Case of Fetal Cardiomyopathy Diagnosis and Brugada Syndrome – Pages 28-33

Emma Bertucci1,*, Licia Lugli2, Cristina Guidi1, Vincenza Dipace1, Katia Rossi2, Malavasi Vincenzo Livio3, Facchinetti Fabio4

1Prenatal Medicine Unit, Obstetrics and Gynaecology Unit, Department of Medical and Surgical Sciences for Mother, Child and Adult, University of Modena and Reggio Emilia, Modena, Italy, 2 Neonatal Intensive Care, Department of Medical and Surgical Sciences for Mother, Child and Adult Modena and Reggio Emilia University, Italy, 3 Cardiology Division, Department of Biomedical, Metabolic and Neural Sciences, Modena and Reggio Emilia University, Italy, 4Obstetrics and Gynaecology Unit, Department of Medical and Surgical Sciences for Mother, Child and Adult, University of Modena and Reggio Emilia, Modena, Italy

DOI: https://doi.org/10.31907/2309-4400.2020.08.06

Abstract:

Background: Cardiomyopathies account for 8%-11% of the cardiovascular diagnoses detected in utero. Case presentation: We illustrate a case of fetal dilated cardiomyopathy (DCM) diagnosed in a woman arrived at our Emergency Room for reduced fetal movements at 35+3 weeks of gestation. The patient had an abnormal fetal echocardiography with evidence of enlarged fetal hearth with a cardiothoracic ratio over 95° p.le, a dilated left and right ventricle and a reduced wall contraction. The diagnosis was of DCM was done. A Cesarean section was performed at  36  weeks  of  gestation for pathological pattern of cardiotocography (CTG). The female newborn had normal post-natal adaptation. Heart ultrasound showed a severe biventricular DCM with poor kinesis and a Holter electrocardiogram (ECG) showed supraventricular isolated extra systoles. The newborn infant was treated with ACE inhibitor, beta blockers and diuretics with partial improvement and the DCM was confirmed by the referral center of Cardiology and cardio surgery. The panel of Next Generation Sequencing (NGS) for CM was performed. The sequence analysis identified the heterozygous c.554C>T variant in the SCN5A gene, which at protein level determines Ala185Val variant, that is described in the literature as associated with the Brugada Syndrome (BrS). This genomic variant was inherited by the mother.

Conclusion: This article illustrates that when we have a fetus with DCM associated to demonstration of a genetic background, the counselling to the couple cannot exclude the presence of BrS in the child and an unknown genetic mutation in parents.

Keywords: Brugada syndrome, cardiomyopathies, dilated cardiomyopathy, hypertrophic cardiomyopathy, heart disease, mutation gene SCN5A, fetal ultrasound, alteration ECG, next generation sequencing, cardiac channelophaties