What is the clinical evidence from this study?

Study design: Observational. Population: Suspected genetic heart disease (cardiomyopathy, channelopathy, syndromic conditions) (n=210). Intervention: Genetic testing. Primary outcome: Diagnostic yield of genetic testing (pathogenic variants, VUS, negative).

What does this research mean for the field?

Genetic testing in pediatric cardiology patients yields positive results in 36.8% of suspected syndromic cases and 28.0% of suspected cardiomyopathy or channelopathy cases, though it also carries a high rate of variants of uncertain significance and incidental findings. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

To evaluate the clinical indications, diagnostic yield, and outcomes of genetic testing in pediatric patients referred to a specialized cardiology center.

September 15, 2026European Heart Journal Supplements

Cardiogenetics in Pediatric Age: Uses and Limitations

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Key result

Genetic testing yields positive results in ~37% of suspected syndromic pediatric cardiology patients.

n=210

Population

210 pediatric patients referred to a Pediatric Cardiology Center who underwent genetic testing between 2015…

Design

Cohort

Authors

SCS CatucciOspedale Pediatrico Giovanni XXIII MLM LombardiOspedale Pediatrico Giovanni XXIII AMA MaioranoOspedale Pediatrico Giovanni XXIII

Discussion

Member takes

Overview

Describes pediatric genetic testing patterns; leaves open standardization of indications and prospective yield assessment.

Key Points

To evaluate the clinical indications, diagnostic yield, and outcomes of genetic testing in pediatric patients referred to a specialized cardiology center.
Retrospectively evaluated 210 pediatric patients ranging from neonates to 17 years old who underwent genetic testing at a single pediatric cardiology center between 2015 and 2024.
Categorized genetic testing modalities by indication, including targeted familial variant testing, SNP arrays, targeted gene panels, and clinical exome sequencing evaluated under ACMG criteria.
Indications comprised suspected cardiomyopathy or channelopathy (66.2%), suspected syndromic conditions (18.1%), and positive family history of pathogenic variants (15.7%).
Genetic testing was positive in 36.8% of suspected syndromic cases (5.3% variants of uncertain significance) and 28.0% of suspected cardiomyopathy or channelopathy cases (35.3% variants of uncertain significance, 36.7% negative).
Testing uncovered unexpected actionable results—including an incidental RYR2 pathogenic variant during exome analysis for neurodevelopmental delay—and prompted longitudinal reclassification of a long QT syndrome variant from uncertain to pathogenic.

Study Design

Type

Observational (n=210)

Multicenter

Structured PICO

Population

210 pediatric patients aged from a few days to 17 years who underwent genetic testing for suspected genetic heart disease at a single center between 2015 and 2024.

Exposure

Genetic testing (targeted testing for known familiar variant, SNP array, targeted gene panel sequencing, and clinical exome analysis)

Outcome

Diagnostic yield of genetic testing (rates of positive, negative, and variants of uncertain significance)

Genetic testing in pediatric cardiology yields a definitive diagnosis in about 28-37% of cases depending on the indication, but also reveals a high rate of variants of uncertain significance, particularly in suspected cardiomyopathies and channelopathies.

Limitations

Risk of incidental findings with new sequencing technologies
Diagnosis may not be reached due to insufficient data in the literature

Cite This Study

Catucci et al. (2026) conducted an observational in Suspected genetic heart disease (cardiomyopathy, channelopathy, syndromic conditions) (n=210). Genetic testing was evaluated on Diagnostic yield of genetic testing (pathogenic variants, VUS, negative). Genetic testing in pediatric cardiology patients yielded positive results in 36.8% of suspected syndromic cases and 28.0% of suspected cardiomyopathy or channelopathy cases.

synapsesocial.com/papers/6aa9016aeed42882c1fc180e https://doi.org/10.1093/eurheartjsupp/suag058.178

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September 15, 2026European Heart Journal Supplements

Cardiogenetics in Pediatric Age: Uses and Limitations

View Full Paper

Ask AI

Bookmark

Key result

Genetic testing yields positive results in ~37% of suspected syndromic pediatric cardiology patients.

n=210

Population

210 pediatric patients referred to a Pediatric Cardiology Center who underwent genetic testing between 2015…

Design

Cohort

Authors

SCS CatucciOspedale Pediatrico Giovanni XXIII MLM LombardiOspedale Pediatrico Giovanni XXIII AMA MaioranoOspedale Pediatrico Giovanni XXIII

Discussion

Member takes

Overview

Describes pediatric genetic testing patterns; leaves open standardization of indications and prospective yield assessment.

Key Points

To evaluate the clinical indications, diagnostic yield, and outcomes of genetic testing in pediatric patients referred to a specialized cardiology center.
Retrospectively evaluated 210 pediatric patients ranging from neonates to 17 years old who underwent genetic testing at a single pediatric cardiology center between 2015 and 2024.
Categorized genetic testing modalities by indication, including targeted familial variant testing, SNP arrays, targeted gene panels, and clinical exome sequencing evaluated under ACMG criteria.
Indications comprised suspected cardiomyopathy or channelopathy (66.2%), suspected syndromic conditions (18.1%), and positive family history of pathogenic variants (15.7%).
Genetic testing was positive in 36.8% of suspected syndromic cases (5.3% variants of uncertain significance) and 28.0% of suspected cardiomyopathy or channelopathy cases (35.3% variants of uncertain significance, 36.7% negative).
Testing uncovered unexpected actionable results—including an incidental RYR2 pathogenic variant during exome analysis for neurodevelopmental delay—and prompted longitudinal reclassification of a long QT syndrome variant from uncertain to pathogenic.

Study Design

Type

Observational (n=210)

Multicenter

Structured PICO

Population

210 pediatric patients aged from a few days to 17 years who underwent genetic testing for suspected genetic heart disease at a single center between 2015 and 2024.

Exposure

Genetic testing (targeted testing for known familiar variant, SNP array, targeted gene panel sequencing, and clinical exome analysis)

Outcome

Diagnostic yield of genetic testing (rates of positive, negative, and variants of uncertain significance)

Limitations

Risk of incidental findings with new sequencing technologies
Diagnosis may not be reached due to insufficient data in the literature

Cite This Study

synapsesocial.com/papers/6aa9016aeed42882c1fc180e https://doi.org/10.1093/eurheartjsupp/suag058.178

Also Consider

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