What is the clinical evidence from this study?

Study design: Observational. Population: Inherited cardiac arrhythmias (LQTS and HCM) (n=1110). Intervention: Family screening and genetic counselling. Primary outcome: Referral for cardiologic follow-up and treatment.

What does this research mean for the field?

Family screening for inherited cardiac arrhythmias effectively identifies at-risk relatives requiring prophylactic treatment, but preliminary evidence of psychological distress in parents underscores the urgent need for standardized clinical guidelines. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

Investigate the effectiveness of family screening for inherited cardiac arrhythmias and evaluate its psychological impacts.

January 1, 2004Annals of MedicineOpen Access

Family and population strategies for screening and counselling of inherited cardiac arrhythmias

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Key result

Family screening and genetic counselling for inherited cardiac arrhythmias in 1110 individuals identified 345 relatives requiring cardiologic follow-up, of whom 189 received treatment.

Population

1110 individuals, including 842 relatives of index patients with inherited cardiac arrhythmias

Design

Cohort

Authors

ILIrene M. van LangenMACOM (United States)NHNynke HofmanElectrophysiology HTHanno L. TanElectrophysiology

Discussion

Member takes

Implication

Supports family screening to identify treatable arrhythmia relatives; leaves open need for RCTs on outcomes and harms.

Key Points

Investigate the effectiveness of family screening for inherited cardiac arrhythmias and evaluate its psychological impacts.
Conducted in multidisciplinary outpatient academic clinics in The Netherlands.
Involved genetic counselling and molecular testing for 1110 individuals, including 842 relatives of index patients.
Analyzed psychological and social consequences using Wilson and Jüngner's criteria.
Of 345 relatives referred for cardiologic follow-up, 189 are being treated due to increased arrhythmia risk.
Preliminary psychological research indicates high levels of distress in parents of children at risk for long QT syndrome.
Need for clinical guidelines highlighted due to challenges in evaluating family screening feasibility.

Study Design

Type

Observational (n=1,110)

Multicenter

Yes

Structured PICO

Population

1110 individuals, including 842 relatives of index patients with inherited cardiac arrhythmias (long QT syndrome and hypertrophic cardiomyopathy)

Intervention

Family screening, genetic counselling, and molecular/clinical testing

Outcome

Carriership of the disease, referral for cardiologic follow-up, and treatment initiation

Family screening and genetic counselling for inherited cardiac arrhythmias successfully identifies at-risk relatives requiring treatment, though it may cause psychological distress.

Limitations

Final conclusions about the feasibility of family screening are difficult, particularly in HCM
Clinical guidelines are urgently needed
Parents of children at risk for LQTS show high levels of distress

Cite This Study

Langen et al. (2004) conducted an observational in Inherited cardiac arrhythmias (LQTS and HCM) (n=1,110). Family screening and genetic counselling was evaluated on Referral for cardiologic follow-up and treatment. Family screening and genetic counselling for inherited cardiac arrhythmias in 1110 individuals identified 345 relatives requiring cardiologic follow-up, of whom 189 received treatment.

synapsesocial.com/papers/6a08aba61e8b9db648de2373 https://doi.org/10.1080/17431380410032526

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Family and population strategies for screening and counselling of inherited cardiac arrhythmias

Discussion

Member takes

Implication

Key Points

Study Design

Structured PICO

Limitations

Cite This Study

Family and population strategies for screening and counselling of inherited cardiac arrhythmias

Discussion

Member takes

Implication

Key Points

Study Design

Structured PICO

Limitations

Cite This Study

Also Consider

Also Consider