In this cohort of patients, TEE confirms the role of 'gold standard' exam for the detection of PFO; the non-invasive methods, and the TTE in particular, present a good diagnostic accuracy, but are inferior to the TEE because of the low negative predictive value and the non-optimal detection of small shunts. If the only purpose of TEE is the detection of significative interatrial shunt, TEE can be replaced by TTE. The R3DTE presents a good diagnostic accuracy, provides a better anatomical definition of the interatrial septum, and may have a role in this setting of patients, but does not add a lot to the TTE for the diagnosis.
Familial hypokalemic periodic paralysis is an autosomal dominant muscle disorder characterized by episodic attacks of muscle weakness, accompanied by a decrease in blood potassium levels. It is based on genetic mutations in the genes CACNA1S (most frequent, encoding the skeletal muscle calcium channel) and SCN4A (10% of cases, encoding the sodium channel). Few cases have been reported with cardiac dysrhythmia. We report a rare case of a patient with a novel SCN4A mutation who presented, on ECG, extreme bradycardia and syncopal sinus arrest that required a temporary pacemaker implant
Isolated supravalvular pulmonary stenosis is a rare finding, usually evidenced in the pediatric age. Here, we report a case of a 76-year-old patient with isolated, severely obstructive, pulmonary supravalvular stenosis. The peculiarity of the present case is the paucity of symptoms and lack of changes in right heart sections, despite of the importance of stenosis. The report confirms the utility of transthoracic two- and three-dimensional echocardiography and transesophageal echocardiography in the detection and quantification of this rare anomaly.
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