Search results for "Phenocopy"
showing 3 items of 3 documents
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.
2012
International audience; Floating-Harbor syndrome (FHS) is characterized by characteristic facial dysmorphism, short stature with delayed bone age, and expressive language delay. To date, the gene(s) responsible for FHS is (are) unknown and the diagnosis is only made on the basis of the clinical phenotype. The majority of cases appeared to be sporadic but rare cases following autosomal dominant inheritance have been reported. We identified a 4.7 Mb de novo 12q15-q21.1 microdeletion in a patient with FHS and intellectual deficiency. Pangenomic 244K array-CGH performed in a series of 12 patients with FHS failed to identify overlapping deletions. We hypothesized that FHS is caused by haploinsuf…
Brugada phenocopy in diabetic ketoacidosis, the importance of the diagnostic approach
2020
Abstract Brugada phenocopies (BrP) are clinical entities that present with identical ECG patterns to those of true Brugada Syndrome (BrS) but are elicited by various other clinical circumstances. Our manuscript shows an interesting case of a type-1 Class A BrP in a young patient with diabetic ketoacidosis and hyperkalemia.
BRUGADA PATTERN IN HEROIN ADDICTION: SYNDROME OR PHENOCOPY?
2020
Brugada phenocopies (BrPs) are clinical entities that show an electrocardiogram (ECG) pattern similar to what is observed in Brugada syndrome (BrS). They are caused by different clinical conditions. We describe a case of BrP in a man that developed acute kidney failure secondary to rhabdomyolysis, after heroin addiction. His initial ECG showed Brugada type 1 pattern resolved after hemodialytic treatment. A provocative test with ajmaline, which resulted negative, was performed to confirm the diagnosis. BrPs can mimic a true BrS and a fast recognition of these clinical and electrocardiographic findings may avoid diagnostic mistakes thus preventing unnecessary or inaccurate treatmen