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August 19, 2014Pacing and Clinical Electrophysiology

Sudden Arrhythmic Death Syndrome: Diagnostic Yield of Comprehensive Clinical Evaluation of Pediatric First‐Degree Relatives

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Key result

Systematic clinical screening of pediatric first-degree relatives of sudden arrhythmic death syndrome victims identified an inherited cardiac disease in 13.5% of families.

Why the study?

What is the diagnostic yield of a comprehensive clinical screening protocol in pediatric first-degree relatives of sudden arrhythmic death syndrome victims?

Population

90 pediatric first-degree relatives from 52 consecutive families referred for family screening after sudden…

Design

Cohort

Authors

VGValentina GiudiciUniversity of MilanASA. SpanakiEvelina London Children's HealthcareJHJennifer HendryGreat Ormond Street Hospital

Discussion

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Implication

May support screening protocols for pediatric SADS relatives; leaves open need for prospective outcome validation.

Study Design

Type

Observational (n=90)

Structured PICO

What is the diagnostic yield of a comprehensive clinical screening protocol in pediatric first-degree relatives of sudden arrhythmic death syndrome victims?

P
Population
90 pediatric first-degree relatives from 52 families of sudden cardiac death victims undergoing systematic clinical screening.
E
Exposure
Systematic clinical screening protocol including clinical examination, family history, ECG, echocardiogram, 24-hour tape, signal-averaged ECG, and (in older patients) exercise testing, cardiac MRI, and ajmaline provocation testing.
O
Outcome
Identification of an inherited cardiac diseasesurrogate

Comprehensive clinical screening of pediatric first-degree relatives of SADS victims yields a diagnosis of inherited heart disease in 13.5% of families, highlighting the importance of systematic evaluation.

Cite This Study

Giudici et al. (2014) conducted an observational in Pediatric first-degree relatives of sudden arrhythmic death syndrome (SADS) victims (n=90). Systematic and comprehensive clinical screening protocol was evaluated on Identification of an inherited cardiac disease. Systematic clinical screening of pediatric first-degree relatives of sudden arrhythmic death syndrome victims identified an inherited cardiac disease in 13.5% of families.

synapsesocial.com/papers/6a963813b95bd3286dfb732dhttps://doi.org/10.1111/pace.12479
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Also Consider

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  1. 1De Novo Mutation in the SCN5A Gene Associated With Early Onset of Sudden Infant Death2001 · 176 citations
  2. 2Compound Mutations2004 · 316 citations
  3. 3Sudden cardiac death: clinical evaluation of paediatric family members2010 · 11 citations
  4. 4Clinical indications for genetic testing in familial sudden cardiac death syndromes: an HRUK position statement2007 · 42 citations
  5. 5Feasibility and outcomes of ajmaline provocation testing for Brugada syndrome in children in a specialist paediatric inherited cardiovascular diseases centre2014 · 26 citations