand Cardiac Inherited Disease service. The registry was first established in the Northern region (population 2.03 million), including central Auckland (population 0.46 million). After clinical evaluation, genetic testing and family cascade screening were initiated. Genotype positive individuals were classified as definite LQTS, others were classified as definite or probable LQTS by clinical and ECG criteria.


112 probands were identified (presentation: sudden death = 7, cardiac event = 82, ECG abnormality = 16, sudden death of a family member = 7). Following cascade screening, 309 patients with LQTS were identified (248 definite and 61 probable). 220 had LQTS-causing mutations identified (120 (55%) LQT1, 78 (35%) LQT2, 19 (9%) LQT3, 1 (0.5%) LQT 5, 2 (1%) LQT7). Thus far, an average of 2.1 definitely or probably affected family members have been identified per proband. The community detection rate is 1.5/10,000 for the whole region and 2.2/10,000 in Auckland.


A high level of community detection of LQTS is possible using a clinical registry. With adequate resourcing, this has the potential to be an effective alternative to community ECG screening.
Copyright © 2012. Published by Elsevier Inc.
[PubMed - as supplied by publisher]

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