Leonel Slanovic
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Interpreting the actionable clinical role of rare variants associated with short QT syndrome Open
Genetic testing is recommended in the diagnosis of short QT syndrome. This rare inherited lethal entity is characterized by structural normal hearts with short QT intervals in the electrocardiogram. Few families diagnosed with this arrhyth…
A Novel Mutation in the ADAMTS10 Associated with Weil–Marchesani Syndrome with a Unique Presentation of Developed Membranes Causing Severe Stenosis of the Supra Pulmonic, Supramitral, and Subaortic Areas in the Heart Open
Weill–Marchesani syndrome (WMS) is a rare genetic inherited disorder with autosomal recessive and dominant modes of inheritance. WMS is characterized by the association of short stature, brachydactyly, joint stiffness, eye anomalies, inclu…
View article: The Amplatzer duct occluder (ADOII) and Piccolo devices for patent ductus arteriosus closure: a large single institution series
The Amplatzer duct occluder (ADOII) and Piccolo devices for patent ductus arteriosus closure: a large single institution series Open
Purpose Evaluate Piccolo and ADOII devices for transcatheter patent ductus arteriosus (PDA) closure. Piccolo has smaller retention discs reducing risk of flow disturbance but residual leak and embolization risk may increase. Methods Retros…
A Missense Variation in PHACTR2 Associates with Impaired Actin Dynamics, Dilated Cardiomyopathy, and Left Ventricular Non-Compaction in Humans Open
Dilated cardiomyopathy (DCM) with left ventricular non-compaction (LVNC) is a primary myocardial disease leading to contractile dysfunction, progressive heart failure, and excessive risk of sudden cardiac death. Using whole-exome sequencin…
Successful Ablation of a Wide Complex Tachycardia with Distinct Intra-Cardiac Electrograms Open
A 13-year-old boy was hospitalized after a syncopal episode that occurred during exercise. He suddenly felt chest tightness, sweating and palpitations, followed by a transient loss of conciseness. Upon emergency medical team arrival, he wa…
The Clinical Spectrum of Mutations in CAP2 Open
Background: Dilated cardiomyopathy leads to contractile dysfunction, progressive heart failure, and excessive risk of sudden cardiac death. We reported a homozygous damaging variation in CAP2 causing dilated cardiomyopathy and supraventric…