Publications by authors named "Carlos Alberto Guzman-Serrano"

Criss-Cross Heart is a congenital cardiac condition characterized by the anomalous twisting of the ventricles relative to the atria during embryonic development. The aim of this study is to assess the advantages and limitations of diagnostic imaging for the diagnosis and approach of patients with Criss-Cross Heart through a scoping review, associated to a case series. A retrospective study was conducted on four patients diagnosed with Criss-Cross Heart.

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A six-year-old girl with restrictive cardiomyopathy and hypertrabeculation, due to the early onset of her disease, whole exome sequencing was conducted, revealing the presence of a novel heterozygous missense variant in the FLNC gene. The same gene variant was also identified in her father, who, at an adult age, displayed normal imaging results and was symptom-free. This variant has not been reported in population databases or current medical literature and is classified as likely pathogenic.

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