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The clinical and genetic spectrum of pediatric hypertrophic cardiomyopathy manifesting before one year of age

Pediatric Research volume 98, pages 1301–1312 (2025)Cite this article

Abstract

Background

Hypertrophic cardiomyopathy (HCM) presents a wide range of clinical scenarios depending on the age of manifestation, with a less favorable prognosis in children. The genetic spectrum and clinical causes of HCM diagnosed before one year of age is rarely reported.

Methods

We analyzed the genetic causes and genotype-phenotype correlations in 68 children diagnosed with HCM during the first year of life. Genetic analysis was performed using targeted gene sequencing (39 HCM-related genes), followed by whole-exome sequencing for genotype-negative cases. The genetic data were correlated with clinical characteristics, disease progression, and prognosis.

Results

The overall genotype-positive rate was 81%, with an equal proportion of sarcomeric (29%) and RAS-related genetic cases (29%). Gestational diabetes in mothers was more frequently observed in children with variants in Z-disc-related genes. Overall, one year-survival rate from all causes was 91.2%, with the best survival outcomes associated with sarcomeric and Z-disk-related gene variants.

Conclusion

HCM manifesting in children before one year of age showed an approximately equal proportion of sarcomeric and RAS cascade-related cases. A more favorable prognosis was associated with sarcomeric mutations; whereas metabolic gene-related HCM cases were characterized by the highest one-and five-year mortality due to heart failure.

Impact

  • We analyzed the genetic causes and genotype-phenotype correlations in 68 children diagnosed with HCM during the first year of life.

  • Patients with sarcomeric mutations demonstrated a more favorable prognosis, whereas metabolic gene-related HCM cases were the highest one- and five-year mortality rates due to HF.

  • We identified several factors associated with unfavorable outcomes, including LV thickness, HF class, elevated troponin, increased NT-proBNP levels, and RV hypertrophy.

  • We proposed several new and previously unreported genes, such as ROBO4 and KMT2D, as potentially causative for infantile HCM. The true role of these genes in this disease requires confirmation.

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Fig. 1
Fig. 2: Etiology of hypertrophic cardiomyopathy in infants.
Fig. 3: Kaplan−Meier survival probabilities.

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Data availability

The data used to support the findings of this study are available from the corresponding author upon reasonable request.

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Acknowledgements

This work was financially supported by the Ministry of Science and Higher Education of the Russian Federation (Agreement No. 075-15-2022-301).

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Authors and Affiliations

  1. Research Centre for Personalized Medicine, Almazov National Medical Research Centre, 197341, Saint Petersburg, Russia

    Svetlana Fetisova, Olesya Melnik, Elena Vasichkina, Olga Kofeynikova, Yulia Fomicheva, Polina Sokolnikova, Sergey Zhuk & Anna Kostareva

  2. Department of Pediatric Cardiology, Almazov National Medical Research Centre, 197341, Saint Petersburg, Russia

    Svetlana Fetisova, Elena Vasichkina, Tatyana Vershinina & Olga Kofeynikova

  3. Institute of Perinatology and Pediatrics, Almazov National Medical Research Centre, Saint Petersburg, Russia

    Svetlana Fetisova, Elena Vasichkina, Tatyana Vershinina, Olga Kofeynikova & Tatyana Pervunina

  4. Institute of Molecular biology and Genetics, Almazov National Medical Research Centre, Saint Petersburg, Russia

    Olesya Melnik, Alexandra Kozyreva, Yulia Fomicheva, Polina Sokolnikova & Anna Kostareva

  5. Department of Women’s and Children’s Health and Center for Molecular Medicine, Karolinska Institutet (KI), Solna, Sweden

    Anna Kostareva

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  1. Svetlana Fetisova
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Contributions

F.S.G., M.O.V. made substantial contributions to the conception and design of the study, acquisition, analysis, and interpretation of the data and drafting of the initial manuscript. K.A.A., V.E.S. made substantial contributions to the study design and data analysis, and interpretation of the data and reviewed and edited the manuscript. V.T.L., K.O.A., K.A.A., F.Yu.V., S.P.S., Z.S.V., P.T.M. participated in data analyses and interpretation and critically revised and approved the final draft. F.S.G. is the guarantor of this work and, as such, had full access to all the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis.

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Correspondence to Svetlana Fetisova.

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The study was approved by the Ethics Committee of the Almazov National Medical Research Centre (Protocol №01-23 dated 23.01.23) according to the Helsinki Declaration. Written consent was retrieved from the participating children’s guardians.

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Fetisova, S., Melnik, O., Vasichkina, E. et al. The clinical and genetic spectrum of pediatric hypertrophic cardiomyopathy manifesting before one year of age. Pediatr Res 98, 1301–1312 (2025). https://doi.org/10.1038/s41390-025-03989-z

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