Fetal endocardial fibroelastosis: ultrasonographic findings in two cases

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Fetal endocardial fibroelastosis: Ultrasonographic findings in two cases Article in Journal of ultrasound in medicine: official journal of the American Institute of Ultrasound in Medicine · February 1998 Source: PubMed

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Fetal Endocardial Fibroelastosis: Ultrasonographic Findings in Two Cases Fadi Tannouri, MD, Françoise Rypens, MD, Marie-Odile Peny, MD, Jean-Christophe Noël, MD, PhD, Catherine Donner, MD, PhD, Julien Struyven, MD, PhD, Freddy Avni, MD, PhD

EFE is a rare cardiac disorder with poor prognosis and uncertain cause.1,2 Primary and secondary forms have been described.3 Most authors consider that all EFE is secondary—a reactive process set off in the endocardium by stress on the myocardium.4 We report two cases representing the primary dilated form and the secondary contracted form. The dilated form was associated with intracavitary thrombus of the left ventricle. In both cases, an unusual presence of subendocardial calcifications was noted. The ultrasonographic findings are discussed.

ABBREVIATIONS EFE, Endocardial fibroelastosis

Received June 12, 1997, from the Departments of Radiology (F.T., F.R., J.S., F.A.), Pathology (M.-O.P., J-C.N), and Gynecology (C.D.), Hospital Erasme, Brussels, Belgium. Revised manuscript accepted for publication September 27, 1997. Address correspondence and reprint requests to Fadi Tannouri, MD, Department of Radiology, Hospital Erasme, 808 Route de Lennik, B-1070 Brussels, Belgium.

CASE REPORTS Case 1 A 28 year old gravida 1 para 0 woman underwent routine sonographic examination at 19 weeks’ menstrual age. Fetal echocardiography showed a dilated and hypotonic left ventricle, with diffuse hyperechogenic lining of the endocardial surface. The echogenicity was maximum on the interventricular septum (Fig. 1). Intestinal hyperechogenicity was also observed. A large thrombus was discovered in the left ventricular cavity (Fig. 1). The diagnosis of left ventricular endocardial thickening associated with fibroelastosis and complicated by intracavity thrombus was suggested. No other anomaly was found on ultrasonographic study. Chromosomal analysis through amniotic puncture revealed a normal male karyotype: 46,XY. The parents elected to terminate the pregnancy. A male fetus compatible with 19 weeks of pregnancy, with no dysmorphic features, was submitted for pathologic examination. The heart weighed 5.8 g. The left ventricular endocardium was thickened, and the entire cavity was filled by an organized thrombus. No associated aortic valve stenosis was found. Microscopic examination confirmed the diagnosis of EFE, showing diffuse fibroelastic thickening of the endocardium associated with macrocalcifications in the myocardium (Fig. 2). Other organs appeared normal.

Case 2 A 29 year old gravida 1 para 0 woman was seen at 26 weeks’ menstrual age for routine ultrasonographic exami-

 1998 by the American Institute of Ultrasound in Medicine • J Ultrasound Med 17:63–66, 1998 • 0278-4297/98/$3.50

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nation. Previous ultrasonography performed at 20 weeks of gestation was considered normal. The examination revealed left heart hypoplasia. The left ventricle was thickened, with a bright echogenic endocardium and a poor global function (Figs. 3, 4). Pulsed and color flow Doppler sonography revealed a pathologic left-to-right atrial shunt. Left heart hypoplasia associated with fibroelastosis was suspected. No associated malformation was found. Amniotic puncture revealed a normal female karyotype: 46,XX. The parents decided to terminate the pregnancy. The female fetus, compatible with 26 weeks’ menstrual age, with no dysmorphic features, was submitted for pathologic examination. At autopsy, the heart weighed 7 g (normal weight for menstrual age, 6.3 ± 1.8 g). The left ventricular endocardium was markedly thickened. The aortic valve was slightly stenotic. Diffuse endocardial thickening with layering of collagen and elastic fibers was observed, confirming the diagnosis of EFE. Microcalcifications in the myocardium were also detected. No viral particle was found. No other abnormality was found.

DISCUSSION EFE is a rare cardiac disorder that mainly affects the left ventricle and is characterized by proliferation of both elastic and collagenous fibers within the endocardium. EFE is classified according to the left ventricle size, which can be either dilated (the most common form) or contracted.3 Classically, primary dilated or contracted forms and secondary dilated or hypoplastic forms are described. In the primary or idiopathic form, an aortic valve stenosis is the most Figure 1 Case 1: Axial ultrasonographic scan of the fetal chest at 19 weeks’ menstrual age (four-chamber view) shows hyperechogenicity of the interventricular septum (arrows) and an intraventricular hypoechoic mass (arrowheads) corresponding to an intraventricular thrombus. L, Left ventricle; R, right ventricle.

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common associated lesion.5 The secondary form is associated with viral infections (myocarditis due to coxsackievirus or parvovirus is still the source for much debate), genetic disorders with autosomal recessive transmission, X-linked mitochondrial cardiomyopathy, and metabolic disorders.4,6–8 The prognosis for a fetus with EFE is poor: This disease is often associated with myocardial and valve abnormalities, particularly frequent in the hypoplastic form. EFE may be responsible for intrauterine congestive heart failure and hydrops.7,9 Furthermore, around 80% of patients with EFE are seen with congestive heart failure within the first year of life.2 The ultrasonographic criteria for the antenatal diagnosis of EFE include a dilated left venticle with poor contractility and a hyperechogenic bright thickening of the endocardial surface.10 This striking hyperechogenicity is thought to be related to the thickening of the endocardium. The differential diagnosis of EFE includes a few other causes of intracardiac echogenic foci. An isolated left-side echogenic focus has been reported in 3.5% of fetuses between 16 and 21 weeks’ gestation and is generally considered to be a normal variant.11

Figure 2 Case 1: Histologic examination of the fetal heart lesion (20×) shows thickening of the endocardium (E), with subendocardial calcifications (arrows). M, Myocardium.

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Such echogenic foci are due to mineralization in the papillary muscle or the chordae tendineae or both.11,12 Yet, further search for associated abnormalities is requested, since such foci, especially when the right ventricle is also involved, have likewise been reported in an increasing number of patients with trisomy 21 and 13 (usually associated with other morphologic abnormalities).11 In patients with diffuse echogenic foci, even highly suggestive of EFE, a complete anatomic workup is mandatory, as chromosomal abnormalities have also been reported. Our two cases illustrate both forms of EFE. The first case is an example of the primary dilated form, but it displayed several unusual features. It was detected earlier than other reported cases (19 weeks), and no aortic valve stenosis, the most frequently associated lesion, was found. Furthermore, the presence of an intracavitary thrombus rarely has been observed. The only case previously mentioned in the literature associated intraventricular thrombus with aortic valve stenosis and aortic hypoplasia.13 The differential diagnosis of such a fetal intracardial mass includes rhabdomyoma, an intramyocardial and hyperechoic tumor that may be associated with tuberous sclerosis,14 or teratoma that is usually located inside the pericardium and is heterogeneous.15 Lipoma, mesothelioma, and fibroma are exceptional.15 Our second case is an example of classic hypoplastic left heart syndrome associated with EFE.16 In this

case, ultrasonographic examination at 20 weeks’ menstrual age was considered normal. This could favor the hypothesis of EFE as an evolving lesion. Changes of ultrasonographic appearance of a cardiac malformation during pregnancy have already been observed by various authors.17 In two cases of obstructive left heart disease, anatomy of the defects changed unfavorably during fetal life: A minor aortic coarctation became associated with severe hypoplasia of the aortic arch, and a case of aortic valve stenosis was complicated with hypoplastic left heart syndrome.17 Furthermore, both forms (dilated and contracted) of EFE were observed successively in a single fetus during its development.3 The evolving aspect could explain why most cases of EFE are diagnosed at the end of the second and during the third trimester of gestation. Even though the cause is not always found, EFE is probably a nonspecific endocardial reaction to various myocardial stress, as suggested by the presence of intestinal hyperechogenicities in one of our cases and subendocardial calcifications in both cases. Indeed, intestinal hyperechogenicities may be the result of various fetal insults such as infections, hypoxia, vascular diseases, and chromosomal anomalies.18 Furthermore, calcifications are described in various organs as the result of insults.12 Such calcifications as revealed by pathologic examination in our two cases surely have contributed to the hyperechogenicities observed on the ventricles.

Figure 3 Case 2: Axial ultrasonographic scan of the fetal chest at 26 weeks’ menstrual age (four-chamber view) shows a small left ventricle, with a hyperechogenic endocardium (arrows). RA, Right auricle; RV, right ventricle; LA, left auricle.

Figure 4 Case 2: Frontal ultrasonographic scan of the fetal chest at 26 weeks’ menstrual age shows the left ventricle hypolasia, with a hyperechogenic endocardium (arrows). L, liver; RV, right ventricle.

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CONCLUSION The cause of EFE is still uncertain. It probably results from a nonspecific endocardial reaction to a myocardial stress. Echocardiographic diagnosis of EFE is difficult but feasible. The hyperechogenicity is due to the thickening of the endocardium and the presence of calcifications. Further research is needed to understand its cause. REFERENCES 1.

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Hilton DA, Variend S, Pringle JH: Demonstration of coxsackie virus RNA in formalin-fixed tissue sections from childhood myocarditis cases by in situ hybridization and the polymerase chain reaction. J Pathol 170:45, 1993 Newbould MJ, Armstrong GR, Barson AJ: Endocardial fibroelastosis in infants with hydrops fetalis. J Clin Pathol 44:576, 1991

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10. Veille J-C, Sivakoff M: Fetal echocardiographic signs of congenital endocardial fibroelastosis. Obstet Gynecol 72:219, 1988 11. Brown DL, Roberts DJ, Miller WA: Left ventricular echogenic focus in the fetal heart: Pathologic correlation. J Ultrasound Med 13:613, 1994 12. Bronshtein M, Jakobi P, Ofir C: Multiple fetal intracardiac echogenic foci: Not always a benign sonographic finding. Prenat Diagn 16:131, 1996 13. Revel A, Ariel I, Rein AJJT, et al: Fetal endocardial fibroelastosis. J Ultrasound Med 22:355, 1994 14. Coates TL, McGahan JP: Fetal cardiac rhabdomyomas presenting as diffuse myocardial thickening. J Ultrasound Med 13:813, 1994 15. Dennis MA, Appareti K, Manco-Johnson ML, et al: The echocardiographic diagnosis of multiple fetal cardiac tumors. J Ultrasound Med 4:327, 1985 16. Hata T, Hata K, Makihara K, et al: Hypoplastic left heart syndrome: Color Doppler flow mapping. Fetus 1:7467, 1991 17. Marasini M, De Caro E, Pongigliome G, et al: Left heart obstructive disease with ventricular hypoplasia: Changes in the echocardiographic appearance during pregnancy. J Clin Ultrasound 21:65, 1993 18. Rypens F, Avni EF, Abebsera M, et al: Areas of increased echogenicity in the fetal abdomen: Diagnosis and significance. RadioGraphics 15:1329, 1995