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INTRODUCTION AND OBJECTIVE: In recent decades, an association has been reported between epidermolysis bullosa (EB) and dilated cardiomyopathy (DC). DC is typically in an advanced phase when detected, leading to a poorer prognosis. Our objective was to determine the prevalence of DC in patients with EB seen in Hospital San Joan de Déu in Barcelona, Spain, between May 1986 and April 2015. METHODS: This was a descriptive, cross-sectional chart-review study in which we recorded the type and main subtypes of EB and the presence or absence of DC. RESULTS: Fifty-seven patients with EB were found, 19 with EB simplex, 10 with junctional EB, 27 with dystrophic EB (14 dominant dystrophic and 13 recessive dystrophic), and just 1 with Kindler syndrome. DC was detected in only 2 patients with recessive dystrophic EB. Twenty-three patients had presented factors that could have had a causal relationship with the potential onset of DC. CONCLUSION: DC is a possible complication of EB, particularly in recessive dystrophic EB. Periodic follow-up should be performed to make an early diagnosis and start treatment.
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Cardiomiopatias/etiologia , Epidermólise Bolhosa/complicações , Adolescente , Anemia/complicações , Cardiomiopatias/diagnóstico por imagem , Cardiomiopatias/epidemiologia , Causalidade , Criança , Pré-Escolar , Estudos Transversais , Diagnóstico Precoce , Epidermólise Bolhosa/classificação , Epidermólise Bolhosa/genética , Epidermólise Bolhosa Distrófica/complicações , Epidermólise Bolhosa Distrófica/genética , Feminino , Humanos , Masculino , Prevalência , Prognóstico , Fatores de Risco , Viroses/complicaçõesRESUMO
OBJECTIVES: Fetal aortic valvuloplasty (FV) aims to prevent fetal aortic valve stenosis progressing into hypoplastic left heart syndrome (HLHS), which results in postnatal univentricular (UV) circulation. Despite increasing numbers of FVs performed worldwide, the natural history of the disease in fetal life remains poorly defined. The primary aim of this study was to describe the natural history of fetal aortic stenosis, and a secondary aim was to test previously published criteria designed to identify cases of emerging HLHS with the potential for a biventricular (BV) outcome after FV. METHODS: From a European multicenter retrospective study of 214 fetuses with aortic stenosis (2005-2012), 107 fetuses in ongoing pregnancies that did not undergo FV were included in this study and their natural history was reported. We examined longitudinal changes in Z-scores of aortic and mitral valve and left ventricular dimensions and documented direction of flow across the foramen ovale and aortic arch, and mitral valve inflow pattern and any gestational changes. Data were used to identify fetuses satisfying the Boston criteria for emerging HLHS and estimate the proportion of these that would have been ideal FV candidates. We applied the threshold score whereby a score of 1 was assigned to fetuses for each Z-score meeting the following criteria: left ventricular length and width > 0; mitral valve diameter > -2; aortic valve diameter > -3.5; and pressure gradient across either the mitral or aortic valve > 20 mmHg. We compared the predicted circulation with known survival and final postnatal circulation (BV, UV or conversion from BV to UV). RESULTS: Among the 107 ongoing pregnancies there were eight spontaneous fetal deaths and 99 livebirths. Five were lost to follow-up, five had comfort care and four had mild aortic stenosis not requiring intervention. There was intention-to-treat in these 85 newborns but five died prior to surgery, before circulation could be determined, and thus 80 underwent postnatal procedures with 44 BV, 29 UV and seven BV-to-UV circulatory outcomes. Of newborns with intention-to-treat, 69/85 (81%) survived ≥ 30 days. Survival at median 6 years was superior in cases with BV circulation (P = 0.041). Those with a postnatal UV circulation showed a trend towards smaller aortic valve diameters at first scan than did the BV cohort (P = 0.076), but aortic valve growth velocities were similar in both cohorts to term. In contrast, the mitral valve diameter was significantly smaller at first scan in those with postnatal UV outcomes (P = 0.004) and its growth velocity (P = 0.008), in common with the left ventricular inlet length (P = 0.004) and width (P = 0.002), were reduced significantly by term in fetuses with UV compared with BV outcome. Fetal data, recorded before 30 completed gestational weeks, from 70 treated neonates were evaluated to identify emerging HLHS. Forty-four had moderate or severe left ventricular depression and 38 of these had retrograde flow in the aortic arch and two had left-to-right flow at atrial level and reversed a-waves in the pulmonary veins. Thus 40 neonates met the criteria for emerging HLHS and BV circulation was documented in 13 (33%). Of these 40 cases, 12 (30%) had a threshold score of 4 or 5, of which five (42%) had BV circulation without fetal intervention. CONCLUSIONS: The natural history in our cohort of fetuses with aortic stenosis and known outcomes shows that a substantial proportion of fetuses meeting the criteria for emerging HLHS, with or without favorable selection criteria for FV, had a sustained BV circulation without fetal intervention. This indicates that further work is needed to refine the selection criteria to offer appropriate therapy to fetuses with aortic stenosis. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.
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Estenose da Valva Aórtica/cirurgia , Valvuloplastia com Balão , Doenças Fetais/cirurgia , Ultrassonografia Pré-Natal , Estenose da Valva Aórtica/diagnóstico por imagem , Estenose da Valva Aórtica/epidemiologia , Circulação Coronária , Europa (Continente)/epidemiologia , Feminino , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/epidemiologia , Coração Fetal , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Gravidez , Resultado da Gravidez , Estudos RetrospectivosRESUMO
OBJECTIVE: Among late-onset small fetuses, a combination of estimated fetal weight (EFW), cerebroplacental ratio (CPR) and mean uterine artery (UtA) pulsatility index (PI) can predict a subgroup of fetuses with poor perinatal outcome; however, the association of these criteria with fetal cardiac structure and function is unknown. Our aim was to determine the presence and severity of signs indicating cardiac dysfunction in small fetuses, classified as intrauterine growth-restricted (IUGR) or small-for-gestational age (SGA), according to EFW, CPR and UtA-PI. METHODS: A cohort of 209 late-onset small fetuses that were delivered > 34 weeks of gestation was divided in two categories: SGA (n = 59) if EFW was between the 3(rd) and 9(th) centiles with normal CPR and UtA-PI; and IUGR (n = 150) if EFW was < 3(rd) centile, or < 10(th) centile with a CPR < 5(th) centile and/or UtA-PI > 95(th) centile. The small population was compared with 150 appropriately grown fetuses (controls). Fetal cardiac morphometry and function were assessed by echocardiography using two-dimensional M-mode, conventional and tissue Doppler. RESULTS: Compared with controls, both IUGR and SGA fetuses showed larger and more globular hearts (mean left sphericity index ± SD: controls, 1.8 ± 0.3; SGA, 1.5 ± 0.2; and IUGR, 1.6 ± 0.3; P < 0.01) and showed signs of systolic and diastolic dysfunction, including decreased tricuspid annular plane systolic excursion (mean ± SD: controls, 8.2 ± 1.1; SGA, 7.4 ± 1.2; and IUGR, 6.9 ± 1.1; P < 0.001) and increased left myocardial performance index (mean ± SD: controls, 0.45 ± 0.14; SGA, 0.51 ± 0.08; and IUGR, 0.57 ± 0.1; P < 0.001). CONCLUSIONS: Despite a perinatal outcome comparable to that of normal fetuses, the population of so-defined SGA fetuses showed signs of prenatal cardiac dysfunction. This supports the concept that at least a proportion of them are not 'constitutionally small' and that further research is needed.
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Retardo do Crescimento Fetal/diagnóstico por imagem , Retardo do Crescimento Fetal/fisiopatologia , Coração Fetal/fisiologia , Recém-Nascido Pequeno para a Idade Gestacional/fisiologia , Artéria Uterina/diagnóstico por imagem , Adulto , Ecocardiografia/métodos , Feminino , Coração Fetal/diagnóstico por imagem , Peso Fetal/fisiologia , Idade Gestacional , Humanos , Recém-Nascido , Recém-Nascido Pequeno para a Idade Gestacional/crescimento & desenvolvimento , Masculino , Artéria Cerebral Média/diagnóstico por imagem , Gravidez , Resultado da Gravidez , Terceiro Trimestre da Gravidez/fisiologia , Fluxo Pulsátil/fisiologia , Índice de Gravidade de Doença , Ultrassonografia Doppler de Pulso/métodos , Ultrassonografia Pré-Natal , Artérias Umbilicais/diagnóstico por imagemRESUMO
OBJECTIVES: To evaluate, in a cohort of 248 fetuses seen at a tertiary referral center, the frequency of isolated ventricular septal defects (VSD) among all congenital heart defects (CHD), the association with chromosomal and postnatal anomalies and the rate of spontaneous closure. METHODS: This was a 6-year study on 10,800 women referred for fetal echocardiography, with 995 confirmed cases of CHD. The prevalence and characteristics of VSDs were analyzed, including follow-up until 1 year of age. Multivariate binary logistic regression analysis was performed to test the independent contribution of the ratio of the diameter of the VSD to that of the aorta (VSD/aorta ratio) (< 0.5 or ≥ 0.5) and location of VSD (perimembranous or muscular) in the prediction of spontaneous closure before the age of 1 year. RESULTS: Two hundred and forty-eight VSDs (24.9% of all CHDs) were diagnosed, of which 216 (87.1%) were muscular and 32 (12.9%) perimembranous. Median gestational age at diagnosis was 30.4 (range, 17-41) weeks and mean size 2.6 ± 0.77 mm. Clinically relevant chromosomal anomalies were found in one (3.1%) perimembranous VSD compared with none in 216 muscular defects (P = 0.12). Postnatal malformations were diagnosed in eight of the 211 cases (3.8%) evaluated at 12 months postpartum. Spontaneous closure occurred prenatally in 13 fetuses (5.2%) and postnatally in 151 of the 198 infants (76.3%) who had an open VSD at birth. Closure was predicted by the VSD/aorta ratio (odds ratio (OR) 0.445 (95% CI, 0.216-0.914); P < 0.03) and location (OR 0.385 (95% CI, 0.160-0.926); P < 0.03). CONCLUSIONS: In our fetal cardiology unit, isolated muscular VSD is today the most prevalent CHD. In contrast to the findings of postnatal studies, muscular VSDs were more common than perimembranous VSDs. Perimembranous VSDs were associated with a higher risk of chromosomal anomalies than were muscular VSDs, which had a similar risk to those of normal pregnancies. Spontaneous closure of the VSD was frequent and occurred in most cases postnatally.
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Aberrações Cromossômicas/embriologia , Ecocardiografia Doppler em Cores , Aconselhamento Genético , Comunicação Interventricular/diagnóstico por imagem , Cariotipagem , Ecocardiografia Doppler em Cores/métodos , Feminino , Seguimentos , Idade Gestacional , Comunicação Interventricular/embriologia , Humanos , Lactente , Recém-Nascido , Masculino , Gravidez , Resultado da Gravidez , Prevalência , Remissão Espontânea , Ultrassonografia Pré-NatalRESUMO
OBJECTIVES: To evaluate the associations between congenital heart disease (CHD) and head biometry and cerebrovascular blood flow dynamics at the time of diagnosis of CHD in the second trimester of pregnancy. METHODS: This was a study of 95 consecutive fetuses diagnosed with CHD. At the time of diagnosis, fetal biometry was performed and brain perfusion was assessed by middle cerebral artery pulsatility index (MCA-PI), cerebroplacental ratio (CPR) and fractional moving blood volume (FMBV). The results were compared with those of 95 normal fetuses matched for gestational age. RESULTS: Median gestational age at diagnosis was 22 + 3 (range, 20 + 0 to 23 + 5) weeks. Fetuses with CHD showed significantly lower MCA-PI and CPR Z-scores (-0.23 vs 0.34 and -0.37 vs 0.30, respectively; both P < 0.001) and higher FMBV Z-scores (2.35 vs 0.15; P < 0.001). FMBV > 95(th) percentile was observed in 81.1% of cases as compared with 10.5% in controls (P < 0.001). Moreover, cases showed significantly smaller biparietal diameter (BPD) and head circumference (HC) Z-scores (-1.61 vs -0.43 and -0.89 vs 0.09, respectively; both P < 0.001), with a higher proportion of BPD and HC measurements below the 5(th) percentile compared with controls (51.6% vs 13.7% and 26.3% vs 4.2%, respectively; both P < 0.001). These findings were more pronounced in those cases with types of CHD associated with compromised oxygenated blood delivery to the brain, such as left outflow tract obstruction and transposition of the great arteries. CONCLUSIONS: A high proportion of fetuses with CHD have a smaller head and increased brain perfusion already in the second trimester, suggesting an early onset of the mechanisms leading to poorer neurodevelopment later in life.
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Encéfalo/irrigação sanguínea , Encéfalo/embriologia , Doenças Fetais/fisiopatologia , Cabeça/embriologia , Cardiopatias Congênitas/fisiopatologia , Adulto , Biometria/métodos , Velocidade do Fluxo Sanguíneo , Estudos de Casos e Controles , Circulação Cerebrovascular/fisiologia , Ecocardiografia Doppler de Pulso , Feminino , Doenças Fetais/diagnóstico por imagem , Cabeça/anatomia & histologia , Cabeça/diagnóstico por imagem , Cardiopatias Congênitas/diagnóstico por imagem , Hemodinâmica , Humanos , Artéria Cerebral Média/diagnóstico por imagem , Artéria Cerebral Média/embriologia , Gravidez , Segundo Trimestre da GravidezRESUMO
OBJECTIVE: To evaluate the accuracy of four-dimensional (4D) spatiotemporal image correlation (STIC) echocardiography for the diagnosis of fetal congenital heart disease (CHD) in a selected high-risk population. METHODS: Three hundred and sixty-three pregnant women referred for suspected CHD on screening ultrasound were evaluated by means of conventional echocardiography between 14 and 41 weeks' gestation and 4D-STIC volumes were obtained (including gray-scale and color Doppler information). Stored volumes were analyzed, at least 1 year after they had been acquired, by examiners blinded to the patients' identities and outcomes. The STIC diagnoses were compared to those made on conventional two-dimensional echocardiography and the accuracy of diagnosis was assessed with respect to postnatal examination, or autopsy in cases of termination of pregnancy or perinatal death. RESULTS: The mean gestational age at volume acquisition was 24 + 5 weeks. STIC evaluation was possible in 98% of cases. Twenty-one cases were lost to follow-up, with a total of 167 normal hearts and 175 cases of CHD diagnosed at postnatal evaluation. The overall accuracy, sensitivity, specificity and positive and negative predictive values of STIC in determining the presence or absence of CHD were 91.6, 94.9, 88.1, 89.7 and 94.0%, respectively. Absolute concordance with the final specific diagnosis among cases with confirmed CHD was 74.3% for STIC echocardiography, compared with 81.7% for real-time evaluation. CONCLUSION: 4D-STIC echocardiography performed by experienced operators can be used in fetuses at risk for cardiac anomalies in order to reliably provide reassurance of normality or to accurately diagnose major structural heart defects.
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Volume Cardíaco/fisiologia , Ecocardiografia Quadridimensional/métodos , Coração Fetal/diagnóstico por imagem , Cardiopatias Congênitas/diagnóstico por imagem , Adolescente , Adulto , Feminino , Coração Fetal/fisiopatologia , Idade Gestacional , Cardiopatias Congênitas/fisiopatologia , Humanos , Gravidez , Gravidez de Alto Risco , Estudos Prospectivos , Sensibilidade e Especificidade , Ultrassonografia Pré-Natal/métodos , Adulto JovemRESUMO
Early pulmonary valvulotomy in patients with pulmonary atresia and intact interventricular septum allows the development and growth of the right ventricle and two-ventricle circulation. Percutaneous valvulotomy today is a valid alternative procedure to surgical valvulotomy. With the use of the radiofrequency 5F currently available for the treatment of arrythmias atretic pulmonary valve perforation and consecutive balloon dilation may be safely and effectively performed. We describe a case of perforation of a pulmonary valve by radiofrequency in a 15-day-old neonate with pulmonary valve atresia and intact ventricular septum.
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Ablação por Cateter , Atresia Pulmonar/cirurgia , Humanos , Recém-Nascido , MasculinoRESUMO
Vasopressin in cerebrospinal fluid has been measured in 27 fullterm newborns with hypoxic-ischemic encephalopathy. These newborns were divided into three groups according to the degree of neurological involvement, and they have been compared with a control group of 10 newborns. Determinations of vasopressin in cerebrospinal fluid and plasma were done by RIA. The cerebrospinal fluid vasopressin in asphyxiated newborns was higher than in the control group (p < 0.001); the mean concentration in the group of newborns classified as moderate or severe hypoxic-ischemic encephalopathy was higher than in the control group (18.7 pg/ml vs 4.66 pg/ml), and also higher than in the group classified as mild (14.2 pg/ml). Cerebrospinal fluid vasopressin values have a direct relationship to the plasmatic values at 12 hours of life (r = 0.76; p < 0.001). We concluded that vasopressin values in cerebrospinal fluid at 12 hours increase according to the clinical severity of the neonatal hypoxic-ischemic encephalopathy and that they have a strong relationship with plasmatic vasopressin.