The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome.

Objectives: This study sought to evaluate the phenotypic and functional expression of an apparent hotspot mutation associated with short QT syndrome (SQTS).

Background: SQTS is a rare channelopathy associated with a high risk of life-threatening arrhythmias and sudden cardiac death (SCD).

Methods: Probands diagnosed with SQTS and their family members were evaluated clinically and genetically.

Atovaquone and azithromycin treatment for babesiosis in an infant.

An 8-month-old infant with cyanotic heart disease and transfusion-associated Babesia microti infection is reported here. At initial presentation, she was ill appearing, febrile and cyanotic. Laboratory tests revealed severe anemia, thrombocytopenia and an increase in hepatic enzymes.

HACEK endocarditis in infants and children: two cases and a literature review.

We report 2 cases of Haemophilus parainfluenzae endocarditis and review 34 cases of HACEK endocarditis from the literature. HACEK organisms are the most common cause of Gram-negative endocarditis in children. They have a propensity to form friable vegetations (especially H.