Left Ventricular Non-compaction: Is It Genetic?
作者： Teck Wah Ting , Saumya Shekhar Jamuar , Maggie Siewyan Brett , Ee Shien Tan , Breana Wen Min Cham
DOI: 10.1007/S00246-015-1222-5
关键词:
摘要: Left ventricular non-compaction (LVNC) is reported to affect 0.14 % of the pediatric population. The etiology heterogeneous and includes a wide number genetic causes. As an illustration, we report two patients with LVNC who were diagnosed syndrome. We then review literature suggest diagnostic algorithm evaluate individuals LVNC. Case 1 15-month-old girl presented hypotonia, global developmental delay, congenital heart defect (including LVNC) facial dysmorphism. 2 7-month-old seizures, laryngomalacia performed chromosomal microarray for both our detected chromosome 1p36 microdeletion. reviewed other causes formulated algorithm, which assessment syndromic disorders, inborn error metabolism, copy variants non-syndromic monogenic disorder associated relatively newly recognized entity, heterogeneity in underlying etiology. For systematic approach evaluating cause improve clinical care these patients, evaluation proposed.
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