Adolescent with Unexplained Cardiac  Hypertrophy, Ventricular Pre-Excitation,  Conduction System Disease: PRKAG2 Cardiac  Syndrome as a Rare Mimicker of Hypertrophic  Cardiomyopathy

Guo, Yafeng; Yi, Dong; Liu, Daoquan; Fan, Qingkun; Ma1, Zhaokun; Wang, Li; Chen, Hongxu; Wang, Bingyin; Yan, Hua

doi:10.14744/AnatolJCardiol.2025.5695

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Adolescent with Unexplained Cardiac Hypertrophy, Ventricular Pre-Excitation, Conduction System Disease: PRKAG2 Cardiac Syndrome as a Rare Mimicker of Hypertrophic Cardiomyopathy

Yafeng Guo ¹ , Dong Yi ¹ , Daoquan Liu ¹ , Qingkun Fan ² , Zhaokun Ma1 ¹ , Li Wang ³ , Hongxu Chen ¹ , Bingyin Wang ¹ , Hua Yan ¹

¹Department of Cardiology, Wuhan Asia Heart Hospital, School of Medicine, Wuhan University of Science and Technology, Wuhan, China
²Department of Laboratory Medicine, Wuhan Asia Heart Hospital, School of Medicine, Wuhan University of Science and Technology, Wuhan, China
³Department of Radiology, Wuhan Asia Heart Hospital, School of Medicine, Wuhan University of Science and Technology, Wuhan, China

Anatol J Cardiol 2026; 30(4): E-13-E-15 PubMed ID: 41636065 PMCID: PMC13071568 DOI: 10.14744/AnatolJCardiol.2025.5695

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CONTENT

A 19-year-old male presented to the hospital with chest pain and recurrent syncope. Electrocardiogram and Holter monitoring demonstrated right bundle branch block, left anterior fascicular block, intermittent ventricular pre-excitation, and left ventricular hypertrophy (Figure 1A and B). Echocardiography revealed uniform hypertrophy of the interventricular septum and left ventricle. No significant left ventricular outflow tract obstruction or systolic anterior motion of the mitral valve was observed at rest (Figure 1C and D; Videos 1 and 2). Cardiac magnetic resonance imaging demonstrated biventricular hypertrophy, with evidence of myocardial edema, injury, and fibrosis in hypertrophied regions (Figure 1E-H; Video 3). Based on these initial findings, a preliminary diagnosis of hypertrophic cardiomyopathy was made. Clinical whole-exome sequencing (WES) identified a heterozygous missense rare variant in the PRKAG2 gene (chr7:151576412; c.905G>A; p.Arg302Gln) (Figure 2A and B). The patient was definitively diagnosed with PRKAG2 cardiac syndrome.

PRKAG2 cardiac syndrome is a rare autosomal dominant genetic disorder caused by variants in the PRKAG2 gene, which encodes the γ2 regulatory subunit of 5’-adenosine monophosphate-activated protein kinase.¹ Hallmark features include ventricular preexcitation, supraventricular arrhythmias, conduction system disease, and cardiac hypertrophy.² PRKAG2 cardiac syndrome is frequently misdiagnosed as hypertrophic cardiomyopathy; thus, genetic testing is warranted in patients clinically diagnosed with hypertrophic cardiomyopathy. This case emphasizes that clinicians should consider PRKAG2 cardiac syndrome in adolescents presenting with myocardial hypertrophy, ventricular pre-excitation, and conduction system disease.

Footnotes

Informed Consent: Written informed consent was obtained from the patient for the publication of this case report and accompanying videos.

Declaration of Interests: The authors have no conflicts of interest to declare.

Video 1: Echocardiography revealed uniform hypertrophy of the interventricular septum and left ventricle.

Video 2: No significant left ventricular outflow tract obstruction or systolic anterior motion of the mitral valve was observed at rest.

Video 3: The short-axis cine images of the entire heart demonstrate uniform hypertrophy of the interventricular septum and left ventricular myocardium. The hypertrophied segments exhibit reduced wall motion amplitude and decreased systolic wall thickening rate.

References

Porto AG, Brun F, Severini GM. Clinical spectrum of syndrome. Circ Arrhythm Electrophysiol. 2016;9(1):e003121-.
Cheng WP, Song XW, Zhang BL. Research progress of cardiac syndrome. Zhonghua Xin Xue Guan Bing Za Zhi. 2024;52(8):966-972.

Guo Y, Yi D, Liu D, Fan Q, Ma1 Z, Wang L, Chen H, Wang B, Yan H. Adolescent with Unexplained Cardiac Hypertrophy, Ventricular Pre-Excitation, Conduction System Disease: PRKAG2 Cardiac Syndrome as a Rare Mimicker of Hypertrophic Cardiomyopathy. Anatol J Cardiol. 2026 ;30(4):E-13-E-15. doi: 10.14744/AnatolJCardiol.2025.5695.

Guo Y, Yi D, Liu D, et al. Adolescent with Unexplained Cardiac Hypertrophy, Ventricular Pre-Excitation, Conduction System Disease: PRKAG2 Cardiac Syndrome as a Rare Mimicker of Hypertrophic Cardiomyopathy. Anatol J Cardiol. 2026;30(4):E-13-E-15. doi: 10.14744/AnatolJCardiol.2025.5695

Guo, Y., Yi, D., Liu, D., Fan, Q., Ma1, Z., Wang, L., Chen, H., Wang, B., & Yan, H. (2026). Adolescent with Unexplained Cardiac Hypertrophy, Ventricular Pre-Excitation, Conduction System Disease: PRKAG2 Cardiac Syndrome as a Rare Mimicker of Hypertrophic Cardiomyopathy. The Anatolian Journal of Cardiology, 30(4), E-13-E-15. https://doi.org/10.14744/AnatolJCardiol.2025.5695

Guo, Y., et al. "Adolescent with Unexplained Cardiac Hypertrophy, Ventricular Pre-Excitation, Conduction System Disease: PRKAG2 Cardiac Syndrome as a Rare Mimicker of Hypertrophic Cardiomyopathy." The Anatolian Journal of Cardiology, vol. 30, no. 4, 2026, pp. E-13-E-15. https://doi.org/10.14744/AnatolJCardiol.2025.5695.

Guo, Y., et al. 2026. "Adolescent with Unexplained Cardiac Hypertrophy, Ventricular Pre-Excitation, Conduction System Disease: PRKAG2 Cardiac Syndrome as a Rare Mimicker of Hypertrophic Cardiomyopathy." The Anatolian Journal of Cardiology 30, no. 4: E-13-E-15. https://doi.org/10.14744/AnatolJCardiol.2025.5695.

Journal Display Format:

Authors: Yafeng Guo, Dong Yi, Daoquan Liu, Qingkun Fan, Zhaokun Ma1, Li Wang, Hongxu Chen, Bingyin Wang, Hua Yan
Article Title: Adolescent with Unexplained Cardiac Hypertrophy, Ventricular Pre-Excitation, Conduction System Disease: PRKAG2 Cardiac Syndrome as a Rare Mimicker of Hypertrophic Cardiomyopathy
Journal Name: The Anatolian Journal of Cardiology
Year: 2026
Volume: 30
Issue: 4
Pages: E-13 - E-15
DOI: 10.14744/AnatolJCardiol.2025.5695

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