Prenatal ultrasound diagnosis of MYH7 non‐compaction cardiomyopathy

We report on two prenatal ultrasound diagnoses of left ventricular non‐compaction cardiomyopathy (LVNC) associated with mutation of the cardiac β‐myosin heavy chain gene (MYH7). LVNC is characterized by a trabecular meshwork and deep intertrabecular myocardial recesses communicating with the left ve...

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Bibliographic Details
Published in:Ultrasound in obstetrics & gynecology 2013-03, Vol.41 (3), p.336-339
Main Authors: Hoedemaekers, Y. M., Cohen‐Overbeek, T. E., Frohn‐Mulder, I. M. E., Dooijes, D., Majoor‐Krakauer, D. F.
Format: Article
Language:English
Subjects:
Cardiac Myosins - genetics
cardiomyopathy
Child, Preschool
Female
Fetal Diseases - diagnostic imaging
Genetic Predisposition to Disease
Heart
Heart attacks
Heart Ventricles - abnormalities
Heart Ventricles - diagnostic imaging
Heart Ventricles - surgery
Humans
Infant
Infant, Newborn
Isolated Noncompaction of the Ventricular Myocardium - diagnostic imaging
Isolated Noncompaction of the Ventricular Myocardium - genetics
Isolated Noncompaction of the Ventricular Myocardium - surgery
Male
Mutation
MYH7
Myosin Heavy Chains - genetics
non‐compaction
Pregnancy
prenatal
Prenatal Diagnosis
Treatment Outcome
Ultrasonography, Prenatal
Ventricular Myosins - genetics
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Summary:We report on two prenatal ultrasound diagnoses of left ventricular non‐compaction cardiomyopathy (LVNC) associated with mutation of the cardiac β‐myosin heavy chain gene (MYH7). LVNC is characterized by a trabecular meshwork and deep intertrabecular myocardial recesses communicating with the left ventricular cavity. Clinical features range from non‐penetrant disease in adult carriers to heart failure, arrhythmia and thromboembolism. Both cases showed cardiomegaly on prenatal ultrasound examinations, with features indicating non‐compaction of the myocardium apparent in the third trimester. Mutations in the MYH7 gene were identified postnatally in each case in both the proband and the father. One infant underwent surgical mitral valvuloplasty and a mechanical valve implant later; in the other, left ventricular function was unimpaired at birth. Cardiac function in both cases remained stable at last follow‐up. These cases highlight the importance of prenatal ultrasound diagnosis of LVNC and the need for cardiologic and molecular testing of first‐degree relatives who may be unknown carriers of an MYH7 mutation.
ISSN:0960-7692
1469-0705
DOI:10.1002/uog.12279