Identification of a Novel De Novo HECW2 Gene Pathogenic Variant in a Fetus With Cardiac Abnormalities

Q: What is the clinical evidence from this study?

Study design: Case Report. Population: Fetal cardiac abnormalities (hypertrophic cardiomyopathy, hydrops fetalis) (n=1). Intervention: HECW2 gene pathogenic variant (c.4511C > T, p.(Ser1504Phe)). Primary outcome: Identification of genetic etiology.

Q: What does this research mean for the field?

A novel de novo pathogenic variant in the HECW2 gene is associated with fetal cardiac abnormalities. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

Kristina Nimchenko; Bettina Bessières; Gihad El chalouhi; Antonia Pop; Vanina Castaigne; Bertrand Stos; M Beaujard; Diane Roy; Daniéla Laux; Tania Attié‐Bitach

doi:10.1002/pd.70226

July 23, 2026Prenatal DiagnosisOpen Access

Identification of a Novel De Novo HECW2 Gene Pathogenic Variant in a Fetus With Cardiac Abnormalities

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Key result

Novel de novo HECW2 variant identified as cause of severe fetal hypertrophic cardiomyopathy.

n=1

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Why the study?

HECW2 pathogenic variants have been linked to neurodevelopmental disorders, but their role in fetal cardiac abnormalities and cardiomyopathy remains unclear.

Key Points

To identify the underlying genetic cause of severe prenatal cardiomyopathy, structural heart anomalies, and hydrops fetalis leading to fetal death.
Prenatal ultrasound and fetal echocardiography were conducted at 21, 24, and 33 gestational weeks.
Post-mortem fetopathological and histopathological examinations were performed following fetal demise at 34 weeks of gestation.
Trio-based genome sequencing was performed on DNA extracted from fetal tissue (34 + 3 gestational weeks) and parental blood, followed by Sanger sequencing confirmation.
Genome sequencing identified a heterozygous de novo missense variant in HECW2 (c.4511C > T, p.(Ser1504Phe)) situated within the HECT catalytic domain and classified as pathogenic.
Fetopathological examination confirmed biventricular hypertrophic cardiomyopathy, pulmonary artery stenosis, tricuspid valve hypoplasia, right ventricular fibroelastosis, and hydrops fetalis.

Study Design

Type

Case Report (n=1)

Structured PICO

P

Population

1 female fetus presenting with severe cardiac abnormalities including hypertrophic cardiomyopathy and hydrops fetalis, resulting in fetal death at 34 gestational weeks.

E

Exposure

Trio-based genome sequencing identifying a de novo HECW2 pathogenic variant (c.4511C > T, p.(Ser1504Phe))

O

Outcome

Identification of the genetic etiology of the fetal cardiac phenotype

This case expands the phenotypic spectrum of HECW2 mutations to include severe prenatal hypertrophic cardiomyopathy and hydrops fetalis.

Implication

May warrant HECW2 testing in unexplained fetal HCM with hydrops; extends phenotypic spectrum but leaves open broader adoption.

Abstract

Summary What's already known about this topic? What does this study add?

Discussion

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Cite This Study

Nimchenko et al. (2026) conducted a case report in Fetal cardiac abnormalities (hypertrophic cardiomyopathy, hydrops fetalis) (n=1). HECW2 gene pathogenic variant (c.4511C > T, p.(Ser1504Phe)) was evaluated on Identification of genetic etiology. A novel de novo HECW2 pathogenic variant (c.4511C > T) was identified as the cause of severe fetal hypertrophic cardiomyopathy and hydrops fetalis.

synapsesocial.com/papers/6a65a49fd3aea3239cd7729c https://doi.org/10.1002/pd.70226

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Identification of a Novel De Novo HECW2 Gene Pathogenic Variant in a Fetus With Cardiac Abnormalities

Figures

Key Points

Study Design

Structured PICO

Implication

Abstract

Discussion

Cite This Study

Identification of a Novel De Novo HECW2 Gene Pathogenic Variant in a Fetus With Cardiac Abnormalities

Figures

Key Points

Study Design

Structured PICO

Implication

Abstract

Discussion

Cite This Study

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