What question did this study set out to answer?

The research aims to identify pathogenic variants associated with familial congenital heart disease using targeted next-generation sequencing.

July 1, 2026Journal of the American College of Cardiology

Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Familial Congenital Heart Disease

Q: What is the clinical evidence from this study?

Study design: Case-Control. Population: Familial Congenital Heart Disease (n=31). Intervention: Targeted next-generation sequencing gene panel vs. Control subjects. Primary outcome: Likely molecular diagnosis (disease-causing variants segregating with disease phenotype).

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Key result

Targeted gene panel identifies likely causative variants in ~31% of familial congenital heart disease.

n=31

Why the study?

Does a targeted next-generation sequencing gene panel identify causal variants in families with congenital heart disease?

Population

Probands in 16 families with strong congenital heart disease (CHD) histories and 15 control subjects (n=31)

Comparison

Targeted next-generation sequencing gene panel… vs 15 control subjects

Design

Case-control

Authors

GBGillian M. BlueThe University of Sydney EKEdwin P. KirkBoston Children's Hospital EGEleni GiannoulatouAdult Congenital Heart Disease

Discussion

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Implication

A targeted next-generation sequencing gene panel can identify a likely molecular diagnosis in up to 31% of families with a strong history of congenital heart disease.

Key Points

The research aims to identify pathogenic variants associated with familial congenital heart disease using targeted next-generation sequencing.
Utilized targeted next-generation sequencing to analyze genetic variants in familial cases of congenital heart disease.
Evaluated familial patterns to link identified variants to hereditary conditions.
Identified several pathogenic variants in genes previously associated with congenital heart disease.
Demonstrated a significant correlation between these variants and disease presentation in affected families.

Study Design

Type

Case-Control (n=31)

Structured PICO

Does a targeted next-generation sequencing gene panel identify causal variants in families with congenital heart disease?

Population

16 probands from families with strong congenital heart disease histories and 15 control subjects.

Exposure

Targeted next-generation sequencing gene panel for 57 genes previously implicated in CHD

Comparator

15 control subjects

Outcome

Identification of potential disease-causing variants and disease segregationsurrogate

A targeted next-generation sequencing gene panel can identify a likely molecular diagnosis in up to 31% of families with a strong history of congenital heart disease.

Cite This Study

Blue et al. (2014) conducted a case-control in Familial Congenital Heart Disease (n=31). Targeted next-generation sequencing gene panel vs. Control subjects was evaluated on Likely molecular diagnosis (disease-causing variants segregating with disease phenotype). A targeted next-generation sequencing gene panel identified likely disease-causing variants in 31% of families with a strong history of congenital heart disease.

synapsesocial.com/papers/6a458452a36e37cc02f2286a https://doi.org/10.1016/j.jacc.2014.09.048

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Implication

A targeted next-generation sequencing gene panel can identify a likely molecular diagnosis in up to 31% of families with a strong history of congenital heart disease.

Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Familial Congenital Heart Disease

Discussion

Member takes

Implication

Key Points

Study Design

Structured PICO

Cite This Study

Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Familial Congenital Heart Disease

Discussion

Member takes

Implication

Key Points

Study Design

Structured PICO

Cite This Study

Also Consider

Also Consider