Patterns of endocardial fibroelastosis without atrioventricular block in fetuses exposed to anti-Ro/SSA antibodies.

Anti-Ro/SSA-antibody-mediated endocardial fibroelastosis (EFE) without atrioventricular (AV) block at presentation is a rare cardiac phenotype. We report on 11 fetuses with this rare type of anti-Ro/SSA-antibody-mediated cardiac involvement, presenting with a distinctive echocardiographic pattern of EFE. Eleven fetuses with isolated EFE at presentation were included from four cardiac centers, and experienced fetal cardiologists reached a consensus regarding EFE location on echocardiography at presentation. Interval changes to subsequent fetal and postnatal echocardiograms were assessed to evaluate response to therapy. Echocardiographic markers of cardiac performance, including diastolic function and AV conduction, were reviewed. Ten fetuses were found to have EFE of the aortic root, proximal aorta and/or left ventricular outflow tract. In the same 10 cases, EFE of the pulmonary root, pulmonary artery and/or right ventricular outflow tract was identified. Six cases had atrial EFE and six had EFE of the crux. Four cases were known to be positive for anti-Ro/SSA antibodies prior to diagnosis, whereas, in the remaining seven, echocardiographic findings prompted testing, which was positive in all cases. The AV interval at presentation was normal in all cases, but one fetus subsequently developed AV block. Nine patients were treated with transplacental dexamethasone, five of which also received intravenous immunoglobulin (IVIG), and one received IVIG only. Of the 10 treated cases, six had improvement in EFE as shown by serial imaging and, in four cases, the severity was unchanged. All patients were liveborn. In our cohort, EFE of the aortic and pulmonary arteries and outflow tracts was nearly universal, and involvement of the atria and the crux of the heart was also common. The high survival rate and low burden of AV block are also suggestive of a distinct phenotype of anti-Ro/SSA-antibody-mediated cardiac disease with a favorable prognosis. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.

Treatment, not delivery, of the late preterm and term fetus with supraventricular arrhythmia.

OBJECTIVE: While in-utero treatment of sustained fetal supraventricular arrhythmia (SVA) is standard practice in the previable and preterm fetus, data are limited on best practice for late preterm (34 + 0 to 36 + 6 weeks), early term (37 + 0 to 38 + 6 weeks) and term (> 39 weeks) fetuses with SVA. We reviewed the delivery and postnatal outcomes of fetuses at ≥ 35 weeks of gestation undergoing treatment rather than immediate delivery. METHODS: This was a retrospective case series of fetuses presenting at ≥ 35 weeks of gestation with sustained SVA and treated transplacentally at six institutions between 2012 and 2022. Data were collected on gestational age at presentation and delivery, SVA diagnosis (short ventriculoatrial (VA) tachycardia, long VA tachycardia or atrial flutter), type of antiarrhythmic medication used, interval between treatment and conversion to sinus rhythm and postnatal SVA recurrence. RESULTS: Overall, 37 fetuses presented at a median gestational age of 35.7 (range, 35.0-39.7) weeks with short VA tachycardia (n = 20), long VA tachycardia (n = 7) or atrial flutter (n = 10). Four (11%) fetuses were hydropic. In-utero treatment led to restoration of sinus rhythm in 35 (95%) fetuses at a median of 2 (range, 1-17) days; this included three of the four fetuses with hydrops. Antiarrhythmic medications included flecainide (n = 11), digoxin (n = 7), sotalol (n = 11) and dual therapy (n = 8). Neonates were liveborn at 36-41 weeks via spontaneous vaginal delivery (23/37 (62%)) or Cesarean delivery (14/37 (38%)). Cesarean delivery was indicated for fetal SVA in two fetuses, atrial ectopy or sinus bradycardia in three fetuses and obstetric reasons in nine fetuses that were in sinus rhythm at the time of delivery. Twenty-one (57%) cases were treated for recurrent SVA after birth. CONCLUSION: In-utero treatment of the near term and term (≥ 35-week) SVA fetus is highly successful even in the presence of hydrops, with the majority of cases delivered vaginally closer to term, thereby avoiding unnecessary Cesarean section. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.

Improved detection of coarctation of the aorta using speckle-tracking analysis of fetal heart on last examination prior to delivery.

OBJECTIVE: The false-positive rate for prenatal diagnosis of coarctation of the aorta (FP-CoA) commonly exceeds 50%, with an accurate detection rate of < 50%. This study was conducted to determine if the sensitivity for prenatal detection of true CoA and the FP-CoA rate could be improved by evaluating the fetal epicardial size and shape in the four-chamber view (4CV) and the endocardial right (RV) and left (LV) ventricular size, shape and contractility. METHODS: We analyzed retrospectively Digital Imaging and Communications in Medicine (DICOM) clips of the 4CV from the last examination prior to delivery in a series of 108 fetuses with CoA suspected prenatally by pediatric cardiologists using traditional diagnostic criteria. Postnatal evaluation distinguished those fetuses which subsequently required CoA surgery (true positives; true CoA) from those that were FP-CoA. Postnatal cardiac abnormalities were identified for each group. For the prenatal evaluation, we measured the 4CV end-diastolic epicardial area, circumference, length, width and global sphericity index. Speckle-tracking analysis was used to compute the endocardial RV and LV end-diastolic area, length, 24-segment sphericity index, 24-segment transverse width and the following functional parameters: fractional area change; global longitudinal, free-wall and septal-wall strain; basal-apical-length, basal free-wall and basal septal-wall fractional shortening; septal-wall annular plane systolic excursion; 24-segment transverse-width fractional shortening; and LV end-diastolic and end-systolic volumes, stroke volume, cardiac output and ejection fraction. In addition, the RV/LV end-diastolic area ratio was computed. Using a control group of 200 normal fetuses, the mean and SD for each of the above cardiac measurements was used to compute the Z-scores for each measurement in each of the 108 study fetuses. Logistic regression analysis was then performed on the Z-score values to identify variables that separated the true CoA group from the FP-CoA group. RESULTS: Of the 108 study fetuses, 54 were confirmed postnatally to have true CoA and 54 were FP-CoA. Right/left area disproportion > 90th centile was present in 80% (n = 43) of the true-CoA fetuses and 76% (n = 41) of the FP-CoA fetuses. Fetuses with true CoA had a significantly greater number of associated cardiac abnormalities (93%, n = 50) compared with the FP-CoA fetuses (61%, n = 33) (P < 0.001). The most common associated malformations were bicuspid aortic valve (true CoA, 46% (n = 25) vs FP-CoA, 22% (n = 12); P < 0.01), aortic arch hypoplasia (true CoA, 31% (n = 17) vs FP-CoA, 11% (n = 6); P < 0.01), ventricular septal defect (true CoA, 33% (n = 18) vs FP-CoA, 11% (n = 6); P < 0.05) and mitral valve abnormality (true CoA, 30% (n = 16) vs FP-CoA, 4% (n = 2); P < 0.01). Logistic regression analysis identified 28 variables that correctly identified 96% (52/54) of the fetuses with true CoA, with a false-positive rate of 4% (2/54) and a false-negative rate of 4% (2/54). These variables included the epicardial size in the 4CV, size and shape of RV and LV, and abnormal contractility of RV and LV. The area under the receiver-operating-characteristics curve was 0.98 (SE, 0.023; 95% CI, 0.84-1). There was no significant difference in the percent of fetuses with RV/LV area disproportion between those with CoA and those that were FP-CoA. CONCLUSIONS: Speckle-tracking analysis of multiple ventricular measurements may be helpful to refine the diagnosis in fetuses that are suspected to have CoA prenatally. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.

Long-term functional and clinical outcomes following transanal advancement flap for complex anal fistula repair: are there predictors of recurrence and incontinence?

AIM: Transanal flap is an attractive technique for complex fistulas. The aim of this study was to identify factors associated with poor outcome, recurrence and incontinence. METHOD: All patients who underwent an advancement flap for the treatment of a complex anal fistula between 1995 and 2019 were prospectively enrolled. The patient data obtained included age, sex, body mass index, comorbid conditions and smoking history. The fistula characteristics analysed included previous anal surgery, anatomy of the fistula according to Park's classification, horseshoe or supralevator extension and preoperative seton drainage. The postoperative data registered included complications, postoperative stay, recurrence and incontinence. Predictive factors for recurrence and incontinence were identified using univariate and multivariate analysis. RESULTS: One hundred and ninety patients were included; 134 (70.5%) were men and the mean patient age was 50 years. The median length of follow-up was 44.6 months. The fistula recurred in 14 patients (7.3%). Before surgery, 20 patients (10.5%) reported incontinence symptoms. In the continent patients a Wexner postoperative score of 0 was identified in 79.4%. Wexner scores between 1 and 3 were observed in 17% and scores of 4 or more in five patients (3%). Factors associated with recurrence included age < 50 years (OR = 4.8, P = 0.02, 95% CI 1.2-19), smoking (OR = 4.1, P = 0.03, 95% CI 1-16.5) and suprasphincteric fistula (OR = 0.5, P = 0.01, 95% CI 0.2-0.8) in multivariate log regression analysis. Major incontinence was influenced by female sex and previous anal surgery (OR = 7.5, P = 0.003, 95% CI 1.6-34 and OR = 0.1, P = 0.007, 95% CI 0.1-0.7, respectively). CONCLUSION: Full-thickness transanal advancement flap is a good treatment for complex anal fistula repair. This study provides relevant information on risk factors for failure of therapy and incontinence, which can help in advising patients before surgery and planning a good treatment strategy.

Keeping upbeat to prevent the heartbreak of anti-Ro/SSA pregnancy.

Linked Comment: Ultrasound Obstet Gynecol 2019; 54: 87-95.

Assessment of atrioventricular conduction by echocardiography and magnetocardiography in normal and anti-Ro/SSA-antibody-positive pregnancies.

OBJECTIVES: The objectives of this study were, first, to evaluate the association between fetal echocardiographic atrioventricular (AV) and magnetocardiographic (fMCG) PR intervals at different gestational ages (GAs) in normal and anti-Ro/SSA-antibody-positive pregnancies; second, to determine if PR interval could be predicted by AV interval; and third, to assess the neonatal outcome of fetuses with prolonged AV and PR intervals, with the goal of developing criteria for fetal first-degree AV block (AVB-I). METHODS: This was a retrospective study of anti-Ro/SSA-antibody-positive pregnancies (cases) and controls that underwent fMCG and fetal echocardiography at the same recording session. Cardiac cycle length, GA and AV (by mitral inflow/aortic outflow Doppler) and PR (by fMCG) intervals were measured. We tested for significant differences between AV and PR intervals using generalized estimating equations to account for repeat measurements, and assessed whether PR interval could be predicted reliably by AV interval. After delivery, infants with fetal AV or PR interval Z-score ≥ 3 underwent 12-lead electrocardiography. RESULTS: Thirty-nine controls and 31 cases underwent 46 and 36 simultaneous fMCG and echocardiographic examinations, respectively; 101 controls and nine cases underwent fMCG only. AV and PR intervals increased with GA (P < 0.05 for both). Overall, AV and PR intervals were significantly different from each other (P < 0.001); this difference was not significant when compared between cases and controls (P = 0.222). PR interval could not be predicted accurately from AV interval and GA alone. Three of four cases with AV and PR interval Z-scores > + 3 had postnatal AVB-I despite treatment. The fourth fetus, which had predominately second-degree AVB and rare periods of AVB-I, progressed to third-degree AVB despite treatment with dexamethasone. CONCLUSIONS: The diagnostic threshold for AVB-I, defined by AV interval Z-score, is GA dependent. Based on the observed data, an AV interval Z-score threshold of 3 (AV interval, 151-167 ms) may be appropriate. Echocardiographic AV interval was not predictive of fMCG-PR interval. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

How barriers to blood donation differ between lapsed donors and non-donors in France.

Blood donors are underrepresented in the general population. Thus, comparing barriers to blood donation between non-donors and lapsed donors is crucial to improving their participation in blood donation and to targeting theses groups in recruitment programmes. The aims of this study were to identify barriers to blood donation and to compare their occurrence between lapsed and non-donors in France. Data from a 2008 survey of 1400 individuals were used to evaluate differences in barriers between two subpopulations: 619 non-donors and 567 lapsed donors. Individuals answered questions concerning sociodemographic variables and donation-related variables. Results show that, in decreasing order, individuals cited medical reasons (32%), lack of time (15.12%), fear (12.20%), negligence (10.03%), lack of information (7.69%), no particular reason (7.18%), lack of solicitation (6.18%), lack of opportunity (5.18%) and prior deferral (4.43%) as barriers to blood donation. After adjusted analysis, non-donors mentioned fear, lack of information and no particular reason more often than lapsed donors, who cited lack of time more often than non-donors. This study has pinpointed nine main barriers to blood donation among the French population, the most significant being medical reasons (for both lapsed and non-donors), lack of time, cited more frequently by lapsed donors, and fear of donating blood, most often cited by non-donors. Future studies are needed to gain greater insight into what these barriers represent for individuals to improve awareness and for recruitment of French blood donors.

[Impact of socioeconomic status on blood donation]. / Influence de l'appartenance à une catégorie socioprofessionnelle sur la pratique du don de sang.

AIM OF THE STUDY: Describe and compare the socioeconomic status of regular donors, occasional donors and nondonors, considering the sociodemographic characteristics and self-rated health of individuals. MATERIAL AND METHODS: The survey of this study consists of 1400 individuals, aged from 18 to 65. Sociodemographic characteristics, blood donation, self-rated health and socio-economic status of individuals have been recorded by phone interviews (mean: 15minutes). Statistical analyses used in this study are Chi(2) and multinomial logistic regressions. RESULTS: Socioeconomic status is associated to donor status. However, it only differentiates nondonors and other population categories: intermediary professions, students and retired are more often regular donors than nondonors. And senior management and higher intellectual professions, as intermediary professions and students are more often occasional donors than nondonors. CONCLUSIONS: Even when sociodemographic variables and self-rated health are considered, socioeconomical status stays associated to blood donor status. Thus, this article highlights the importance of socioeconomic status in the blood donors' population structure. This study also shows that occasional donors, that should be resensitized, belong to the same socioeconomical categories than regular donors. Finally, this article provides research and sensitizing clues for some of the socioeconomic status analysed.

Heart sounds at home: feasibility of an ambulatory fetal heart rhythm surveillance program for anti-SSA-positive pregnancies.

OBJECTIVE: Fetuses exposed to anti-SSA (Sjögren's) antibodies are at risk of developing irreversible complete atrioventricular block (CAVB), resulting in death or permanent cardiac pacing. Anti-inflammatory treatment during the transition period from normal heart rhythm (fetal heart rhythm (FHR)) to CAVB (emergent CAVB) can restore sinus rhythm, but detection of emergent CAVB is challenging, because it can develop in ⩽24 h. We tested the feasibility of a new technique that relies on home FHR monitoring by the mother, to surveil for emergent CAVB. STUDY DESIGN: We recruited anti-SSA-positive mothers at 16 to 18 weeks gestation (baseline) from 8 centers and instructed them to monitor FHR two times a day until 26 weeks, using a Doppler device at home. FHR was also surveilled by weekly or every other week fetal echo. If FHR was irregular, the mother underwent additional fetal echo. We compared maternal stress/anxiety before and after monitoring. Postnatally, infants underwent a 12-lead electrocardiogram. RESULTS: Among 133 recruited, 125 (94%) enrolled. Among those enrolled, 96% completed the study. Reasons for withdrawal (n=5) were as follows: termination of pregnancy, monitoring too time consuming or moved away. During home monitoring, 9 (7.5%) mothers detected irregular FHR diagnosed by fetal echo as normal (false positive, n=2) or benign atrial arrhythmia (n=7). No CAVB was undetected or developed after monitoring. Questionnaire analysis indicated mothers felt comforted by the experience and would monitor again in future pregnancies. CONCLUSION: These data suggest ambulatory FHR surveillance of anti-SSA-positive pregnancies is feasible, has a low false positive rate and is empowering to mothers.

[Voluntariness and blood donation: Proceedings of an ethics seminar held at the National Institute for Blood Transfusion]. / Volontariat et don de sang : compte rendu d'un séminaire de l'Institut national de transfusion sanguine.

Voluntariness stands for one of the four pillars of ethics in blood donation; it is, however, more related to tradition than to legislation. Because it seems necessary to apply "marketing" techniques to blood collection in order to meet the needs in blood components, both in terms of quantity and quality, one wonders if this may be at the expense of this principle of voluntariness. This seminar-belonging actually to a series of seminars in Ethics in Transfusion Medicine-aimed at questioning the possible weakness of voluntariness in the field of blood donation. To achieve this goal, specialists of numerous disciplines in medical sciences, law and humanities gathered to discuss all related issues to voluntariness in blood donation.

Frequency of 22q11 deletions in patients with conotruncal defects.

OBJECTIVES: This study was designed to determine the frequency of 22q11 deletions in a large, prospectively ascertained sample of patients with conotruncal defects and to evaluate the deletion frequency when additional cardiac findings are also considered. BACKGROUND: Chromosome 22q11 deletions are present in the majority of patients with DiGeorge, velocardiofacial and conotruncal anomaly face syndromes in which conotruncal defects are a cardinal feature. Previous studies suggest that a substantial number of patients with congenital heart disease have a 22q11 deletion. METHODS: Two hundred fifty-one patients with conotruncal defects were prospectively enrolled into the study and screened for the presence of a 22q11 deletion. RESULTS: Deletions were found in 50.0% with interrupted aortic arch (IAA), 34.5% of patients with truncus arteriosus (TA), and 15.9% with tetralogy of Fallot (TOF). Two of 6 patients with a posterior malalignment type ventricular septal defect (PMVSD) and only 1 of 20 patients with double outlet right ventricle were found to have a 22q11 deletion. None of the 45 patients with transposition of the great arteries had a deletion. The frequency of 22q11 deletions was higher in patients with anomalies of the pulmonary arteries, aortic arch or its major branches as compared to patients with a normal left aortic arch regardless of intracardiac anatomy. CONCLUSIONS: A substantial proportion of patients with IAA, TA, TOF and PMVSD have a deletion of chromosome 22q11. Deletions are more common in patients with aortic arch or vessel anomalies. These results begin to define guidelines for deletion screening of patients with conotruncal defects.

Estudio comparativo de precisión diagnóstica preoperatoria y la confirmación laparoscópica de hernia hiatal / Comparative study of preoperative diagnostic precision and laparoscopic confirmation of hiatal hernia

Resumen Introducción: La hernia hiatal (HH) de tipo I por deslizamiento es el tipo más frecuente, siendo difícil de definir objetivamente, por lo que el principal foco de controversia es su diagnóstico. El objetivo del presente trabajo es reportar los resultados respecto de la precisión diagnóstica del estudio preoperatorio y confirmarlo con el diagnóstico laparoscópico de este tipo de HH. Materiales y Método: Estudio prospectivo descriptivo de serie que incluyen pacientes con síntomas típicos de enfermedad por reflujo gastroesofágico, los cuales se sometieron a estudio con esófago-gastro-duodenoscopía, estudio manométrico y radiológico de esófago, estómago y duodeno con bario. Se incluyen sólo los pacientes en los cuales la endoscopía revela la existencia de HH por deslizamiento ≪ 5 cm. Estos pacientes se sometieron a tratamiento quirúrgico confirmándose o no la existencia de HH al momento de la exploración laparoscópica. Resultados: El valor predictivo positivo y sensibilidad para manometría fue de un 51,2% y 70%, para la radiología 91,7% y 80,5% y para endoscopia 80,3% y 70,7% respectivamente. Conclusión: Para el diagnóstico confiable de HH antes del tratamiento, las tres investigaciones mencionadas deben ser obligatorias antes de la cirugía.

Introduction: Being type I hiatal hernia (HH) the most frequent, is difficult to define objectively and therefore, the main focus of controversy is the diagnosis. The aim of this paper is to report the results regarding the diagnostic accuracy of the preoperative study and to confirm it with the laparoscopic diagnosis of hiatal hernia. Materials and Method: This descriptive and prospective study includes patients with typical symptoms of gastroesophageal reflux disease who underwent esophageal-gastro-duodenoscopy, manometry and radiological study of esophagus with barium swallow. Only patients in whom endoscopy reveals the existence of HH by sliding ≪ 5 cm are included. These patients underwent surgical treatment confirming or not the existence of HH at the time of laparoscopic exploration. Results: The positive pre- dictive value and sensibility for manometry was 51.2% and 70%, for radiology 91.7% and 80.5%, and for endoscopy 85.3% and 70.7% respectively. Conclusion: For the reliable diagnosis of HH before treatment, the three mentioned investigations must be mandatory before the surgery.

Evolution of latent hypoparathyroidism in familial 22q11 deletion syndrome.

Latent hypoparathyroidism (LHP), the inability to increase midmolecular parathyroid hormone levels appropriately during a hypocalcemic challenge, was reported previously in an asymptomatic woman with tetralogy of Fallot. This women's fourth child died with DiGeorge anomaly. Seven years later, we restudied the index patient with LHP and evaluated three generations of her family for parathyroid dysfunction, cardiac abnormalities, and del 22(q11). Deletions were found in six relatives, three with conotruncal cardiac defects and three with a structurally normal heart. We found significant transgenerational noncardiac phenotypic variability, including learning difficulties, dysmorphic facial appearance, and psychiatric illness. A spectrum of parathyroid gland dysfunction associated with the del 22(q11) was seen, ranging from hypocalcemic hypoparathyroidism to normocalcemia with abnormally low basal intact parathyroid hormone (iPTH) levels. In addition, LHP found in the index patient 7 years ago had evolved to frank hypocalcemic hypoparathyroidism. In this family, which is the largest family with 22q11 deletions studied to date, parathyroid gland dysfunction evolved over time. We suggest that the calcium parathyroid hormone axis of unrelated patients with del 22(q11) be followed closely for the development of hypocalcemic hypoparathyroidism.

Autosomal dominant transmission of familial laterality defects.

Heterotaxy results from failure to establish normal left-right asymmetry during embryonic development. Most familial cases are thought to be autosomal recessive. We have identified a family in which 4 individuals from 3 generations manifest laterality defects. Twenty-five family members have been examined. Two have complete reversal of normal laterality (situs inversus) while 2 others have asplenia, midline liver, and complex cardiac malformations (situs ambiguus). Two additional obligate gene carriers are anatomically normal (situs solitus). Male-to-male transmission confirms autosomal inheritance. Identification of this family establishes an autosomal dominant form of laterality defect, suggesting that a portion of sporadic cases may be new-mutation dominant or unrecognized familial cases. The finding of all forms of laterality (solitus, ambiguus, and inversus) among obligate disease gene carriers within a single family may be relevant to genetic evaluation and counseling in apparently isolated patients with laterality disturbance.