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Left Ventricular Non-compaction: Is It Genetic?
Teck Wah Ting1,2, Saumya Shekhar Jamuar3,4, Maggie Siewyan Brett5
1Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore.
Left ventricular non-compaction (LVNC) in children often has genetic causes. This study proposes a diagnostic algorithm to identify genetic syndromes linked to LVNC, improving patient care.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Left ventricular non-compaction (LVNC) affects 0.14% of children, with diverse genetic etiologies.
- Identifying the genetic cause of LVNC is crucial for accurate diagnosis and management.
Observation:
- Two pediatric patients with LVNC were diagnosed with 1p36 microdeletion syndrome.
- Clinical features included hypotonia, developmental delay, seizures, and facial dysmorphism.
Findings:
- A comprehensive literature review identified various genetic causes of LVNC.
- A diagnostic algorithm is proposed for evaluating genetic syndromes in pediatric LVNC cases.
Implications:
- The proposed algorithm aids in systematic genetic evaluation of LVNC.
- Early genetic diagnosis can improve clinical care and outcomes for affected children.
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