Diverse cardiac phenotypes among different carriers of the same MYH7 splicing variant allele (c.732+1G>A) from a family.

Abstract excerpt

BACKGROUND: Left ventricular non-compaction cardiomyopathy (LVNC) is a rare congenital heart defect. Gene defections have been found in patients with LVNC and their family members; and MYH7 is the most frequent gene associated with LVNC. METHODS: We performed a complete prenatal ultrasound and echocardiographic examination on a fetus with cardiac abnormality and a parent-child trio whole-exome sequencing to...

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