Key result
Novel MYH7 variant identified as cause of fetal hypertrophic cardiomyopathy at 23 weeks of gestation.
Case Report (n=1)
May enable earlier prenatal counseling for suspected fetal HCM; leaves open validation of this MYH7 variant in larger cohorts.
Cardiomyopathies (CMs) are myocardial disorders that lead to compromised cardiac function of variable severity. These diseases are very rare in human fetuses. Many CMs are idiopathic and only 33%–43% have identifiable genetic, familial, infectious or metabolic causes.[1 2][1] About 76% of the
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Soares et al. (2021) conducted a case report in Fetal hypertrophic cardiomyopathy (n=1). MYH7 gene variant c.559A>G (p.Asn187Asp) was evaluated. Prenatal ultrasound and genetic testing identified a novel, likely pathogenic MYH7 gene variant (c.559A>G) causing fetal hypertrophic cardiomyopathy at 23 weeks of gestation.
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