ABSTRACT
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.
ABSTRACT
Introducción: Cerca del 25% de eventos isquémicos cerebrales son secundarios a fibrilación auricular (FA) paroxística y los pacientes requieren anticoagulación oral permanente. Es necesario identificarlos para prevenir su aparición. El método de rutina utilizado es el Holter de 24 horas. Materiales y Métodos: En un período de 21 meses, 100 pacientes con diagnóstico presuntivo de un evento cerebrovascular isquémico agudo (ECV) o ataque isquémico transitorio (AIT), de origen embólico, fueron sometidos a monitoreo Holter de 96 horas, para detectar fibrilación auricular paroxística. Resultados: En 7% de ellos se encontró alguna forma de esta arritmia, así como en 7,8% de aquellos con diagnóstico de ECV o AIT confirmados y sin evidencia de fuente cardioembólica. Discusión: Concluimos que el método de Holter de 96 horas es mejor que el rutinario de 24 horas, pero para mejorar su sensibilidad, se requiere seleccionar a los pacientes con mayor probabilidad de presentar la arritmia.
Introduction: Close to 25% of cerebrovascular events are related to paroxistic atrial fibrillation (AF), that is why AF patients need to receive permanent oral anticoagulation. We need to identify them to prevent the events. The usual test employed has been the 24 hours Holter. Methods: In a period of 21.5 months, 100 patients with presumptive diagnosis of acute ischemic cerebrovascular event or transient ischemic attack of embolic origin, underwent 96 hours Holter monitoring to detect paroxysmal atrial fibrillation. Results: In nearly 7% of these patients this kind of arrhythmia was found, as well as, in 7.8% of those with confirmed stroke without evidence of cardioembolic source. Discusion: We conclude that the 96 hours Holter is better than the routinary 24-hour Holter, though, in order to incresae the sensitivity of this test, it is worthwhile to choose patientes with higher probability to present this arrhytmia.
