RESUMO
Catecholaminergic polymorphic ventricular tachycardia is one of the most lethal channelopathies, characterized by ventricular arrhythmias triggered by stress or physical activity. We present the case of an adolescent who consulted for recurrent syncope precipitated by exercise. In the diagnostic approach, catecholaminergic polymorphic ventricular tachycardia was reached, with a mutation in the cardiac ryanodine receptor gene, Heterozygous c.14311G> A (p.v4771I exon 100), antiarrhythmic drugs and implantable cardioverter-defibrillator were necessary with satisfactory evolution. Clinical suspicion, stress test and genetic tests are essential for a timely diagnosis and management of this pathology.
RESUMO
Pentalogy of Cantrell is a rare entity characterized by a combination of alterations, among which the following stand out: defects of the pericardium, heart, diaphragm, lower third of sternum and abdominal wall. On the other hand, congenital cardiac diverticulum is a rare malformation whose presentation is associated with Cantrell's pentalogy in some cases. We present the case of a child with Cantrell's pentalogy who, during follow-up, was diagnosed with left ventricular diverticulum, which required surgical management with a favorable outcome. Addressing these conditions requires the use of cardiovascular images that allow timely decision-making by the treating team.