Cardiac hemodynamics in fetuses with transposition of the great arteries and intact ventricular septum from diagnosis to end of pregnancy: longitudinal follow-up.

OBJECTIVES: Little is known about cardiac hemodynamics in the fetus with transposition of the great arteries and intact ventricular septum (TGA-IVS). Better understanding of the fetal physiology in TGA-IVS would help to provide insights into specific clinical complications observed after birth, in particular neonatal hypoxia and pulmonary hypertension. The aim of this study was to assess cardiac hemodynamics in fetuses with TGA-IVS by performing systematic longitudinal echocardiographic follow-up from diagnosis to delivery. METHODS: This was a longitudinal retrospective study of fetuses referred between 2010 and 2018 to the Sainte-Justine University Hospital Centre. Complete assessment of cardiac hemodynamics was performed in fetuses with TGA-IVS at 18-22, 28-32 and 35-38 weeks' gestation, which were compared with normal fetuses matched for gestational age. The maximum diameter of the foramen ovale was measured using two-dimensional echocardiography under the guidance of color Doppler echocardiography. Fetal cardiac hemodynamics were analyzed according to postnatal preductal transcutaneous oxygen saturation (TcSO2 ) < 65% or ≥ 65%, as a neonatal outcome, in fetuses with TGA-IVS. RESULTS: In total, 59 fetuses with TGA-IVS and 160 normal fetuses were included. Global cardiac output was significantly higher in fetuses with TGA-IVS than in controls, mainly owing to higher global pulmonary output, while global systemic cardiac output did not differ between TGA-IVS fetuses and controls throughout pregnancy. Aortic flow (right ventricular output in fetuses with TGA-IVS, left ventricular output in controls) was significantly higher in fetuses with TGA-IVS than in normal fetuses. Ductal flow was significantly lower in fetuses with TGA-IVS at every timepoint, and this difference increased considerably after 28-32 weeks. In parallel, the diameter of the foramen ovale was significantly smaller in fetuses with TGA-IVS at 28-32 and 35-38 weeks, with a stagnation in growth after 28 weeks, compared with continuous growth in normal fetuses. Most of these cardiac hemodynamic anomalies in fetuses with TGA-IVS were already present at 18-22 weeks, and the differences became greater at 28-32 weeks' gestation. TGA-IVS neonates with TcSO2 < 65% had lower fetal left ventricular output, higher diastolic ductal retrograde flow and smaller foramen ovale at 28-32 weeks, compared with fetal values in those with postnatal TcSO2 ≥ 65%. CONCLUSIONS: Compared with normal fetuses, those with TGA-IVS undergo a complex redistribution of blood flow during the second half of pregnancy, with higher global pulmonary flow, lower ductal flow (with negative diastolic flow at the end of pregnancy) and a smaller foramen ovale. In addition, fetal cardiac hemodynamic anomalies observed at 28-32 weeks' gestation were associated with lower postnatal TcSO2 . These observations may provide a better understanding of premature closure of the foramen ovale and postnatal hypoxia that are specific to TGA-IVS physiology. © 2019 International Society of Ultrasound in Obstetrics and Gynecology.

Redundancy of foramen ovale flap may mimic fetal aortic coarctation.

OBJECTIVES: To assess the relationship between presence of a redundant foramen ovale flap (RFOF), in the absence of a clearly restrictive foramen ovale, and ventricular disproportion, in three groups of fetuses: (1) those with a final diagnosis of aortic coarctation (CoA); (2) those referred for suspicion of ventricular disproportion and/or CoA which did not develop CoA postnatally; and (3) normal fetuses. METHODS: This was a retrospective study including 73 fetuses: 12 with a final diagnosis of isolated CoA; 30 referred for suspicion of ventricular disproportion and/or CoA, which did not develop CoA postnatally; and 31 normal fetuses. Four-dimensional volume datasets and clips were assessed offline. Maximum diameters of the FOF (FOFD), left atrium (LAD), right atrium, left and right ventricles and, when available, aortic isthmus, were measured, as were areas of the FOF (FOFA), left atrium (LAA) and right atrium. The left/right ratios for all segments of the heart, as well as the FOFD/LAD ratio and FOFA/LAA ratio, were calculated. Regression analysis was performed to assess the relationship between RFOF and ventricular disproportion and means were compared by ANOVA. RESULTS: Repeatability was fair, with all variables having an intraclass correlation coefficient ≥ 83%. In the pooled group of fetuses with no CoA found at birth (normal fetuses plus those with ventricular disproportion (n = 61)), there was a significant linear correlation between redundancy of the FOF and degree of ventricular disproportion (P < 0.01 and P < 0.05 for diameter and area ratios, respectively). Categorizing the FOF redundancy, FOFD/LAD ratio ≥ 0.65 was significantly associated with ventricular disproportion (P = 0.006). Based on the degree of FOF prominence, we described four categories of redundancy, ranging from no redundancy/ventricular disproportion (Stage 0) to severe redundancy/ventricular disproportion with transient obstruction of the foramen ovale or mitral orifice (Stage III). Comparing cases without neonatal evidence of coarctation but FOFD/LAD ratio ≥ 0.65 vs those with neonatal evidence of coarctation, there was no statistically significant difference in the degree of ventricular disproportion or in the Z-score of the aortic isthmus maximum diameter. CONCLUSIONS: This study demonstrates that: (1) there is an association between RFOF and ventricular disproportion, independent of the association with a restrictive foramen ovale, and (2) the presence of a RFOF may mimic CoA. In fact, it causes both ventricular disproportion and a significant reduction in the diameter of the aortic isthmus, associated in some cases also with reversed isthmic flow. Future prospective studies are needed to evaluate whether focusing the sonologist's attention on the appearance of the foramen ovale may reduce the rate of false-positive diagnosis of CoA. Copyright © 2020 ISUOG. Published by John Wiley & Sons Ltd.

Morphometric Features of Patent Foramen Ovale as a Risk Factor of Cerebrovascular Accidents: A Systematic Review and Meta-Analysis.

INTRODUCTION: It is still disputable whether specific morphometric features of the patent foramen ovale (PFO) may stratify patients by the related probability that a discovered PFO is incidental or stroke related. OBJECTIVE: We aimed to determine whether certain morphometrical characteristics of PFO are associated with an increased risk of cerebrovascular accidents, using a meta-analytical approach. METHODS: We performed a systematic review of electronic databases for studies that compared morphometric parameters of PFO assessed by transesophageal echocardiography (TEE) in subjects with cryptogenic cerebrovascular accidents (Group 1) and control (Group 2). Data were extracted and pooled into a meta-analysis. RESULTS: A total of 895 patients with PFO were reported (Group 1: 493, Group 2: 402). No difference was found in the PFO channel length (Group 1: 10.8 [8.6-12.9] mm vs. Group 2: 10.4 [9.1-11.7] mm), as well as in PFO height measured at rest (Group 1: 2.4 [1.5-3.3] mm vs. Group 2: 1.8 [1.4-2.2] mm). The PFO height measured during a Valsalva maneuver was larger in Group 1 (3.5 [2.8-4.1] mm) than in Group 2 (1.7 [1.2-2.2] mm). Also, the septal excursion distance was found to be larger in Group 1 (6.4 [5.1-7.8] mm) than in Group 2 (3.1 [1.8-4.4] mm). The risk of cerebrovascular accident was higher in patients with PFO and concomitant septal aneurysm (OR 4.00; 95% CI 2.63-6.09; p < 0.001) and with large right-to-left shunt PFO (OR 3.81; 95% CI 2.21-6.55; p < 0.001), no such relationship was found for the presence of a Eustachian valve or Chiari's network (OR 1.90; 95% CI 0.90-4.05; p = 0.094). CONCLUSIONS: The TEE may help in identifying PFO that are of high risk of cerebrovascular accident. Greater PFO height during a Valsalva maneuver, larger septal excursion distance, concomitant atrial septal aneurysm, and large right-to-left shunt are associated with stroke-related PFOs.

Contrast Transthoracic Echocardiography Using 50% Glucose as a Contrast Agent for Screening of a Patent Foramen Ovale.

A patent foramen ovale (PFO) is considered a risk factor for neurologic events. The goal of the study described here was to assess the feasibility, advantages, diagnostic sensitivity and accuracy of contrast transthoracic echocardiography examination (cTTE) using 50% glucose as a contrast agent in comparison with the use of agitated saline as contrast to screen for PFO. In our study, we found that the peak time, effective duration and duration of microbubbles produced by 50% glucose were all longer than those produced by the physiologic saline. The sensitivities for detection of PFO with cTTE using physiologic saline and 50% glucose as contrast were 83% (20/24) and 100% (24/24), respectively. TEE suggested a PFO in 24 patients in two groups. Use of 50% glucose as a contrast agent in cTTE examination enables ultrasound technicians to easily observe the right-to-left shunt across the PFO. However, the sensitivities for detection of PFO with cTTE using 50% glucose did not statistically significantly differ from those for physiologic saline.

Right heart dilatation in a fetus with an abnormal foramen ovale valve: an indicator of interatrial communication restriction.

AIMS: Foramen ovale (FO) valve with a shape or motion abnormality is frequently detected during routine obstetric ultrasonic examinations. However, the hemodynamics mechanism of this entity remains unclear. The purpose of the study is to determine the relevance of interatrial communication restriction and resultant morphological modifications. MATERIALS AND METHODS: We reviewed the echocardiographic records of fetuses with isolated abnormal FO valve evaluated between January of 2010 and december of 2016. The size (DFO) of the FO orifice, opening angle (α) of the FO valve, and dimensions of cardiac chambers, FO channel outlet (DOUT) and inferior vena cava (DIVC) were measured. We evaluated their (DFO, DOUT, α) relationships to the diameters of RA and DIVC. Five hundred and seventy normal fetuses were selected to establish the normal range of the DOUT/DIVC ratio so as to provide a criterion for restriction. RESULTS: An abnormal FO valve was identified in 89 fetuses without congenital heart disease, with restriction noted in 62 fetuses (45 fetuses with RA dilatation, 12 fetuses with RA and RV dilatation, and 5 fetuses with no RA dilatation). There were no significant correlations between RA/LA and DFO/DIVC, RA/ LA and α. RA/LA was negatively correlated with DOUT/DIVC (R2=0.97, p<0.01). CONCLUSIONS: For a fetus with an abnormal FO valve, right heart dilatation could be considered as an indicator of interatrial communication restriction, which could be assessed by evaluating the FO channel outlet. The degree of right atrium dilatation indicates the severity of the restriction.

Síndrome Cri du Chat: a propósito de un caso. Características clínicas y evolutivas / Cri du Chat Syndrome: a case report. Clinical and evolutive characteristics

El síndrome Cri du Chat tiene una incidencia de 1/15.000—1/50.000 y es debido a una delección del cromosoma 5p. Los individuos afectos presentan un fenotipo especial, discapacidad intelectual, retraso del lenguaje junto con un llanto agudo característico en las primeras tapas de su vida, si bien, hay una variabilidad clínica según la extensión y localización de la delección. Es muy portante iniciar una terapia rehabilitadora precozmente ara mejorar sus capacidades de aprendizaje y comunicación y así mejorar su calidad de vida. Se presenta el caso 6 un lactante con sospecha clínica del síndrome al nacimiento confirmándose en el estudio genético. Se describen los aspectos clínicos y evolutivos más característicos del síndrome (AU)

The Cri du Chat syndrome has an incidence of 1/15,000 - 1/50,000 and is caused by a deletion of the chromosome 5p. Affected individuals have a special phenotype, intellectual disability, language delay and a characteristic acute cry in the early stages of their life, although there is a clinical variability according to the extent and location of the deletion. It is very important to begin rehabilitation therapy early to improve learning and communication skills and thus improve quality of life. We report the case of an infant with clinical suspicion of the syndrome at birth that was confirmed by genetic testing. We describe the most characteristic clinical and evolutionary aspects of the syndrome (AU)

Transthoracic contrast echocardiography using vitamin B6 and sodium bicarbonate as contrast agents for the diagnosis of patent foramen ovale.

To evaluate the utility of transthoracic contrast echocardiography (cTTE) using vitamin B6 and sodium bicarbonate as contrast agents for diagnosing right-to-left shunt (RLS) caused by patent foramen ovale (PFO) compared to that of transesophageal echocardiography (TEE). We investigated 125 patients admitted to our neurology department with unexplained cerebral infarction and migraine. All patients underwent cTTE using vitamin B6 and sodium bicarbonate as contrast agents, after which they underwent transthoracic echocardiography. The Doppler signal was recorded during the Valsalva maneuver, and TEE examinations were performed. The feasibility, diagnostic sensitivity, and safety of cTTE and TEE for PFO recognition were compared. Evidence of PFO was found in 49 (39.20%) patients with cTTE, more than were detected with TEE (39, 31.20%) (χ2=5.0625, P=0.0244). cTTE had a sensitivity of 92.31% and a specificity of 84.88% for diagnosing PFO, showing high concordance with TEE for PFO recognition (κ=0.72). Further, results of a semi-quantitative evaluation of PFO-RLS by cTTE were better than those with TEE (Z=-2.011, P=0.044). No significant adverse reaction was discovered during cTTE examination. cTTE using vitamin B6 and sodium bicarbonate as contrast agents has relatively good sensitivity and specificity for diagnosing RLS caused by PFO when compared with those for TEE. Using vitamin B6 and sodium bicarbonate as contrast agents to perform cTTE is recommended for detecting and diagnosing the PFO due to its simplicity, non-invasive character, low cost, and high feasibility.

Hipocrecimiento severo y síndrome 2q37 / Severe low growth and 2q37 syndrome

No disponible

Fetal critical aortic stenosis with natural improvement of hydrops fetalis due to spontaneous relief of severe restrictive atrial communication.

We describe a rare case of fetal critical aortic stenosis with spontaneous relief of severe restrictive atrial communication, resulting in complete resolution of hydrops fetalis in utero. Fetal ultrasonography showed hydrops fetalis caused by critical aortic stenosis with a severely restrictive foramen ovale and severe mitral regurgitation at 23 weeks of gestation. Hydrops fetalis, however, spontaneously resolved, showing an obvious increase of flow through the foramen ovale and pulmonary vein at 26 weeks of gestation. The neonate required balloon dilation of the aortic valve and balloon atrioseptostomy immediately after birth and also received bilateral pulmonary artery banding and arterial duct stenting 1 week later. The patient was in good condition after conversion to biventricular circulation via Ross procedure at 8 months old. The present case suggests that atrioseptostomy as a fetal intervention may improve outcome in even a hydropic condition.

Diagnóstico prenatal de cierre prematuro del foramen oval e hidrops fetal / Prenatal diagnosis of foramen ovale premature closure and hydrops fetalis

A case of premature closure of foramen ovale (PCFO) is presented. The patient was sent to the Fetal Maternal Unit after 30 weeks of gestation due to hydrops fetalis. A Doppler ultrasound performed after 34 weeks of gestation showed no interatrial flow and led to the confirmation of PCFO, associated to pleural effusion and ascitis. No evidence of hydrops, pleural effusion, ascitis, cardiac failure, cardiac defects nor chromosomal abnormalities were present in the newborn baby. Since prenatal diagnosis of PCFO is a life threatening condition, detection improves fetal and neonatal life expectancy (AU)

Se reporta el cierre prematuro de foramen oval (CPFO) en un embarazo de 30 semanas de gestación, enviado con hidrops fetal a Unidad de Medicina Materno Fetal. A las 34 semanas se evaluó con Ultrasonido Doppler y se observó falta de flujo entre aurículas, confirmando el CPFO, presencia de derrame pleural y ascitis. Después del nacimiento, al neonato se le descartó la presencia de hidrops, derrame o ascitis, insuficiencia cardiaca, defectos cardiacos o cromosomopatía, y egresó sano. El CPFO pone en riesgo la vida. Cuando es detectado prenatalmente mejora la expectativa de vida fetal y neonatal (AU)

Índices regionais de deformação (Strain/Strain Rate) em neonatos normais / Regional deformation indices (Strain/Strain Rate) in healthy neonates

Introdução: O Doppler tecidual (DT) evoluiu para a determinação da deformação miocárdica regional pela medida do strain rate (SR) e strain (ε) longitudinal (L) e radial (R) unidimensionais. Objetivos: Determinar padrões de normalidade em neonatos nas primeiras 24 horas de vida e estabelecer valores de referência. Casuística e Método: Foram selecionados 55 neonatos, com idade média de 20,14 ± 14,0 horas. Por meio dos cortes apical e paraesternal, em três ciclos cardíacos consecutivos, digitalmente obtidos com taxas de 300 ± 50 ciclos/s, foram realizadas medidas dos componentes sistólico, diastólico inicial e final das curvas de SR/ε, utilizando programa específico. Comparações múltiplas entre paredes e segmentos foram feitas. Resultados: Verificou-se diferença significativa na deformação longitudinal entre as medidas do SR/ε sistólicos do segmento basal da parede septal, em relação à apical (-1,89 ± 0,60, -25,86 ± 4,83 versus -1,66 ± 0,22, -24,23 ± 3,48), P= 0,04 e P= 0,02. A deformação longitudinal regional do VD também não foi homogênea, com diferenças significantes entre os segmentos basal e apical. Os valores absolutos de SR/ε e todos os seus componentes foram maiores na direção R, quando comparados com a L (SR sistólico 2,98 ± 0,78 s-1 versus (-)1,89 ± 0,60 s-1ε sistólico 53,8% ± 19% versus (-) 24,8% ± 3% P< 0,01). A variabilidade interobservador da medida do SR/ε foi de 0,7% e 1,2%, respectivamente. Conclusão: Os índices regionais de deformação miocárdica baseados no Doppler (SR/ε) constituem técnica clínica reproduzível em neonatos, permitindo a análise da função regional em diferentes segmentos do VE e VD. Representam parâmetros novos, não invasivos e independentes da interpretação visual, podendo ser utilizados no diagnóstico de acometimento cardíaco do neonato.

Progressive anatomical closure of foramen ovale in normal neonatal mouse hearts.

In the prenatal heart, right-to-left atrial shunting of blood through the foramen ovale is essential for proper circulation. After birth, as the pulmonary circulation is established, the foramen ovale functionally closes as a result of changes in the relative pressure of the two atrial chambers, ensuring the separation of oxygen depleted venous blood in the right atrium from the oxygenated blood entering the left atrium. Little is known regarding the process of anatomical closure of the foramen ovale in the postnatal heart. Genetically engineered mouse models are powerful tools to study heart development and to reveal mechanisms underlying cardiac anomalies, including defects in atrioventricular septation. Using three-dimensional reconstructions of serial sectioned hearts at early postnatal Days 2-7, we show a progressive reduction in the size of the interatrial communication throughout this period and complete closure by postnatal Day 7. Furthermore we demonstrate that fusion of the septum primum and septum secundum occurs between 4 weeks and 3 months of age. This study provides a standard timeline for morphological closure of the right-left atrial communication and fusion between the atrial septa in normal mouse hearts.

Rare postsurgical complication of atrial septal defect closure: right inflow obstruction due to inadvertent suturing of eustachian valve to interatrial septum.

We report the case of a 20-year-old woman who received corrective surgery for a secundum atrial septal defect, during which right atrial inflow obstruction developed because of inadvertent suturing of the eustachian valve to the interatrial septum. Although reliable cardiac surgical techniques are available, this rather rare complication may have deleterious results for patients. If a previously absent murmur is detected in the lower left parasternal border after atrial septal defect surgery, right atrial inflow obstruction caused by the eustachian valve should be kept in mind and further careful examination undertaken.

A morphometric study of foramen ovale.

AIM: To note the morphological variations and morphometric details of foramina ovale in dry adult skulls of Indian origin. MATERIAL AND METHODS: 82 dry adult human skulls of unknown sex and of Indian origin were obtained and variations in appearance and number of foramen ovale were noted. The length and width of the foramina ovale of both sides were determined using digital Vernier calipers and area (A) was also calculated and analyzed. RESULTS: Out of 82 adult skulls, the values for the right side was 7.64 ± 1.194 mm, 5.128 ± 0.827 mm and 30.808 ± 7.545 mm2 and for the left side the values was 7.561 ± 1.123 mm, 5.244 ± 0.950 mm and 31.310 ± 8.262 mm2 respectively, for the mean length, width and area of the foramen ovale. The shape of foramen was typically ovale in most of the skulls (56.70%) with some bony variations such as spine, tubercles etc. CONCLUSION: There was no statistically significant difference between the two sides in length, width and area of foramen ovale and there was a positive correlation between lengths and areas of both sides.

Late clinical manifestations of mitral valve disease and severe pulmonary hypertension in a patient diagnosed with premature closure of foramen ovale during fetal life.

BACKGROUND: The patency of foramen ovale (FO) in fetal circulation is very important, and premature closure of FO could be associated with several pathological conditions. METHODS: We report a patient in whom premature closure of FO in fetal life was associated with late clinical onset of mitral valve stenosis and subsequent development of irreversible pulmonary hypertension (PH). RESULTS: The patient showed persistent PH after birth, which completely regressed at the age of 8 months. However, the patient developed heart failure due to mitral valve lesions (hammock valve) at the age of 11 months and underwent artificial valve replacement. The patient subsequently developed severe PH, which was refractory to anti-PH therapy with sildenafil and bosentan in addition to home oxygen. CONCLUSIONS: This case illustrates that mitral stenosis can be overlooked during early neonatal life, and thus emphasizes the need for close follow-up for potential existence of mitral stenosis and later clinical manifestation in patients with premature FO closure even when initial careful examination of the mitral valves does not indicate any abnormalities. In addition, premature closure of FO could cause pulmonary vascular disease, which may lead to later development of irreversible PH.

Original Investigations. Potential faces of patent foramen ovale (PFO PFO).

BACKGROUND: Patent foramen ovale (PFO) is diagnosed on echocardiography by saline contrast study with or without color Doppler evidence of shunting. PFO is benign except when it causes embolic events. METHODS AND RESULTS: In this report, we describe unique additional manifestations related to the diagnosis and presentation of PFO. These include demonstration of PFO during the release phase of "sigh" on the ventilator in the operating room, use of a separate venipuncture to allow preparation of blood-saline-air mixture after multiple failed saline bubble injections, resting and stress hypoxemia related to left to right shunting across a PFO in the absence of pulmonary hypertension, presentation of quadriperesis secondary to an embolic event from a PFO and development of a thrombus on the left atrial aspect of PFO in a patient with atrial fibrillation, and on the right atrial aspect of PFO in a patient who had undergone repair of a flail mitral valve. Finally, in one patient with end-stage renal disease, aortic valve endocarditis and periaortic abscess, PFO acted as a vent valve relieving right atrial pressure following development of aortoatrial fistula. CONCLUSION: PFO diagnosis can be elusive if appropriate techniques are not used during saline contrast administration. PFO can present as hypoxemia in the absence of pulmonary hypertension, can be a rare cause of quadriperesis, and can be associated with thrombus formation on either side of interatrial septum. Finally, PFO presence can be lifesaving in those with sudden increase in right atrial pressure such as with aortoatrial fistula.