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

Current Medical Science
Jing HuZhao-Hui Wang

Abstract

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 hypertro...Continue Reading

References

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