Arq. Bras. Cardiol. 2022; 119(5): 689-690
PRKAG2 Cardiomyopathy
This Short Editorial is referred by the Research article "Atrial Flutter in PRKAG2 Syndrome: Clinical and Electrophysiological Characteristics".
Magalhães et al. assessed atrial flutter’s clinical, electrocardiographic, and electrophysiologic characteristics in patients with and without PRKAG2 cardiomyopathy. Although genetic sequencing was not carried out in their control patients, the absence of clinical features of this pathology is acceptable evidence of a non-carrier state. In humans, mutations in the PRKAG2 gene result in a highly penetrant phenotype. It is dominated by the cardiac features of left ventricular hypertrophy, ventricular pre-excitation, atrial tachyarrhythmia, cardiac conduction disease, and myocardial glycogen storage. It would be very unlikely to find a patient with a positive genotype for PRKAG2 in the setting of a negative phenotype.
Our group pioneered the study of PRKAG2 cardiomyopathy in Brazil. The first patient was assessed in 1994, a 36-years old male, with mild hypertension, with recurrent episodes of common atrial flutter. The electrocardiogram showed ventricular pre-excitation, enlarged P waves, a significant increase in the QRS voltage, and sinus bradycardia. Of 8 brothers, six had very similar electrocardiographic findings. Their mother had had a pacemaker implanted at the age of 42. The echocardiogram showed a non-obstructive form of asymmetric left ventricular hypertrophy and mild left atrial enlargement. There were sufficient elements to allow a presumptive diagnosis of a phenocopy of hypertrophic cardiomyopathy! In 1994, however, we were not able to make the diagnosis. The mutations of the PRKAG2 gene had yet to be reported in 1994, but it would be 7 years later. Then, in 2004, we undertook genetic sequencing of the patients. We presented our experience during the NASPE Congress of 2005. Our research received the first prize in clinical arrhythmia during the Brazilian Congress of Cardiac Arrhythmias of 2004.
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