Case Reports in Obstetrics and Gynecology

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Case Report | Open Access

Volume 2015 |Article ID 154690 | https://doi.org/10.1155/2015/154690

Raquel Garcia Rodriguez, Azahara Rodriguez Guedes, Raquel Garcia Delgado, Lourdes Roldan Gutierrez, Margarita Medina Castellano, Jose Angel Garcia Hernandez, "Prenatal Diagnosis of Cardiac Diverticulum with Pericardial Effusion in the First Trimester of Pregnancy with Resolution after Early Pericardiocentesis", Case Reports in Obstetrics and Gynecology, vol. 2015, Article ID 154690, 11 pages, 2015. https://doi.org/10.1155/2015/154690

Prenatal Diagnosis of Cardiac Diverticulum with Pericardial Effusion in the First Trimester of Pregnancy with Resolution after Early Pericardiocentesis

Academic Editor: Babatunde A. Gbolade
Received19 May 2015
Revised06 Sep 2015
Accepted13 Sep 2015
Published08 Oct 2015

Abstract

Cardiac diverticulum is a rare anomaly, which may present in association with pericardial effusion. Only few cases diagnosed during fetal life have been published and only in 12 cases pericardiocentesis was made with good postnatal outcomes in 83% of the cases. In the first trimester of pregnancy only 6 cases were reported. We described the largest series of cases published. We describe a case of cardiac diverticulum complicated with pericardial effusion during the first trimester of pregnancy and resolved by intrauterine pericardiocentesis at 17 weeks of pregnancy. We made a systematic review of the literature with the cases reported of cardiac diverticulum, management, and outcomes.

1. Introduction

Cardiac diverticulum is a rare anomaly, which may present in association with pericardial effusion and may produce complications such as pulmonary hypoplasia or hydrops fetalis. Only a few cases diagnosed during fetal life have been published and 10 cases during the first trimester of pregnancy.

We describe a case of cardiac diverticulum complicated with pericardial effusion, which was diagnosed at 14 weeks of pregnancy and resolved by intrauterine pericardiocentesis at 17 weeks of pregnancy.

We review the ultrasound findings, management, and outcomes in 34 cases published in the literature, 21 of which were associated with pericardial effusion, and in 12 cases a pericardiocentesis was performed. In this group of pericardiocentesis, 10 cases have good postnatal outcomes.

In light of the good neonatal outcome of this procedure, we propose that early pericardiocentesis should be considered as a therapeutic option in these cases that do not resolve spontaneously.

2. Case Report

A 22-year-old sub-Saharan woman, gravida 2 para 1, was referred to the Unit of Prenatal Diagnosis and Fetal Therapy at 12 + 4 weeks of gestation for a fetal hydrothorax. The ultrasonographic study revealed the presence of severe pericardial effusion. The first trimester screening showed 2.9 mm nuchal translucency, reversed ductus venosus a-wave, absent nasal bone, and absence of tricuspid regurgitation. All other anatomical and echocardiographic findings were normal. Biochemical markers were β-hCG 0.14 MoM and PAPP-A 0.72 MoM. The screening results indicated high risk of chromosomopathy. Therefore, a chorionic villus samplingbiopsy study was performed, which revealed a normal 46 XY karyotype. On week 14 of pregnancy, pericardial effusion was still observable. Furthermore, a two-millimeter anechoic image was found on the heart apex, with a narrow base and expanding from the ventricular wall into the pericardium. Blood flow could be observed through this structure with color Doppler sonography. On this basis, the diagnosis of a cardiac diverticulum was made (Figure 1). The rest of the echocardiography was normal.

Serial ultrasound studies were conducted until week 17 of pregnancy (Figure 2). Given that the pericardial effusion persisted, pericardiocentesis with a 20-gauge needle (like amniocentesis) was performed and a clear serum-like fluid was removed. After pericardiocentesis, both lungs expanded and only a small amount of residual fluid remained. Results of the infections study of the amniotic fluid (Toxoplasma, cytomegalovirus, rubella, herpes virus, and parvovirus B19) were negative. A week after pericardiocentesis, no new pericardial effusion was detected. The clinical picture remained stable until week 25, when cardiomegaly and thickening of the ventricular walls were observed, thus leading to a diagnosis of hypertrophic myocardiopathy. Ultrasound studies showed normal ventricular function without signs of cardiac failure. On week 40, a boy was born in eutocic delivery, with 3150-gram body weight, 9/10 Apgar score, and 7.29 umbilical artery pH. The newborn was admitted to hospital for cardiological study. Subsequent serial examinations ruled out hypertrophic myocardiopathy, although they showed residual pericardial effusion, an apical cardiac diverticulum, persistent small ductus venosus, and permeable oval foramen. At present, the child is four years old, remains asymptomatic, and is on a prophylactic treatment with acetylsalicylic acid. He is being monitored in annual follow-up visits to the Service of Pediatric Cardiology.

3. Discussion

A cardiac diverticulum is a protrusion located on the ventricular wall, in close communication with it. This rare entity has been scarcely reported in the literature. Prenatal diagnosis may be difficult when it appears isolated [1]. Since such formations are closely communicated with the heart ventriculum, bidirectional blood flow may be observed through them with color or pulsed Doppler sonography [1].

Two types of diverticula are known: apical and nonapical [2, 3]; their characteristics are shown in Table 1. Apical diverticulum of the left ventriculum may be of three different types: apical isolated diverticula, which are not associated with other malformations; multiple diverticula, which are located on the diaphragmatic or anterior surface of the ventriculum; and large apical diverticula, which are associated with midline thoracoabdominal malformations or with the Pentalogy of Cantrell [4]. Although their etiology is not known, they seem to be caused by local weakening of the ventricular wall, which may in turn be due to possible embryogenesis defects [5], secondary to infections, or caused by local ischemia resulting from coronary anomalies, such as stenosis, hypoplasia, intimal proliferation, and thrombosis [68]. Differential diagnosis should include aneurisms (Table 1) [6, 912], myocardiopathy, Ebstein’s anomaly, and auriculoventricular regurgitation [9].


Isolated apical diverticulumNonapical diverticulumAneurism

EtiopathogenyEmbryogenesis defectCongenital or acquired focal defect in the muscle wall (viral infection, injury to coronary artery, etc.)Congenital or acquired focal defect in the muscle wall (viral infection, injury to coronary artery, etc.)

Implantation base on ventriculumNarrow baseNarrow baseWide base

SizeSmallSmallLarge

Development during pregnancyConstant size throughout pregnancyConstant size throughout pregnancyEnlarging with gestational age

HistologyMyocardium in walls; usually presenting the three layers (myocardium, pericardium, and endocardium)Myocardium in walls, usually presenting the three layers (myocardium, pericardium, and endocardium)Myocardium disruption, usually presenting thin myocardium and fibrous tissue

KinesisNormalNormalAkinetic, hypokinetic, and dyskinetic

ContractilityContractility in synchrony with heart’s rhythmContractility in synchrony with heart’s rhythmContractility paradoxical with heart’s rhythm

ComplicationsDepending on the associated anomaliesUsually not occurringArrhythmia, thromboembolism, heart failure, and rupture

PrognosisGoodGoodBad

We made a systematic review of the literature with PubMed and Embase database search in English, French, or German which was performed without any restriction of publication date or journal, using the following key words: fetal cardiac diverticulum. The last search was updated in December 2012.

For each included case we focused on the following criteria: time of diagnosis, pericardial effusion association, management, intrauterine evolution, associated complications, and time of delivery fetal outcome (intrauterine death/stillbirth, death after delivery, and survival). We excluded the cases of cardiac aneurysm. After reviewing 27 articles, 34 cases published between 1990 and 2012 met the above criteria in which cases of fetal cardiac diverticulum were presented (Table 2) with our case included.


AuthorGA di SizeSexLocationKaryotypeAssociated anomaliesInterventionPrenatal progressionNeonatalFollow-up

1Kitchiner et al. (1990) [13]33FemaleApex VICardiomegalyNoStableVaginal delivery 40 w; cardiomegaly, tachypnea, heart murmur, muscular IVC, and mild mitral regurgitationAsymptomatic at 3.5 months of life

2Hornberger et al. (1994) [9]31Lateral wall below tricuspid valve (RV)NoStableVaginal delivery at termAsymptomatic at 12 months of life

3Carles et al. (1995) [24]13MaleApex LVPericardial effusionTOP 14 w

4Cesko et al. (1998) [25]17MaleApex RV46XYPericardial effusionTOP 22 wStable

5 Cavallé-Garrido et al. (1997) [6]20LargeFemaleLateral wall below mitral valve (LV)Trisomy 18Ventricular septal defect, hydropsNoFetal death 26 w

6Cavallé-Garrido et al. (1997) [6]19SmallFemaleApex RVNoNoStable spontaneous resolution at 34 wAsymptomaticAsymptomatic at 22 months of life

7Cavallé-Garrido et al. (1997) [6]19SmallApex RVPericardial effusionPC 20 wStableAsymptomaticAsymptomatic at 12 months of life

8Cavallé-Garrido et al. (1997) [6]36SmallMaleLateral wall below tricuspid valve (RV)Pericardial effusionAsymptomatic at 18 months of life

9Johnson et al. (1996) [16]193 mmFemaleApex RV46XXPericardial effusionPC 20 wNo relapse after PC, no growthEutocic delivery 41 w; weight 3700 grams; asymptomaticAsymptomatic at 16 months of life

10Brachlow et al. (2006) [23]32Apex LVCardiomegalyNoStableAsymptomatic at 6 months of life

11Bernasconi et al. (2004) [26]2210 × 5 mmMaleLV lateral wall below mitral valve46XYPericardial effusionPC 22 wFetal death 26 w, probably due to diverticulum rupture

12 McAuliffe et al. (2004) [27]134 × 6 mmMaleApex RV46XYFirst trimester NT 4.2 mm
Pericardial effusion
PC 16 wResolution of the effusion; CD stableEutocic delivery 38 w; weight 3070 grams; asymptomaticAsymptomatic at 10 months of life

13McAuliffe et al. (2004) [27]134 × 3 mmMaleApex RV46XYFirst trimester NT 2 mm
Pericardial effusion
PC 14 wResolution of the effusion; CD stableEutocic delivery 38 w; weight 3150 grams; asymptomaticAsymptomatic at 8 months of life

14Prefumo et al. (2005) [1]145 × 5MaleApex RV46XYFirst trimester NT 3.7 mm; pericardial effusion, ascites, and skin edemaPC 16 wResolution of the effusion and hydrops; CD stable; mild cardiomegalyVaginal full-term eutocic delivery; asymptomaticAsymptomatic at 22 months of life

15Prefumo et al. (2005) [1]121 mmApex RVFirst trimester NT 1.2 mm Pericardial effusionNoSpontaneous resolution of PE with 21 w; CD stableFull-term eutocic delivery, asymptomatic Asymptomatic at 17 months of life

16Gardiner et al. (2005) [19]142-3 mmApex RVNormalPericardial effusionPC 14 wResolution of the effusion and hydrops; CD collapsedAsymptomatic at birth

17Gardiner et al. (2005) [19]142-3 mmApex RVNormalPericardial effusionTOP

18 Del Río et al. (2005) [18]135 × 5FemaleApex RV46XXPericardial effusion, septal defect AVNoSpontaneous resolution at 28 wEutocic delivery 40 w; weight 3400 grams, asymptomatic at birthCorrection of septal defect at 3 months of life, resection of diverticulum; asymptomatic at 8 months of life

19Wax et al. (2007) [14]206 × 9 mmMaleJunction base RV-infundibulumNoNoStableFull-term eutocic delivery; weight 3689 grams; asymptomatic; small permeable FOAsymptomatic at 18 months of life

20Koshiishi et al. (2007) [17]247 × 10 mmLateral wall below tricuspid valve (RV)Mild pericardial effusion; MC pregnancy with laser intervention for TTTS at week 20 where donor fetus died NoStablePrenatal fetal death at 29 w

21Pradhan et al. (2007) [28]28Apex LVFetal arrhythmia
Hydrops fetalis
Medical treatment (digoxin) Vaginal delivery 40 wAsymptomatic at 12 months of life

22Barberato et al. (2009) [29]165 × 5.7 mmApex LVMild pericardial effusion PC 20 wDiscrete enlargement of PE with normal heart functionPrenatal fetal death 37 w

23Barberato et al. (2009) [29]3012 × 13 mmMitral subvalvularLV dilatation and reduced systolic functionNoStableAsymptomatic at 6 months of life

24Davidson et al. (2006) [15]20Apex RVPericardial effusionNoSpontaneous resolution Surgical treatment

25 Williams  et al.(2009) [3]215 × 5.5 mmMaleRVPericardial effusionPC 24 wMild tricuspid regurgitation at 31; CD stableFull-term deliveryAsymptomatic at a year of life

26Perlitz et al. (2009) [30]227 × 4 mmMaleRV lateral wall NoNoStable, CD growth up to 9 × 9 mmEutocic delivery week 40; weight 4010 grams; asymptomatic at birthAsymptomatic at a year of life

27 Menahem (2010) [31]19Apex LVPericardial effusionNo controls performedFull-term live birthAsymptomatic at 10 months of life

28 Carrard et al. (2010) [32]132.6 × 2.9 mmMaleRV lateral wall 46XYFirst trimester NT 2.2 mm
Pericardial effusion
PC 17 wResolution after PC; CD collapsed at 26 wEutocic delivery 40 w, 2780 gramsAsymptomatic at 11 months of life

29 Abi-Nader  et al. (2009) [2]223-4 mmMaleRV46XYPericardial effusionNoResolution at 32-33 w PROM 34 w; Intubation due to prematurity; caesarean section; weight 2460 gr; 2 muscle IVCsAsymptomatic at 14 months of life

30Abi-Nader et al. (2009) [2]2111 × 15 mmMaleRV lateral wall below tricuspid valve IsolatedEutocic delivery; weight 2780 gr; asymptomatic at birthAsymptomatic at 16 months of life

31Abi-Nader et al. (2009) [2]2526 × 16 mm (37 s)MaleRVArrhythmia and reduced systolic function Induced deliveryCaesarean section 38 + 5 w; weight 3270 grams; mild reduction of systolic function and premature ventricular contractions at birthAsymptomatic at 3 years of life, on prophylactic treatment with acetyl salicylic acid

32 Williams et al. (2009) [3]17Apex LVNormalMesocardia, perimembranous IVCNoStableFull-term live birthAsymptomatic at 2 years of life

33 Paoletti  and Robertson (2012) [20]211.6 × 0.4 mmApex LVNormalDefect on thoracoabdominal midline TOP

34 Nam et al. (2010) [21]3112 mm (postnatal)RV lateral wall below tricuspid valveNoVentricular septal defectFull-term live birth; asymptomatic at birth; symptoms at 45 days of life: closure of septal defect at 3 months of lifeAsymptomatic at 10 months of life

35Our case142 mmMaleApex RV46XYPericardial effusionPC 17 wPE resolution after treatment; CD stable; moderate cardiomegaly; normal heart functionFull-term live birth; spontaneous eutocic delivery 40 + 1 w; weight 3150 gramsAsymptomatic at 4 years of life

GA di: gestational age at diagnosis; RV: right ventriculum, LV: left ventriculum; w: weeks of pregnancy; TOP: termination of pregnancy; PC: pericardiocentesis; CD: cardiac diverticulum; IVC: interventricular communication PE: pericardial effusion; PROM: premature rupture of membranes; NT: nuchal translucency.
Diagnosis was made during the pathological examination after death. Diagnosis of the ventricular septal defect was made after birth.

It was most frequently diagnosed during the second trimester of pregnancy (51%). During the first trimester, 29% of cases were diagnosed; three of them presented increased nuchal translucency. This entity affects male fetuses more than female ones (3 : 1); its most frequent location is on the right ventriculum (70%) and the most frequently involved area is the heart apex (57%). Ultrasonographic findings associated with diverticula include pericardial effusion, cardiomegaly, septal defects and arrhythmia with fetal death before delivery, and hydrops [6, 13, 14]. Pericardial effusion is the most frequently associated finding (63%) and should be considered an indirect sign of the presence of cardiac diverticula. Although the etiology of effusion is not known, it has been proposed to result from the diverticulum rubbing the pericardial walls or from heart failure. Thus, the observation of pericardial effusion makes it necessary to examine the cardiac function [1, 6, 15].

A problem associated with pericardial effusion is that the resulting compression may produce heart failure and pulmonary hypoplasia. The management of such cases (Table 3) usually varies from performing pericardiocentesis to adopting an expectant approach. In a published series of 22 cases, pericardiocentesis was performed in 12 (56%) fetuses of 14 to 25 weeks’ gestational age, with an outcome of 10 cases that progressed favorably (83%) and 2 intrauterine deaths (17%) [16, 17]. In the cases of fetal death, the pericardial fluid was blood. In the same series, 7 cases were managed with an expectant approach (32%). Five of them showed spontaneous resolution (71%) and 2 resulted in intrauterine death (29%): one of them, which occurred on week 26, was associated with trisomy 18 and the other, which occurred on week 29, was associated with treated twin-to-twin transfusion syndrome and death of one of the twins after treatment [6, 18].


ReferenceGA PEGA DiLoc.Size (mm)InterventionPE findingsPrenatal progressionPostnatal progression

1Carles et al. [24]13Apex LVTOP 14 w

2Cesko et al. [25]17APApex RV3 mmTOP 22 w

3 McAuliffe et al. [27]1414Apex RV2-3 mmTOP

4Cavallé-Garrido et al. [6]19RV3 mmNoSpontaneous resolution at 34 wAsymptomatic at 22 months

5Cavallé-Garrido et al. [6]20LV lateral wall below mitral valveLargeNoPrenatal fetal death at 26 w, trisomy 18

6Prefumo et al. [1]1212Apex LV1 mmNoSpontaneous resolution, effusion disappeared at 14 weeks; CD was not visible on ultrasound examination from week 21Asymptomatic at birth effusion or diverticulum not visible; asymptomatic at 17 months’ follow-up

7 McAuliffe et al. [27]1313Apex RV5 × 5 mmNoSpontaneous resolution; CD did not grow Perimembranous IVCIVC and IAC (postnatal); asymptomatic up to 3 months of age; surgical treatment; asymptomatic at 8 months of age

8 Pradhan et al. [28]2020Apex RVNoSpontaneous resolution CD did not growSurgical treatment at birth

9 McAuliffe et al. [27]2124RV lateral wall7 × 10 mmNoFetal death on week 29

10 Perlitz et al. [30]1919Apex LVNoNo control performedFull-term live birth; asymptomatic at 10 months of age; heart murmur; no treatment

11Cavallé-Garrido et al. [6]19Apex RVPC 20 wNo PE relapse, CD did not growFull-term live birth; asymptomatic at 12 months of age

12 Carles et al. [24]1919Apex RV3 mmPC 20 w7 cm3 yellow fluid, 20 gr/L proteins (transudate), acellularNo PE relapse, CD did not growFull-term live birth; asymptomatic at 16 months of age; no treatment

13 Cesko et al. [25]22APPared lateral LV10 × 5 mmPC 25 w25 mL old blood fluidIntrauterine fetal death at 26 weeks (CD rupture)

14 Brachlow et al. [23]1313Apex RV4 × 6 mmPC 16 w3 mL serohematic fluid, 18 gr/L proteins (transudate), lymphocytes, and mesothelial cellsNo PE relapse or enlarging; CD was not visible on week 37Full-term live birth; asymptomatic at 10 months of age; no treatment

15Brachlow et al. [23]1313Apex RV4 × 3 mmPC 14 w0.8 mL serohematic fluid, 15 gr/L proteins (transudate)No PE relapse; CD did not growFull-term live birth; asymptomatic at 8 months of age; no treatment

16Prefumo et al. [1]1414Apex RV5 × 5 mmPC 16 w5 mL clear fluidNo PE relapse; CD did not grow; mild cardiomegalyFull-term live birth; asymptomatic at 22 months of age; no treatment

17Gradiner et al. [19]1414Apex RV2-3 mmPC 14 w2 mL yellow fluidNo PE relapse; CD did not growFull-term live birth; asymptomatic; no treatment

18Carrard et al. [32]1315Apex RV2.6 × 2.9PC 17 w4 mL clear fluid, 21 g/L proteins (transudate)No PE relapse; diverticulum was not visible from week 26 onFull-term live birth; asymptomatic at 11 months of age; no treatment

19 Williams et al. [3]2121Apex RV5 × 4.5PC 24 wYellow fluid 10 mL, 15.4 g/L proteins (transudate), lymphocytesComplete resolution one week after PC CD did not growFull-term live birth; asymptomatic at one year of age; no treatment

20Barberato et al. [29]1616PC 20 wBlood-stained fluidModerate growth of PE size as compared with postpuncture effusion; expectant approach Intrauterine fetal death on week 37

21 Abi-Nader et al. [2]1222Apex RVPC 18 wRelapse one week later and subsequent spontaneous resolution on weeks 32-33

22Our case1214Apex RV2 mmPC 17 wClear yellow fluid, acellular, transudateNo PE relapse; CD did not grow; moderate cardiomegalyFull-term live birth; asymptomatic at birth; treatment with ASA; asymptomatic at 4 years of age

GA PE: gestational age at pericardial effusion; GA di: gestational age at diverticulum diagnosis; RV: right ventriculum, LV: left ventriculum; w: weeks of pregnancy; PC: pericardiocentesis; CD: cardiac diverticulum; IVC: interventricular communication; PE: pericardial effusion.

Our review is the largest series published in the literature with 34 cases of fetal cardiac diverticula. If we exclude the cases of termination of pregnancy, chromosomal abnormalities, and pregnancy complications (twin-to-twin transfusion syndrome), the cardiac diverticulum is a benign condition with good postnatal outcomes, with a mortality of 0.6%. In the cases with pericardial effusion, a pericardiocentesis, performed from 16 weeks of gestation with a 20-gauge needle, seems to be a safe procedure with good outcomes in 83% of cases. The evolution of the pericardial effusion and the diverticula (spontaneous resolution, stability, or progression) is not known because there are few cases published, but the risk of cardiac insufficiency, hydrops fetalis, or pulmonary hypoplasia could be avoided with this procedure.

In our case we made an early diagnosis and treatment with pericardiocentesis with resolution of the pericardial effusion with an excellent outcome. Only 10 cases (29%) were reported during the 11–14 weeks’ scan and only 6 cases (17%) with pericardial effusion associated during this period.

Cardiac diverticula are rarely associated with chromosomopathies especially when other malformations are not present [5]. Cardiac abnormalities usually associated with diverticula include ventricular or auricular septal defects, permeable oval foramen, tricuspid atresia, tetralogy of Fallot, persistent left superior vena cava, pulmonary artery hypoplasia, and coarctation of the aorta [5]; cardiomegaly is the most frequently associated complication in the third trimester, like in our case [6, 19]. Usually associated extracardiac malformations include midline thoracoabdominal defects (omphalocele, ectopia cordis, Pentalogy of Cantrell, etc.) [2, 5, 8, 2022].

The prognosis of this entity is generally good, although the outcome largely depends on the size and location of associated anomalies. Cases of rupture, both pre- and postnatal, arrhythmia, fetal death, heart failure, and coronary insufficiency have been described [9, 16, 18, 21, 23]. In these patients, serial control examinations are necessary to detect possible complications. In general, postnatal progression is good and surgery is not necessary in asymptomatic cases [19].

In conclusion, a cardiac diverticulum is a rare entity. The most frequently associated complication is pericardial effusion, which may result in cardiac decompensation, hydrops fetalis, or pulmonary hypoplasia. Although spontaneous resolution of effusion has been reported, pericardiocentesis is a safe and effective technique, which may be used to reduce the risk of secondary disorders in selected cases. Nowadays there are few cases published and the evidence is poor to establish the appropriated management.

Conflict of Interests

The authors declare no conflict of interests.

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Copyright © 2015 Raquel Garcia Rodriguez et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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