Timothy Syndrome is a rare autosomal dominant multisystem genetic condition. The CACNA1C gene, codifier of the CaV1.2 calcium channel, is affected, resulting in the loss of voltage-dependent calcium channel inactivation. Relevant clinical characteristics:(1) corrected QT interval greater than 480ms; (2) syndactyly. Death often occurs during childhood, and results from ventricular tachyarrhythmias. This study presents the case of a female newborn who suffered a cardiorespiratory arrest, secondary to ventricular arrhythmia. A prolonged QT interval, combined with 2:1 AV block, was also identified, requiring a definitive cardiac pacemaker implant that, during inpatient care, developed pulmonary sepsis, followed by death.
Sarcoidosis is a multisystemic noncaseating granulomatous disease of unknown etiology. Cardiac sarcoidosis clinical presentation is diverse, and syncope is one of the possible primary events. Due to its variable natural history and initial presentation associated with lacking sensitive and specific diagnostic tests, it still represents a challenging diagnosis. This article presents the case of a 51-year-old female patient with intermittent syncope events associated with torsades de pointes and dilated cardiomyopathy compatible with sarcoidosis.
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