Key result
Genomic screening identified a missense pathogenic Arg302Gln mutation in the PRKAG2 gene in two related Ecuadorian subjects with hypertrophic cardiomyopathy.
Why the study?
Does genomic screening identify causative mutations in Ecuadorian relatives with familial hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome?
Case Report (n=2)
No
Does genomic screening identify causative mutations in Ecuadorian relatives with familial hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome?
This case report demonstrates the clinical utility of genomic screening by identifying a novel PRKAG2 mutation in Latin American relatives with familial hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome.
Highlights potential utility of genomic screening in overlapping inherited cardiac conditions; leaves open validation in larger cohorts.
Introduction: Genomic screening is an informative and helpful tool for the clinical management of inherited conditions such as cardiac diseases. Cardiac-inherited diseases are a group of disorders affecting the heart, its system, function, and vasculature. Among the cardiac inherited abnormalities, one of the most common is Wolff-Parkinson-White syndrome. Similarly, hypertrophic cardiomyopathy is another common autosomal dominant inherited cardiac disease. Hypertrophic cardiomyopathy is associated with an increased incidence of Wolff-Parkinson-White syndrome; reports have suggested that it could be caused by a mutation in the protein-coding gene PRKAG2, which encodes a subunit of the AMP-activated protein kinase. Case presentation: A 37-year-old Ecuadorian male (Subject A) with familiar history of bradycardia, cardiac pacemaker implantation, and undiagnosed cardiac conditions began with episodes of tachycardia, dizziness, shortness of breath, and a feeling of fainting. He was diagnosed with hypertrophic myocardiopathy and Wolff Parkinson White preexcitation syndrome. Furthermore, his cousin's son, an 18-year-old Ecuadorian male (Subject B), started suffering from migraine and tachycardia at any time of the day. He was diagnosed with hypertrophic myocardiopathy; his electrocardiogram showed a systolic overload. Next-generation sequencing and ancestry analyses were performed. A c.905G>A p.(Arg302Gln) mutation in the gene PRKAG2 and a mainly European composition were identified in both subjects. Conclusion: Genetic testing is a valuable tool as it can provide important information regarding a disease, including its cause and consequences, not only for single individuals but to identify at-risk relatives. Furthermore, NGS results could guide the physician into targeted therapy. In the present case report, a missense pathogenic Arg302Gln mutation in the PRKAG2 gene has been identified in two related Ecuadorian Subjects diagnosed with hypertrophic myocardiopathy and Wolff-Parkinson-White. The variant has not been reported in Latin America; hence, this is the first report of the Arg302Gln mutation in the PRKAG2 gene in mestizo Ecuadorian subjects with mainly European ancestry components.
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Cadena-Ullauri et al. (2022) conducted a case report in Hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome (n=2). Genomic screening (Next-generation sequencing) was evaluated on Identification of pathogenic genetic variants. Genomic screening identified a missense pathogenic Arg302Gln mutation in the PRKAG2 gene in two related Ecuadorian subjects with hypertrophic cardiomyopathy.
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