Unraveling the genetic tapestry of pediatric sarcomeric cardiomyopathies and masquerading phenocopies in Jordan.

Pediatric cardiomyopathies are mostly attributed to variants in sarcomere-related genes. Unfortunately, the genetic architecture of pediatric cardiomyopathies has never been previously studied in Jordan. We sought to uncover the genetic landscape of 14 patients from nine families with several subtypes of pediatric cardiomyopathies in Jordan using Exome sequencing (ES).

variant with the novel phenotype of mixed‑type total anomalous pulmonary venous return in Holt‑Oram Syndrome and variable intrafamilial heart defects.

Variants in T‑box transcription factor 5 () can result in a wide phenotypic spectrum, specifically in the heart and the limbs. has been implicated in causing non‑syndromic cardiac defects and Holt‑Oram syndrome (HOS). The present study investigated the underlying molecular etiology of a family with heterogeneous heart defects.