DOI: 10.1002/pd.4450
RESEARCH LETTER
Sonographic diagnosis of ectopia cordis before 9 weeks of gestation Waldo Sepulveda1*, Elena Andreeva2 and Luiz E. Machado3 1
Maternal-Fetal Diagnostic Center, Las Condes, Santiago, Chile Medical-Genetics Department, Moscow Regions Research Institute of Obstetrics and Gynecology, Moscow, Russia 3 Intro – Centro de Treinamento em Diagnostico por Imagem, Salvador, Bahia, Brazil *Correspondence to: Waldo Sepulveda. E-mail: [email protected] 2
Funding sources: WS was supported by an unrestricted research grant from the Sociedad Profesional de Medicina Fetal ‘Fetalmed’ Limitada, Chile. Conflicts of interest: None declared
Ectopia cordis is an exceedingly rare congenital anomaly characterized by partial or complete displacement of the heart outside the thoracic cavity.1 This condition occurs with a prevalence of 5 to 8 in 1 000 000 deliveries and is classified depending on its location into five types, that is, cervical, cervico-thoracic, thoracic, thoraco-abdominal, and abdominal.1 The prenatal sonographic diagnosis of ectopia cordis is relatively easy with two-dimensional real-time ultrasound and relies on the demonstration of a pulsating heart outside the fetal chest.2 Although the prenatal diagnosis in the first trimester has been documented by several authors,3,4 the diagnosis before 9 weeks of gestation has not been reported, probably because of the small size of the embryo and the high mortality rate in a significant number of early embryos affected with this condition. We report three cases of ectopia cordis detected incidentally during routine transvaginal sonography before 9 menstrual weeks. Table 1 displays the most relevant clinical and sonographic features in our cases. Two patients were older than 35 years, one was primigravida, and one pregnancy was achieved by in vitro fertilization. The indication for the scan was routine confirmation of dates and viability in an otherwise normal pregnancy in two cases and threatening abortion in another. The gestational age at examination ranged from 55 to 62
menstrual days. The crown-rump length (CRL) was consistent with dates in two cases and smaller than expected for gestational age in one embryo that was also bradycardic at the time of the scan. Extracorporeal location of heart was clearly documented by transvaginal real-time sonography in all three cases (Figure 1; Videos 1 and 2). The patients were informed about the findings and the importance of a sonographic follow-up for confirmation in view that information regarding the prenatal sonographic features of ectopia cordis at this early gestational age had not been described in the literature. A follow-up scan 1 week later demonstrated embryonic demise in all cases. This series documents three cases of ectopia cordis detected before 9 weeks of gestation. According to a recent review of the literature describing 17 cases of ectopia cordis diagnosed in the first trimester,3 the earliest diagnosis was made at 9 weeks in an embryo with a CRL of 28 mm.5 Our three cases were detected even earlier, in embryos with CRLs ranging from 10 to 21 mm. Although pathological proof of ectopia cordis was available in only one of our cases, transvaginal real-time sonography readily demonstrated the abnormal extracorporeal position of the heart in all of them.
Table 1 Early sonographic diagnosis of ectopia cordis: clinical cases MA (years)
P
GA (weeks)
CRL (mm)
1
36
3
8 + 6/7
10
83
2
41
0
7 + 6/7
13
3
23
1
8 + 5/7
21
Case
HR (bpm)
Sonographic findings
Outcome
CRL smaller than dates. Abnormally curved embryonic pole. Extracorporeal pulsating mass with bradycardia.
Demise at F/U scan
132
Extracorporeal pulsating mass
Demise at F/U scan
IVF pregnancy
170
Extracorporeal pulsating mass
Demise at F/U scan
Threatening abortion
Remarks
MA, maternal age; P, parity; GA, gestational age; CRL, crown-rump length; HR, heart rate; F/U, follow-up; IVF, in vitro fertilization. Prenatal Diagnosis 2014, 34, 1231–1232
© 2014 John Wiley & Sons, Ltd.
W. Sepulveda et al.
1232
Figure 1 Transvaginal scans show ectopic location of the heart (arrow). (A) Case 1 (10 mm embryo), (B) case 2 (13 mm embryo), and (C) case 3 (21 mm embryo)
Our report suggests that ectopia cordis could be one of the few congenital defects that can be diagnosed in very early pregnancy. In this series, it was lethal, suggesting that ectopia cordis could be a more frequent condition than previously reported. The suspicion of an extracorporeal pulsating mass in early pregnancy should be therefore considered a condition associated with a high risk for early intrauterine demise, and a follow-up sonographic examination should be mandatory. We confirm that the diagnosis of ectopia cordis is possible even in early first-trimester embryos, so close attention not only to the cardiac motion but also to the location of the fetal heart should be undertaken in pregnancies before 9 weeks.
WHAT’S ALREADY KNOWN ABOUT THIS TOPIC? • Ectopia cordis is a rare, almost invariably lethal, condition that can be readily diagnosed by prenatal sonography. • The prenatal diagnosis of ectopia cordis before 9 weeks has not been reported.
WHAT DOES THIS STUDY ADD? • This series of three cases documents the earliest diagnosis of ectopia cordis reported to date. • Ectopia cordis seems to be associated with a high lethality rate in early embryos, suggesting that this condition could be more frequent than previously reported.
REFERENCES 1. Amato J, Douglas W, Desai U, Burke S. Ectopia cordis. Chest Surg Clin N Am 2000;10:297–316. 2. Bianchi DW, Crombleholme TM, D’Alton ME, Malone FD (eds.). Ectopia cordis. In Fetology: Diagnosis and Management of the Fetal Patient. McGraw-Hill: New York, NY; 2010:411–5. 3. Hannoun A, Usta IM, Sawaya F, Nassar AH. First trimester sonographic diagnosis of ectopia cordis: a case report and review of the literature. J Maternal Fetal Neonat Med 2011;24:867–9. 4. Sepulveda W, Wong AE, Simonetti L, et al. Ectopia cordis in a first-trimester sonographic screening program for aneuploidy. J Ultrasound Med 2013;32:865–71.
Prenatal Diagnosis 2014, 34, 1231–1232
5. Tongsong T, Wanapirak C, Sirivatanapa P, Wongtrangan S. Prenatal sonographic diagnosis of ectopia cordis. J Clin Ultrasound 1999;27:440–5.
SUPPORTING INFORMATION Additional supporting information may be found in the online version of this article at the publisher’s web site.
© 2014 John Wiley & Sons, Ltd.
RESEARCH LETTER
Sonographic diagnosis of ectopia cordis before 9 weeks of gestation Waldo Sepulveda1*, Elena Andreeva2 and Luiz E. Machado3 1
Maternal-Fetal Diagnostic Center, Las Condes, Santiago, Chile Medical-Genetics Department, Moscow Regions Research Institute of Obstetrics and Gynecology, Moscow, Russia 3 Intro – Centro de Treinamento em Diagnostico por Imagem, Salvador, Bahia, Brazil *Correspondence to: Waldo Sepulveda. E-mail: [email protected] 2
Funding sources: WS was supported by an unrestricted research grant from the Sociedad Profesional de Medicina Fetal ‘Fetalmed’ Limitada, Chile. Conflicts of interest: None declared
Ectopia cordis is an exceedingly rare congenital anomaly characterized by partial or complete displacement of the heart outside the thoracic cavity.1 This condition occurs with a prevalence of 5 to 8 in 1 000 000 deliveries and is classified depending on its location into five types, that is, cervical, cervico-thoracic, thoracic, thoraco-abdominal, and abdominal.1 The prenatal sonographic diagnosis of ectopia cordis is relatively easy with two-dimensional real-time ultrasound and relies on the demonstration of a pulsating heart outside the fetal chest.2 Although the prenatal diagnosis in the first trimester has been documented by several authors,3,4 the diagnosis before 9 weeks of gestation has not been reported, probably because of the small size of the embryo and the high mortality rate in a significant number of early embryos affected with this condition. We report three cases of ectopia cordis detected incidentally during routine transvaginal sonography before 9 menstrual weeks. Table 1 displays the most relevant clinical and sonographic features in our cases. Two patients were older than 35 years, one was primigravida, and one pregnancy was achieved by in vitro fertilization. The indication for the scan was routine confirmation of dates and viability in an otherwise normal pregnancy in two cases and threatening abortion in another. The gestational age at examination ranged from 55 to 62
menstrual days. The crown-rump length (CRL) was consistent with dates in two cases and smaller than expected for gestational age in one embryo that was also bradycardic at the time of the scan. Extracorporeal location of heart was clearly documented by transvaginal real-time sonography in all three cases (Figure 1; Videos 1 and 2). The patients were informed about the findings and the importance of a sonographic follow-up for confirmation in view that information regarding the prenatal sonographic features of ectopia cordis at this early gestational age had not been described in the literature. A follow-up scan 1 week later demonstrated embryonic demise in all cases. This series documents three cases of ectopia cordis detected before 9 weeks of gestation. According to a recent review of the literature describing 17 cases of ectopia cordis diagnosed in the first trimester,3 the earliest diagnosis was made at 9 weeks in an embryo with a CRL of 28 mm.5 Our three cases were detected even earlier, in embryos with CRLs ranging from 10 to 21 mm. Although pathological proof of ectopia cordis was available in only one of our cases, transvaginal real-time sonography readily demonstrated the abnormal extracorporeal position of the heart in all of them.
Table 1 Early sonographic diagnosis of ectopia cordis: clinical cases MA (years)
P
GA (weeks)
CRL (mm)
1
36
3
8 + 6/7
10
83
2
41
0
7 + 6/7
13
3
23
1
8 + 5/7
21
Case
HR (bpm)
Sonographic findings
Outcome
CRL smaller than dates. Abnormally curved embryonic pole. Extracorporeal pulsating mass with bradycardia.
Demise at F/U scan
132
Extracorporeal pulsating mass
Demise at F/U scan
IVF pregnancy
170
Extracorporeal pulsating mass
Demise at F/U scan
Threatening abortion
Remarks
MA, maternal age; P, parity; GA, gestational age; CRL, crown-rump length; HR, heart rate; F/U, follow-up; IVF, in vitro fertilization. Prenatal Diagnosis 2014, 34, 1231–1232
© 2014 John Wiley & Sons, Ltd.
W. Sepulveda et al.
1232
Figure 1 Transvaginal scans show ectopic location of the heart (arrow). (A) Case 1 (10 mm embryo), (B) case 2 (13 mm embryo), and (C) case 3 (21 mm embryo)
Our report suggests that ectopia cordis could be one of the few congenital defects that can be diagnosed in very early pregnancy. In this series, it was lethal, suggesting that ectopia cordis could be a more frequent condition than previously reported. The suspicion of an extracorporeal pulsating mass in early pregnancy should be therefore considered a condition associated with a high risk for early intrauterine demise, and a follow-up sonographic examination should be mandatory. We confirm that the diagnosis of ectopia cordis is possible even in early first-trimester embryos, so close attention not only to the cardiac motion but also to the location of the fetal heart should be undertaken in pregnancies before 9 weeks.
WHAT’S ALREADY KNOWN ABOUT THIS TOPIC? • Ectopia cordis is a rare, almost invariably lethal, condition that can be readily diagnosed by prenatal sonography. • The prenatal diagnosis of ectopia cordis before 9 weeks has not been reported.
WHAT DOES THIS STUDY ADD? • This series of three cases documents the earliest diagnosis of ectopia cordis reported to date. • Ectopia cordis seems to be associated with a high lethality rate in early embryos, suggesting that this condition could be more frequent than previously reported.
REFERENCES 1. Amato J, Douglas W, Desai U, Burke S. Ectopia cordis. Chest Surg Clin N Am 2000;10:297–316. 2. Bianchi DW, Crombleholme TM, D’Alton ME, Malone FD (eds.). Ectopia cordis. In Fetology: Diagnosis and Management of the Fetal Patient. McGraw-Hill: New York, NY; 2010:411–5. 3. Hannoun A, Usta IM, Sawaya F, Nassar AH. First trimester sonographic diagnosis of ectopia cordis: a case report and review of the literature. J Maternal Fetal Neonat Med 2011;24:867–9. 4. Sepulveda W, Wong AE, Simonetti L, et al. Ectopia cordis in a first-trimester sonographic screening program for aneuploidy. J Ultrasound Med 2013;32:865–71.
Prenatal Diagnosis 2014, 34, 1231–1232
5. Tongsong T, Wanapirak C, Sirivatanapa P, Wongtrangan S. Prenatal sonographic diagnosis of ectopia cordis. J Clin Ultrasound 1999;27:440–5.
SUPPORTING INFORMATION Additional supporting information may be found in the online version of this article at the publisher’s web site.
© 2014 John Wiley & Sons, Ltd.
