Postnatal Outcome of Fetal Left Ventricular Hypertrabeculation/Noncompaction.

Area of Science:

• Cardiology
• Genetics
• Pediatrics

Background:

• Left ventricular hypertrabeculation/noncompaction (LVHT) is a cardiac abnormality with unknown causes.
• Prenatal diagnosis is possible via fetal echocardiography.
• Previous reviews identified 46 live cases postnatally from 106 published cases.

Purpose of the Study:

• To collect follow-up data on prenatally diagnosed LVHT cases.
• To assess the long-term morbidity and mortality in these patients.
• To identify associated genetic and extracardiac abnormalities.

Main Methods:

• Contacted authors of 46 prenatally diagnosed LVHT cases.
• Gathered information on vital status, cardiac, and extracardiac morbidity for 18 cases.
• Analyzed data for differences between cases with and without follow-up.

Main Results:

• Three of 18 cases died from heart failure, osteosarcoma, and enterocolitis.
• Six of seven examined patients had mutations or chromosomal abnormalities.
• Nine patients had extracardiac abnormalities; four required cardiac procedures.

Conclusions:

• Prenatally diagnosed LVHT cases show continuing morbidity and mortality.
• LVHT is frequently associated with genetic abnormalities.
• Further research on survival and genetic causes is warranted.