Assuntos
Alelos , Substituição de Aminoácidos , Síndrome de Coffin-Lowry/diagnóstico , Síndrome de Coffin-Lowry/genética , Mutação de Sentido Incorreto , Fenótipo , Proteínas Quinases S6 Ribossômicas 90-kDa/genética , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/genética , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , LinhagemRESUMO
Ventricular tachycardia (VT) is a serious form of arrhythmia that can be life-threatening; that's why diagnosis and treatment are very important in order to avoid serious complications. We are reporting this case of VT which is a rare entity, especially, in healthy infants. This infant, without cardiac pathology known from birth, presented with poor food intake and grunting with hepatomegaly on clinical examination, and a heartbeat at 200/ min. The electrocardiogram (ECG) showed wide QRS complex tachycardia, and the echocardiogram showed a dilated and hypokinetic cardiomyopathy. The clinical signs and chest X-ray changes were consistent with mild cardiac failure. This presentation makes the diagnosis challenging, therefore, it is important to take a good history of the case with a complete clinical exam to achieve the correct diagnosis, and to avoid potential complications. VT of an infant may be benign but should not be diagnosed as such before eliminating serious causes.
