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Isolated multiple bilateral echogenic papillary muscles: A unique sonographic feature of trisomy 13
Joseph R Wax1, Michael G Pinette, Jacquelyn Blackstone
1Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Maine Medical Center, Portland, Maine, USA. waxj@mmc.org
Insights
Echogenic papillary muscles in fetal hearts can be an early indicator of trisomy 13 (a genetic disorder). This finding may be the sole sonographic sign, highlighting its importance in prenatal diagnosis.
Area of Science:
- Fetal Medicine
- Prenatal Diagnosis
- Medical Genetics
Background:
- Echogenic papillary muscles are observed in 30% of fetuses diagnosed with trisomy 13.
- Previous cases of trisomy 13 with echogenic papillary muscles also presented other abnormal sonographic findings.
Observation:
- A 21.7-week gestational age fetus exhibited three echogenic papillary muscles within each cardiac ventricle during ultrasound.
- Karyotype analysis of amniotic fluid cells confirmed the fetus had trisomy 13 (47,XX,+13).
Findings:
- Multiple bilateral papillary muscles can be the singular sonographic marker for fetal trisomy 13.
- This case highlights the potential diagnostic significance of isolated echogenic papillary muscles.
Implications:
- Recognizing isolated echogenic papillary muscles may improve the detection rate of fetal trisomy 13.
- This sonographic finding warrants further investigation and genetic counseling for expectant parents.
- Early identification of trisomy 13 facilitates timely intervention and management planning.
Background:
Echogenic papillary muscles are noted in 30% of fetuses with trisomy 13. All reported fetuses with trisomy 13 and echogenic papillary muscles have exhibited additional abnormal sonographic findings.
Case:
A 21.7-week fetus demonstrated three papillary echogenicities in each cardiac ventricle during ultrasound examination. Chromosomal analysis of amniocytes showed the karyotype 47,XX,+13.
Conclusion:
Multiple bilateral papillary muscles may provide the only sonographic sign of fetal trisomy 13.