Fetal Echocardiography is Useful for Screening Fetuses with a Family History of Cardiomyopathy
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ORIGINAL ARTICLE
Fetal Echocardiography is Useful for Screening Fetuses with a Family History of Cardiomyopathy Nicholas B. Zaban1,2 · Robert K. Darragh1 · John J. Parent1,3 Received: 14 April 2020 / Accepted: 17 August 2020 © Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract We screened all fetal echocardiograms performed at our institution for the past 5 years for the indication of family history of cardiomyopathy. Twenty-six patients were identified who had fetal echocardiograms performed due to a family history of cardiomyopathy. Three out of 26 patients (11.5%) had findings of decreased ventricular function and dilation consistent with cardiomyopathy. All who had cardiomyopathy on fetal echocardiography had parents with genetic mutations (2 maternal, 1 paternal), including one mother who had a cardiac transplant at age 8 for dilated cardiomyopathy. All 3 affected infants had prenatal planning for high level care and were transferred to our facility immediately after birth for cardiology evaluation and management. 2 patients required inotropic support in the newborn period. One patient was transplanted at age 2 months. One patient required ECMO support for one week and initially recovered, but subsequently required mechanical support and listing for heart transplant. We recommend patients with a strong family history of cardiomyopathy in either parent, especially those with known genetic mutations associated with cardiomyopathy, have fetal echocardiograms performed. Keywords Fetal echocardiography · Cardiomyopathy · Screening · Non-compaction cardiomyopathy
Background Cardiomyopathy is highly heritable with familial forms accounting for 30–40% of cases [1, 2]. The incidence of cardiomyopathy in children less than one year of age in the USA is around 8 per 100,000 individuals [3]. Cardiomyopathy can present in the fetus and be detected by fetal echocardiography [4]. Fetal cardiomyopathy can cause low cardiac output and at advanced stages causes cardiomegaly, valvar regurgitation, venous congestion, fetal edema, effusions, and fetal demise. Often in cases of fetal cardiomyopathy causing low cardiac output, both ventricles are affected [5]. Several * John J. Parent [email protected] 1
Division of Pediatric Cardiology, Department of Pediatrics, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, IN, USA
2
Present Address: CentraCare Heart and Vascular Center, 1200 6th Ave N, St. Cloud, MN 56303, USA
3
Division of Pediatric Cardiology, Department of Pediatrics, Riley Hospital for Children, Indiana University School of Medicine, 705 Riley Hospital Drive, Suite RR 127, Indianapolis, IN 46254, USA
factors can limit the circulatory reserve of the fetus including limited heart rate and preload. Fetal myocardium is less compliant and generates less contractile force than post-natal myocardium [6]. Additionally there can be restrictive filling of the ventricles in diastole. Cardiomyopathy is the most common indication for cardiac transplant in newbor
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