Table 21 Inclusion criteria for identification of studies relevant to assessment of a change in patient management as a result of molecular testing for long QT syndrome (family members) Characteristic Criteria design Randomised or non-randomised controlled trials or cohort studies, uncontrolled case series, or systematic reviews of these study designs Population Patients with a relative with a known LQTS mutation Intervention/test Molecular testing for clinical relevant mutations, ie KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1 or SCN5A mutations + ECG (Schwartz score) ± exercise stress test and Holter monitoring Comparator ECG (Schwartz score) ± exercise stress test and Holter monitoring Outcome of treatment, method of treatment, rates of referral, type of referral, rate of hospitalisation, rates of consultation Search period 1991 May 2011 – Language Non-English language articles will be excluded unless they appear to provide a higher of evidence than the English language articles identified Broad inclusion criteria for studies assessing the health impact of a change in patient management in family members is outlined in Table 22. Targeted treatment with potassium supplementation or sodium channel blockers would be assessed using the inclusion criteria outlined in Table 18 and Table 19. In the proposed pathway, some family members will be ruled out of having a pathogenic mutation. They therefore may avoid the need for prophylactic treatment and lifelong surveillance. Table 23 outlines the inclusion criteria for assessing the health impact of no treatment versus treatment within the population with no pathogenic mutation. However, it would be unethical to treat asymptomatic family members who are known to be free from a pathogenic mutation. Studies meeting the PICO criteria in Table 23 are therefore unlikely to exist, unless they provide retrospective data, ie evaluating treatment prior to knowledge of mutation status.
Table 21 Inclusion criteria for identification of studies relevant to assessment of a change in patient management as a result of molecular testing for long QT syndrome (family members) Characteristic Criteria design Randomised or non-randomised controlled trials or cohort studies, uncontrolled case series, or systematic reviews of these study designs Population Patients with a relative with a known LQTS mutation Intervention/test Molecular testing for clinical relevant mutations, ie KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1 or SCN5A mutations + ECG (Schwartz score) ± exercise stress test and Holter monitoring Comparator ECG (Schwartz score) ± exercise stress test and Holter monitoring Outcome of treatment, method of treatment, rates of referral, type of referral, rate of hospitalisation, rates of consultation Search period 1991 – May 2011 Language Non-English language articles will be excluded unless they appear to provide a higher of evidence than the English language articles identified Broad inclusion criteria for studies assessing the health impact of a change in patient management in family members is outlined in Table 22. Targeted treatment with potassium supplementation or sodium channel blockers would be assessed using the inclusion criteria outlined in Table 18 and Table 19. In the proposed pathway, some family members will be ruled out of having a pathogenic mutation. They therefore may avoid the need for prophylactic treatment and lifelong surveillance. Table 23 outlines the inclusion criteria for assessing the health impact of no treatment versus treatment within the population with no pathogenic mutation. However, it would be unethical to treat asymptomatic family members who are known to be free from a pathogenic mutation. Studies meeting the PICO criteria in Table 23 are therefore unlikely to exist, unless they provide retrospective data, ie evaluating treatment prior to knowledge of mutation status.
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