Journal
JOURNAL OF CLINICAL MEDICINE
Volume 12, Issue 13, Pages -Publisher
MDPI
DOI: 10.3390/jcm12134366
Keywords
primary fetal cardiomyopathy; cardiomyopathies; cardiomegaly; fetal echocardiography; prenatal diagnosis
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This study retrospectively analyzed 21 cases of primary cardiomyopathy in fetuses over a 20-year period. The results showed that the average gestational age at diagnosis was 26.7 weeks, and 33.3% of the cases had associated anomalies. Genetic etiology was confirmed in 50.0% of the cases. The overall survival rate was 40%, with termination of pregnancy accounting for 20% and intrauterine mortality rate at 5%. Prenatal isolated right ventricular involvement was identified as a significant predictor of survival.
Objective: to assess the course and outcome of fetuses affected by primary cardiomyopathy (CM). Methods: Retrospective study of 21 cases with prenatal diagnosis of a primary CM in one tertiary center over a period of 20 years. Charts were reviewed for echocardiographic findings, pregnancy outcome, and postnatal course. The utility of prenatal evaluation was discussed. Results: The mean gestational age (GA) at diagnosis was 26.7 (& PLUSMN;5.1) weeks. A total of 33.3% (7/21) had associated anomalies. Genetic etiology was confirmed in 50.0% (10/20, with one case lost to follow up). The overall survival rate of the entire study population was 40% (8/20) including termination of pregnancy in 20% (4/20) and an intrauterine mortality rate of 5% (1/20). Of the initial survivors (n = 15), a neonatal and early infant mortality rate of 46.7% (7/15) was calculated. Prenatal isolated right ventricular involvement was the only identified significant parameter for survival (p = 0.035). Four phenotypical groups were identified: 42.9% (9/21) hypertrophic (HCM), 38.1% (8/21) dilated (DCM), 14.3% (3/21) isolated noncompaction (NCCM), and 4.8% (1/21) restrictive CM (RCM). Fetuses assigned to isolated NCCM revealed a 100% survival rate. Conclusion: Prenatal detection is feasible but needs to a introduce classification method for better consulting and management practices. A poor outcome is still observed in many cases, but an increase in examiners' awareness may influence optimal multispecialized care.
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