A fetus with hypertrophic cardiomyopathy, restrictive, and single-ventricle physiology, and a beta-myosin heavy chain mutation.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 20394946.
- Also identified by DOI 10.1016/j.jpeds.2010.02.044 and PMC identifier 2886151.
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Abstract
Cardiomyopathy is a significant clinical problem associated with sudden death. A molecular taxonomy is emerging that is refining the clinical classification system. We describe a patient with a pathogenic familial beta-myosin heavy chain mutation who was prenatally diagnosed with left ventricular hypoplasia and restrictive diastolic physiology.
Medical subject headings
- Cardiomyopathy, Hypertrophic
- Fetus
- Mutation
- Myosin Heavy Chains
- Ultrasonography, Prenatal
- Ventricular Myosins