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Background/Purpose: Deletions in the 1p36 gene represent one of the most common deletion syndromes. Features include developmental delay, seizures, hearing and vision problems, feeding difficulties and anomalies affecting multiple organ… Click to show full abstract
Background/Purpose: Deletions in the 1p36 gene represent one of the most common deletion syndromes. Features include developmental delay, seizures, hearing and vision problems, feeding difficulties and anomalies affecting multiple organ systems. Cardiac findings include congenital heart defects and cardiomyopathy. Specifically, left ventricular noncompaction cardiomyopathy has been described in some patients with 1p36 gene deletion. Noncompaction cardiomyopathy is characterized by excessive, prominent trabeculations in the left ventricle and leads to arrhythmia, left ventricular dysfunction and emboli. We sought to outline cardiac findings in patients with diagnosed 1p36 gene deletion. …
Journal Title: Pediatrics
Year Published: 2021
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