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Familial Atrial Enlargement, Conduction Disorder and Symmetric Cardiac Hypertrophy Are Early Signs of PRKAG2 R302Q

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Summary

PRKAG2 cardiac syndrome (PS) is a rare inherited disease due to PRKAG2 gene mutation and characterized by Wolff-Parkinson-White syndrome (WPWs), conduction system lesions and myocardial hypertrophy. It can also lead to serious consequences, such as sudden death. But the genetic and clinical heterogeneity makes the early diagnosis of PS difficult. Here we studied a family with familial hypertrophic cardiomyopathy and other diverse manifestations. Gene analysis identified a missense mutation (Arg302Gln) in the five affected subjects of the family. The electrocardiograph performance of the five was composed of sinus bradycardia (SB), WPWs, right bundle branch block (RBBB), atrioventricular block (AVB), left bundle branch block (LBBB), supraventricular tachycardia (SVT) and atrial premature beat (APB). Among them, the youngest one began to show paroxysmal palpitation at the age of nine and was confirmed to have WPWs at 17 years old; two members progressed over time to serious conduction damage, and the proband received a pacemaker at the age of 27 due to AVB. Besides, according to cardiac magnetic resonance and echocardiography, the youngest one showed symmetric hypertrophy; three older members showed asymmetric myocardial hypertrophy characterized with a diffuse pattern of middle-anterior-lateral-inferior wall hypertrophy and especially interventricular septal hypertrophy; all five affected patients showed atrial enlargement regardless of myocardial hypertrophy at an earlier stage. In conclusion, the conduction system disorder, familial atrial enlargement and symmetric cardiac hypertrophy may occur in the early stage of PRKAG2 R302Q mutation.

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Author notes

  1. Both authors contributed equally to this study.

Authors and Affiliations

  1. Department of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China

    Jing Hu, Kun Huang, Yan Wang, Shuai Lu, Hnkeshsing Baboo Gowreesunkur, Ya Wang, Di Wu, Henry Anselmo Mayala & Zhao-hui Wang

  2. First Clinical School, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China

    Ben Tang

  3. Department of Radiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China

    Jing Wang

  4. Key Laboratory of Molecular Imaging of Hubei Province, Wuhan, 430022, China

    Jing Wang

Authors
  1. Jing Hu
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  2. Ben Tang
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  3. Jing Wang
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  4. Kun Huang
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  5. Yan Wang
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  7. Hnkeshsing Baboo Gowreesunkur
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  8. Ya Wang
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  9. Di Wu
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  10. Henry Anselmo Mayala
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  11. Zhao-hui Wang
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Correspondence to Zhao-hui Wang.

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Hu, J., Tang, B., Wang, J. et al. Familial Atrial Enlargement, Conduction Disorder and Symmetric Cardiac Hypertrophy Are Early Signs of PRKAG2 R302Q. CURR MED SCI 40, 486–492 (2020). https://doi.org/10.1007/s11596-020-2207-z

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  • DOI: https://doi.org/10.1007/s11596-020-2207-z

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