Predicting Factors of Surgical Mortality in Children and Adolescents Undergoing Correction of Tetralogy of Fallot

Abstract Background In tetralogy of Fallot, correction surgery is a priority choice, seeing that it is desirable to minimize pulmonary hypoflow and severe hypoxemia, which result in hypoxemic crises, with sudden worsening of cyanosis, tachypnea, and, in some cases, loss of consciousness, seizures, and even death. Objective To evaluate the predicting factors of surgical mortality in children and adolescents undergoing correction of tetralogy of Fallot. Methods Retrospective cross-sectional study carried out by consulting all surgical records of the Child and Adolescent Cardiology Service of the Brazilian National Institute of Cardiology, during the period from 2007 to 2010. Results with p values < 0.05 were considered significant. Results The study evaluated 93 medical records. In relation to the characteristics of the population at the time of surgery, the median age was 3.69 (2.13 to 5.79) years, and 58.06% (n = 54) were male. White was the most common skin color, accounting for 55.43% (n = 51) of cases. In relation to assessment of nutritional status, median weight was 13.25 (10.10 to 17.60) kg, and body mass index was 14.49 (13.44 to 16.28) kg/m2. Down syndrome was present in 11.83% (n = 11) of the patients. All patients underwent correction surgery (n = 93, 100%). Prior cyanotic crisis was found in 53.85% (n = 49) with p = 0.013; surgical procedure duration was 218.83 ± 60.63 minutes, with p = 0.003, and lactate was 1.88 ± 1.33 mg/dL during the immediate postoperative period, with p = 0.009. Regarding the outcome of surgical death, it was found in 15.05% (n = 14) of patients. Mean follow-up lasted 5.68 ± 3.76 years. Conclusions According to the factors analyzed, the duration of the surgical procedure, prior cyanotic crisis, and blood lactate level may be relevant to surgical mortality.

Frequency of chromosome 22q11.2 deletion among newborns with non-syndromic congenital heart defects from western Mexico / Frecuencia de la deleción del cromosoma 22q11.2 en recién nacidos con cardiopatías congénitas no sindrómicas del occidente de México

Abstract Background: Congenital heart defects (CHD) are among the most frequent manifestations of 22q11.2 deletion syndrome. Although we found relatively few studies aimed at specifically detecting 22q11.2 deletion in newborns (NB) with CHD, none of them has been performed in Mexico. Methods: We conducted a prospective hospital-based study from January 2017 to March 2021 in the Genetics and Pediatric Cardiology Services of the Hospital Civil de Guadalajara Dr. Juan I. Menchaca (Guadalajara, Mexico). All consecutive NBs identified with any non-syndromic major CHD confirmed by echocardiography were eligible to participate. A total of 98 NBs were included, 51 males and 47 females. Fluorescence in situ hybridization (FISH) analysis was conducted to search for deletion of chromosome 22q11.2 in interphase nuclei of standard lymphocyte cultures. Results: We found eight patients (8.2%) with CHD and the 22q11.2 deletion, all of them with conotruncal defects, particularly of the truncus arteriosus (p = 0.013), tetralogy of Fallot (p = 0.024), and pulmonary atresia with ventricular septal defect (p = 0.031) subtypes. With de exception of one infant with hypocalcemia and another with hypocalcemia and thymic aplasia, the diagnosis of 22q11.2 deletion was not clinically suspected in the other patients. Conclusions: Our results confirm the importance of excluding the presence of the 22q11.2 deletion in every NB with CHDs, particularly of the conotruncal subtype, even in the absence of other manifestations.

Resumen Introducción: Las cardiopatías congénitas (CC) son una de las manifestaciones más frecuentes del síndrome de deleción 22q11.2. A pesar de que existen relativamente pocos estudios dirigidos a detectar específicamente la deleción 22q11.2 en recién nacidos (RN) con CC, ninguno de ellos ha sido realizado en México. Métodos: Se realizó un estudio prospectivo de base hospitalaria desde enero de 2017 hasta marzo de 2021 en los Servicios de Genética y Cardiología Pediátrica del Hospital Civil de Guadalajara Dr. Juan I. Menchaca (Guadalajara, México). Todos los RN consecutivos identificados con cualquier tipo de CC mayor no sindrómica confirmada por ecocardiografía fueron elegibles para participar. Se incluyeron 98 recién nacidos, 51 de sexo masculino y 47 de sexo femenino. Mediante el análisis de hibridación fluorescente in situ (FISH, por sus siglas en inglés) se realizó la búsqueda de la deleción del cromosoma 22q11.2 en núcleos en interfase de cultivos de linfocitos estándar. Resultados: Se encontraron ocho pacientes (8.2%) con CC y la deleción 22q11.2, todos ellos con defectos conotruncales, particularmente de los subtipos tronco arterioso (p = 0.013), tetralogía de Fallot (p = 0.024) y atresia pulmonar con comunicación interventricular (p = 0.031). Con excepción de un lactante con hipocalcemia y otro con hipocalcemia y aplasia tímica, el diagnóstico de deleción 22q11.2 no se sospechó clínicamente en los demás pacientes. Conclusiones: Los resultados de este trabajo confirman la importancia de excluir la presencia de la deleción 22q11.2 en todos los RN con CC, particularmente del subtipo conotruncal, incluso en ausencia de otras manifestaciones.

Fatores associados ao acidente vascular cerebral isquêmico em crianças e adolescentes com tetralogia de Fallot / Factores asociados con accidente vascular cerebral isquémico en niños y adolescentes con tetralogía Fallot / Factors associated with ischemic stroke in children and adolescents with tetralogy of Fallot

Objetivo: verificar os fatores associados ao acidente vascular cerebral isquêmico em crianças e adolescentes com tetralogia de Fallot. Método: estudo transversal, realizado com análise dos prontuários eletrônicos de crianças e adolescentes com tetralogia de Fallot acompanhados em um ambulatório especializado em cardiologia pediátrica no nordeste brasileiro. Os dados foram processados no SPSS 21.0. Aplicou-se Teste Qui-quadrado e/ou Exato de Fisher para medidas de associação (p≤0,05). Resultados: dos 104 prontuários eletrônicos analisados, o acidente vascular cerebral isquêmico na análise bivariada foi associado com hipotireoidismo, trombofilia, policitemia, endocardite, parada cardiorrespiratória, insuficiência renal aguda e insuficiência cardíaca. No modelo final da análise multivariada, foram preditores de acidente vascular cerebral isquêmico a trombofilia (p=0,011), policitemia (p<0,001) e parada cardiorrespiratória (p=0,005). Conclusão: trombofilia, policitemia e a parada cardiorrespiratória foram associados ao acidente vascular cerebral isquêmico em crianças e adolescentes com tetralogia de Fallot.

Objective: to verify the factors associated with ischemic stroke in children and adolescents with tetralogy of Fallot. Method: a cross-sectional study, carried out with analysis of electronic medical records of children and adolescents with tetralogy of Fallot followed up in an outpatient clinic specialized in pediatric cardiology in northeastern Brazil. The data was processed in SPSS 21.0. Chi-square and/or Fisher's exact test were used for association measures (p≤0.05). Results: of the 104 electronic medical records analyzed, ischemic stroke in the bivariate analysis was associated with hypothyroidism, thrombophilia, polycythemia, endocarditis, cardiac arrest, acute renal failure and heart failure. In the final multivariate analysis model, thrombophilia (p=0.011), polycythemia (p<0.001) and cardiac arrest (p=0.005) were predictors of ischemic stroke. Conclusion: thrombophilia, polycythemia, and cardiac arrest were associated with ischemic stroke in children and adolescents with tetralogy of Fallot.

Objetivo: verificar los factores asociados al ictus isquémico en niños y adolescentes con tetralogía de Fallot. Método: estudio transversal, realizado con análisis de registros médicos electrónicos de niños y adolescentes con tetralogía de Fallot seguidos en una consulta externa especializada en cardiología pediátrica en el noreste de Brasil. Los datos se procesaron en SPSS 21.0. Para las medidas de asociación se utilizó la prueba de Chi-cuadrado y / o Exacta de Fisher (p≤0.05). Resultados: de las 104 historias clínicas electrónicas analizadas, el ictus isquémico en el análisis bivariado se asoció con hipotiroidismo, trombofilia, policitemia y las complicaciones fueron endocarditis, parada cardiorrespiratoria, insuficiencia renal aguda e insuficiencia cardíaca. En el modelo final del análisis multivariado, los predictores de ictus isquémico fueron trombofilia (p = 0,011), policitemia (p <0,001) y paro cardíaco (p = 0,005). Conclusión: la trombofilia, la policitemia y el paro cardiorrespiratorio se asociaron al ictus isquémico en niños y adolescentes con tetralogía de Fallot.

Tetralogia de Fallot Associada a Artéria Subclávia Direita Aberrante. Implicações Clínicas / Tetralogy of Fallot Associated with Aberrant Right Subclavian Artery. Clinical Implications

Resumo Desde a primeira descrição da tetralogia de Fallot (ToF) em 1671 por Niels Stensen e em 1888 por Étienne-Louis Arthur Fallot, vários trabalhos relataram essa anomalia juntamente com suas variantes e anomalias cardiovasculares concomitantes. A artéria subclávia direita aberrante (ASDA) é a anomalia do arco aórtico mais comum. Diferentemente da artéria subclávia esquerda aberrante, a ocorrência de ASDA em pacientes com ToF só foi relatada casuisticamente. Apresentamos dois pacientes de ToF com ASDA. É importante notar que o conhecimento da coexistência das duas anomalias tem pontos muito práticos durante correções endovasculares ou cirúrgicas de defeitos cardíacos congênitos (inclusive ToF).

Abstract Since the first description of Tetralogy of Fallot (ToF) in 1671 by Niels Stensen and in 1888 by Étienne-Louis Arthur Fallot, numerous papers have reported on this anomaly, along with its variants and concomitant cardiovascular anomalies. Aberrant right subclavian artery (ARSA) is the most common anomaly of the aortic arch. Different from the left aberrant subclavian artery, occurrence of ARSA in ToF-patients has only casuistically been reported so far. The present study reports on two ToF-patients with ARSA. It is important to note that knowledge of the coexistence of both anomalies has highly practical points during surgical or endovascular corrections of congenital heart defects (including ToF).

Intracardiac Repair in Late Adolescent and Adult Tetralogy of Fallot — Early and Midterm Results from a Tertiary Care Centre

Abstract Introduction: In developing countries like India, it is common for late presentation of Tetralogy of Fallot (TOF) patients to a hospital as compared to that of developed countries. The objective of this study is to analyze the surgical outcome of TOF patients with age > 15 years. Methods: This is a retrospective descriptive study of the surgical outcomes of 45 adult patients undergoing correction for TOF. Epidemiology, symptomology, and preoperative evaluation were performed. Results: Most of the patients were male (33 [73%]). The median age was 21 years. A total of 42 (93.33%) patients had subaortic ventricular septal defect (VSD), while three (6.6%) patients presented with doubly committed VSD. The most common type of right ventricular outflow tract (RVOT) obstruction was combined infundibular and valvular types, accounting for 34 cases (75.5%). Six patients had infundibular RVOT obstruction, while three patients (6.6%) had predominantly valvular pulmonary stenosis. We performed trans-right atrial repair in 33 patients. Right atrium-pulmonary artery approach was used in five patients (11.1%). The most common postoperative complication was right bundle branch block, seen in 14 patients, with a mortality rate of 2% in the early postoperative period. We achieved excellent early and midterm survival results and significant improvement in functions and disease-free quality of life. Conclusion: Intracardiac repair in adult TOF can be performed with low mortality, less residual RVOT obstruction, and need for revision of RVOT far less frequent by using the Jhajhria Infundibular Resection Adequacy Assessment technique (JIRAAT) to assess for adequacy of infundibular resection.

Terminal deletion of the short arm of chromosome 6 (6P25 3P 243): a literature review and case report of a Brazilian child / Deleção terminal do braço curto do cromossomo 6 (6p25 3p 243): uma revisão de literatura e relato de caso de uma criança brasileira

Introduction: Deletion syndromes are rare events in clinical practice. A chromosomal deletion occurs when seg-ments of genetic information are missing on a particular chromosome or more. The absence of some genes implies varied phenotypes, which detailed explanation is not fully elucidated yet. Objective: Report the case of a child with a terminal segment deletion of 8,9 Mb on the short arm of chromosome 6 (in 6p25.3p24.3) Methods: This case report was approved by the Ethics and Research Committee of the institution. For its preparation, the exam data provided by the patient's family were added from prenatal to early childhood and the discussion with professionals related to the case. Results: B.A.G., a two-year-old female child, the only daughter of non-consanguineous par-ents, no family history of similar diseases. She was born by premature cesarean section (GA: 35 weeks), presenting Dandy-Walker malformation, Fallot tetralogy, head circumference in the 97th percentile, and syndromic facies, with hypertelorism, low implantation of the ears, and opacity of both lenses. Conclusion: Deletions on chromosome 6 are a very rare genetic alteration. Until 2004, there were only 43 cases in the medical literature, excluding ring chromosome 6 anomalie31. Regarding the terminal deletions of the short arm, this case specifically - 6p24pter - was associated with developmental delay, brain malformations, abnormalities in the anterior chamber of the eye, hearing loss, and abnormalities in the ear, micrognathia, and heart diseases (AU)

Introdução: As síndromes de deleção são eventos raros na prática clínica. A deleção cromossômica ocorre quando segmentos de informação genética são perdidos em um ou mais cromossomos. A ausência de alguns genes implica em fenótipos variados, cuja explicação detalhada ainda não está totalmente elucidada. Objetivo: Relatar o caso de uma criança com deleção de segmento terminal de 8,9 Mb do braço curto do cromossomo 6 (em 6p25.3p24.3) Métodos: Esse relato de caso foi aprovado pelo Comitê de Ética e Pesquisa da Instituição. Para sua elaboração, foram adicionados os dados de exames fornecidos pela família do paciente desde o pré-natal até a primeira infância e a discussão com profissionais relacionados ao caso. Descrição do Caso: B.A.G., criança de dois anos, sexo femi-nino, filha única de pais não consanguíneos, sem antecedentes na família de doenças similares. Nasceu por cesárea prematura (IG 35 semanas), apresentando Síndrome de Dandy-Walker, tetralogia de Fallot, perímetro cefálico no percentil 97 e fácie sindrômica, com hipertelorismo, baixa implantação das orelhas e opacidades do cristalino bi-lateralmente. Conclusão: As deleções no cromossomo 6 são alterações genéticas de grande raridade. Até 2004, existiam apenas 43 casos na literatura médica, excluindo a anomalia do cromossomo 6 em anal 31. No que se refere às deleções terminais do braço curto, a do caso em questão - 6p24-pter - foram associadas o atraso no desenvol-vimento, malformações cerebrais, anormalidades na câmara anterior do olho, perda auditiva, anormalidades no ouvido, micrognatia e cardiopatias (AU)

Comparación de resultados inmediatos y a mediano plazo de la anastomosis de Blalock-Taussig versus la colocación de stent en tracto de salida de ventrículo derecho en neonatos sintomáticos con tetralogía de Fallot / Comparison of immediate and mid-term outcomes of Blalock-Taussig shunt versus right ventricular outflow tract stenting in symptomatic neonates with tetralogy of Fallot

RESUMEN Introducción: El manejo inicial de neonatos con tetralogía de Fallot (TF), con síntomas asociados a una anatomía desfavorable y un flujo vascular pulmonar significativamente reducido es controversial, y un desafío clínico. Objetivo: Describir la evolución clínica y comparar el crecimiento de ramas pulmonares en neonatos con TF sintomáticos ingresados al Departamento de Cardiología del Hospital de Niños de Córdoba, desde marzo de 2011 hasta marzo de 2021, que recibieron anastomosis de Blalock-Taussig modificada (aBTm) versus colocación de stent en tracto de salida de ventrículo derecho (sTSVD). Material y métodos: Estudio retrospectivo, observacional. Se identificaron 113 pacientes con TF; 20 de ellos (18%) fueron neonatos sintomáticos y requirieron paliación inicial. Las variables categóricas se expresan como porcentaje; las continuas como mediana y rango intercuartilo (RIC). Un valor de p <0,05 se consideró significativo. Resultados: De los 20 pacientes incluidos en el estudio, 11 (55%) constituyen el grupo aBTm y 9 (45%) el grupo sTSVD. En el grupo aBTm la rama pulmonar derecha (RPD) pre paliación tenía un score Z -3 (RIC 4,20), que aumentó a -1,6 (RIC 1,56) (p = 0,11) post intervención; y la rama pulmonar izquierda (RPI) un score Z -2,5 (RIC 4,8) que se incrementó a -1,80 (RIC 2,36) (p = 0,44). En el grupo sTSVD la RPD pre paliación tuvo un score Z -3,45 (RIC 3,83) que aumentó a - 2,5 (RIC 3,58) (p = 0,021) y la RPI un score Z -4,10 (RIC 2,51) que se incrementó a -2,00 (RIC 3,75) (p = 0,011). La saturación de O2 (SO2) pre intervención fue 75% (RIC 6), y aumentó a 87% (RIC 9) en el grupo aBTm (p = 0,005); e inicialmente fue 75% (RIC 16) y aumentó a 91% (RIC 13) en el grupo sTSVD (p = 0,008). La mediana de estadía hospitalaria post procedimiento fue 10 días (RIC 11) en el grupo aBTm, y 6 (RIC 2) en el grupo sTSVD (p= 0,095). Conclusiones: En neonatos con TF sintomáticos, ambas estrategias paliativas mejoran la condición clínica. En los que recibieron sTSVD, se objetivó un crecimiento mayor de las ramas pulmonares. Mayor número de casos y seguimiento más largo serán necesarios para confirmar estos hallazgos.

ABSTRACT Background: The initial management of neonate patients with tetralogy of Fallot (TOF) associated with an unfavorable anatomy and significantly reduced pulmonary vascular flow is controversial and continues to be a clinical challenge. Objective: The aim of this study was to describe the clinical evolution and to compare pulmonary artery branch development in symptomatic neonatal TOF patients who received a modified Blalock Taussig shunt (mBT) versus right ventricular outflow tract stent placement (RVOTs) at the Department of Cardiology, Hospital de Niños de Córdoba, between March 2011 and March 2021. Methods: A retrospective, observational study identified 113 patients with TOF, 20 of which (18%) were symptomatic neonates requqiring initial palliative intervention. Categorical variables are expressed as percentage and continuous variables as median and interquartile range (IQR). A p value <0.05 was considered significant. Results: Among the 20 patients included in the study, 11 (55%) formed the mBT group and 9 (45%) the RVOTs group. In the mBT group, pre-palliative procedure right pulmonary artery (RPA) Z score was -3 (IQR 4.20) and increased to -1.6 (IQR 1.56) (p = 0.11) and left pulmonary artery (LPA) Z score of -2.5 (IQR 4.8) increased to -1.80 (IQR 2.36) (p = 0.44). In the RVOTs group, RPA Z score prior to palliative intervention was -3.45 (IQR 3.83) and increased to -2.5 (IQR 3.58) (p = 0.021) and LPA Z score of -4.10 (IQR 2.51) to -2.00 (IQR 3.75) (p = 0.011). Pre-intervention peripheral O2 saturation of 75% (IQR 6) increased to 87% (IQR 9) in the mBT group (p= 0.005) and from initially 75% (IQR 16) to 91% (IQR 13) in the RVOTs group (p= 0.008). Mean hospital stay after the procedure was 10 days (IQR 11) in the mBT group and 6 days (IQR 2) in the RVOTs group (p= 0.095). Conclusions: In symptomatic neonates with TOF, both palliative strategies improved the clinical condition. In patients who received RVOTs, there was greater development of pulmonary artery branches. A larger number of cases and longer-term follow-up will be necessary to confirm these findings.

Dental care of hospitalized pediatric patient with tetralogy of Fallot: a case report / Atendimento odontológico hospitalar de paciente pediátrico com tetralogia de Fallot: relato de caso

ABSTRACT Tetralogy of Fallot is the most prevalent cyanotic congenital heart disease and it has a high mortality rate. The aim of this article was to provide a clinical case, describing the dental treatment of an infant patient with tetralogy of Fallot done at a hospital. The patient was a 7-year-old male, lived in a rural area with no previous diagnosis of this cardiopathy when he was attended to by a multidisciplinary team at University Hospital Ana Bezerra, at Santa Cruz, Northern Rio Grande, Brazil. After his medical appointment, the patient received a visit from the dental resident in Mother-Infant Health in his hospital room. During the dental exam, multiple carious lesions were found and there was an urgent need to reduce the risk of dental infection before the patient underwent heart surgery. The treatment started with a preventive approach, including oral hygiene instruction and behavior management. The treatment was completed using the atraumatic restorative technique, and a root tip was extracted. Antibiotic prophylaxis was administered before the extraction to minimize the risk of infectious endocarditis. After the dental treatment, the multidisciplinary team referred the patient for surgery to address the tetralogy of Fallot. The integration between the multidisciplinary residency and the medical team was important to reduce the risks of infectious endocarditis during the dental treatment, aiming to provide integral care to this patient.

RESUMO A tetralogia de Fallot é a cardiopatia cianótica congênita mais prevalente, e apresenta alta mortalidade. O objetivo do presente artigo foi descrever um caso clínico de atendimento odontológico de paciente infantil com tetralogia de Fallot em ambiente hospitalar. O paciente de 7 anos de idade, sexo masculino, morador da zona rural, não possuía o diagnóstico da cardiopatia quando buscou o serviço e foi atendido pela equipe multidisciplinar do Hospital Universitário Ana Bezerra, em Santa Cruz, Rio Grande do Norte, Brasil. O paciente, após atendimento médico, recebeu no leito da enfermaria do hospital a visita do cirurgião-dentista residente na Residência Multiprofissional em Saúde Materno-Infantil. Após avaliação bucal, verificou-se múltiplas lesões de cárie, e necessidade de tratamento odontológico urgente para redução de risco do foco infeccioso, previamente ao procedimento cirúrgico da cardiopatia. O tratamento iniciou pela abordagem preventiva, com orientações de higiene oral e condicionamento psicológico, e em seguida foi feito tratamento restaurador, pela técnica restauradora atraumática e extração de um fragmento radicular. A profilaxia antibiótica foi realizada antes da extração, para minimizar o risco de endocardite bacteriana. Após o atendimento odontológico, o paciente foi encaminhado pela equipe multidisciplinar para a abordagem cirúrgica da tetralogia de Fallot. A integração da residência multiprofissional com a equipe médica foi importante para a redução de riscos de endocardite bacteriana durante os procedimentos odontológicos, visando uma atenção integral ao paciente.

Comparative study on the growth of pulmonary artery and left ventricle between two kinds of surgical repair for tetralogy of Fallot / 中华胸心血管外科杂志

Objective:To compare the growth speed of pulmonary artery and left ventricle after the repair of tetralogy of Fallot(TOF) with valve-sparing and transannular patch.Methods:The clinical data of children with tetralogy of Fallot admitted to our hospital from January 2015 to October 2020 were reviewed. According to the way of relieving right ventricular outflow tract stenosis, they were divided into two groups: valve-sparing and transannular patch. Independent sample t test or non- parametric test was used to compare the pulmonary artery and left ventricular growth indexes before operation and at the last follow-up between the two groups. The paired t test was used to compare preoperative and postoperative indexes. Results:A total of 104 children with tetralogy of Fallot, including 58 males and 46 females, had surgery at a median age and weight of 6.7(4.1, 10.3) months and 7.0(5.8, 8.4) kg, respectively. The preoperative Nakata index, McGoon ratio, pulmonary artery Z-score, left ventricular end diastolic volume(LVEDV) index and Z-score in valve-sparing were higher than those in transannular patch( P=0.001, 0.000, 0.003, 0.000, 0.000). At the last follow-up, the Z-scores of pulmonary arteries in both groups were greater than those before operation( P=0.016, 0.000), the LVEDV Z-score in transannular patch was greater than that before surgery( P=0.000), while the LVEDV Z-score of valve-sparing was not significantly different from that before operation( P=0.581), there was no significant difference in pulmonary artery Z-score and LVEDV Z-score between two groups( P=0.468, 0.884). The difference between the last follow-up and preoperative of pulmonary artery Z-score and LVEDV Z-score in valve-sparing was smaller than that in transannular patch( P=0.000, 0.000). Conclusion:Compared with valve-sparing, the pulmonary artery and left ventricle grow faster in transannular patch during the early stage after TOF repair.

Prenatal assessment of the cardiovascular structure and brain development of fetuses with tetralogy of Fallot on fetal MRI / 中华放射学杂志

Objective:To explore the value of prenatal MRI in assessing the cardiovascular structure and brain development of fetuses with tetralogy of Fallot (TOF).Methods:From August 2011 to April 2021, 30 fetuses of TOF with gestational age (GA) 18-33 (25±3) weeks were retrospectively enrolled in Shanghai Children′s Medical Center, School of Medicine, Shanghai Jiao Tong University. Sixty normal fetuses were selected with matched GA of TOF fetuses as control group. In 30 fetuses with TOF, the GA of 17 fetuses were less than 25 weeks and of 13 fetuses were more than 25 weeks. The balanced fast field echo sequence MRI was performed to measure the diameter of the aortic arch isthmus (AoI), the main pulmonary artery (MPA) and the ratio was calculated (MPA/AoI). The size of ventricular septal defect (VSD) was measured in TOF group. The single-shot turbo spin echo sequence MRI was performed to measure fetal brain biparietal diameter (BBD), brain frontal-occipital length (BFOL), skull biparietal diameter (SBD), skull fronto-occipital diameter (SOD) and head circumference (HC). The Pearson analysis was used to evaluate the correlation of the above indicators with GA. The independent sample t test was used to compare the differences in various indicators between TOF and control groups in both GA≤25 and GA>25 weeks. Results:The sizes of VSD in TOF fetuses were (3.5±1.1) mm (GA≤25 weeks) and (4.4±0.6) mm (GA>25 weeks). The AoI, MPA, BBD, BFOL, SBD, SOD, HC were positively associated with GA (TOF group: r=0.80, 0.50, 0.92, 0.93, 0.91, 0.84, 0.91, MPA P=0.005, others all P<0.001; control group: r=0.90, 0.87, 0.96, 0.95, 0.93, 0.95, 0.96, all P<0.001). For fetuses with GA≤25 weeks, there were 17 fetuses in TOF group and 34 fetuses in control group, and the AoI in TOF group was larger than that in control group ( t=10.00, P<0.001), the MPA, MPA/AoI, BFOL were smaller than those in control group (all P<0.05). No statistical significant differences of BBD, SBD, SOD, HC were found between the groups (all P>0.05), For fetuses with GA>25, there were 13 fetuses in TOF group and 26 fetuses in control group, and the AoI in TOF group was larger than that in control group ( t=3.36, P=0.002) and MPA, MPA/AoI, BBD, BFOL, SOD, HC were smaller than those in control group (all P<0.05). No statistically significant difference of SBD was found between groups ( P=0.068). Conclusions:MRI is feasible to measure the cardiovascular structure and the brain development of fetuses with TOF. Fetuses with TOF have varying degrees of VSD, MPA stenosis and AoI dilation. An altered brain growth of fetuses with TOF appears in the second trimester of pregnancy.

Medium-term follow-up of percutaneous pulmonary valve implantation using the Venus-P self-expanding valve / 中华实用儿科临床杂志

Objective:To evaluate the medium-term clinical and hemodynamic outcomes of percutaneous pulmonary valve implantation (PPVI) using a domestic Venus-P self-expanding valve in the treatment of severe pulmonary regurgitation after Tetralogy of Fallot (TOF).Methods:Retrospective study.From December 2017 to December 2020, 13 TOF patients with (17.8±4.7) years old and (50.2±12.3) kg underwent PPVI using the Venus-P self-expanding valve in the Department of Children′s Heart Center, Zhengzhou University People′s Hospital were recruited.The mean valve size was (31.9±3.1) mm.All patients received the transannular patch surgery and developed severe pulmonary regurgitation.After PPVI, 13 patients were followed up for at least 12 months.The operation-related complications, improvement of valve and heart function and the durability and reintervention of the Venus-P self-expanding valve were analyzed.The right ventricular end-diastolic volume index (RVEDVi) before and after operation was compared by the paired t-test, and the New York Heart Association (NYHA) class was compared by the paired Wilcoxon signed rank sum test. Results:PPVI was successfully performed in all 13 patients without death.At 6 months post-PPVI, cardiac magnetic resonance imaging findings showed that RVEDVi was significantly reduced[(145.7±9.6) mL/m 2vs.(100.2±12.2) mL/m 2, P<0.05], and the NYHA class was significantly improved ( P<0.05). One patient presented moderate pulmonary valve regurgitation at 12 months postoperatively.No vegetation was found on echocardiography, and blood culture was negative in this case.Six patients did not have postoperative pulmonary valve regurgitation, and the remaining presented mild or less pulmonary regurgitation.One patient had sudden ventricular tachycardia on the 6 th day postoperatively, which was converted to sinus rhythm after synchronous electrocardiography.Only one case underwent appendectomy 7 months after operation due to acute appendicitis, and the remaining did not require valve-related reintervention after implantation.During the follow-up for (22.8±8.0) months, no patients had perivalve leakage, stent migration and rupture.Complications like embolization and coronary artery compression were not reported. Conclusions:PPVI using the Venus-P self-expanding valve is safe and effective in patients with severe pulmonary valve regurgitation after TOF surgery, showing an acceptable medium-term follow-up outcome.Studies with a large sample size and long follow-up period are still needed to validate our findings.

Hand-sewn expanded polytetrafluoroethylene valved conduit for right ventricular outflow tract reconstruction / 中南大学学报(医学版)

OBJECTIVES@#Due to the lack of large-sized pulmonary valved conduit products in clinical practice, hand-sewn expanded polytetrafluoroethylene (ePTFE) valved conduit has been used for right ventricular outflow tract (RVOT) reconstruction in many heart centers around the world. This study aims to summarize the early results of the ePTFE valved conduit and the sewing technology of the conduit in combination with the latest progress, and to provide a reference for the application of ePTFE valved conduit.@*METHODS@#A total of 21 patients using ePTFE valved conduit for RVOT reconstruction in the Second Xiangya Hospital, Central South University from October 2018 to October 2020 were prospectively enrolled in this study. The age at the implantation of the conduit was 4.3 to 43.8 (median 15.1) years old, with weight of (38.9±4.1) kg. In this cohort, 14 patients underwent re-reconstruction of RVOT, including 12 patients with pulmonary regurgitation at 6.3 to 31.0 (median 13.8) years after tetralogy of Fallot (TOF) repair, and 2 patients with failed bovine jugular vein conduit (BJVC). Seven patients underwent Ross operations. Among them, 3 were for aortic valve stenosis, 2 were for aortic regurgitation, and 2 were for both stenosis and regurgitation. The ePTFE valved conduits were standard hand-sewn during the surgery. The 3 leaflets were equal in size with arc-shaped lower edge of the valve sinus. The free edge of the valve leaflets was straight with the length of about 1 mm longer than the diameter. The height of the valve sinus was 4/5 of the diameter. The junction of the valve leaflet was 3/4 of the height of the sinus. The designed leaflets were then continuous non-penetrating sutured into the inner surface of Gore-Tex vessel to make a valved conduit. Valved conduits with diameter of 18, 20, and 22 mm were used in 2, 9, and 10 cases, respectively. The surgical results, postoperative recovery time, and serious complications were summarized, and the changes of postoperative cardiac function status and hemodynamic status of the conduits were investigated.@*RESULTS@#During the implantation of ePTFE valved conduit for RVOT reconstruction, 2 patients underwent mechanical mitral valve replacement with Ross operation, 2 patients with pulmonary regurgitation with repaired TOF underwent left and right pulmonary artery angioplasty, and 1 patient with failed BJVC underwent tricuspid valvuloplasty. The cardiopulmonary bypassing time for patients underwent re-reconstruction of RVOT was (130.9±16.9) min, with aorta clamping for 1 patient to repair the residual defect of the ventricular septum. The cardiopulmonary bypassing and aorta clamping time for Ross operation were (242.7±20.6) min and (145.6±10.5) min, respectively. The duration of postoperative ventilator assistance, intensive care unit stay, and hospital stay were 3.5 h to 7.7 d (median 17.1 h),11.2 h to 29.5 d (median 1.9 d), and 6.0 to 56.0 (median 13.0) d, respectively. All patients survived after discharge from hospital. The follow-up rate after discharge was 100% with median time at 15.0 (13.0 to 39.0) months. No death happened during the follow-up. One patient underwent stent implantation due to right coronary stenosis 2 months after Ross operation. One patient underwent balloon dilation due to right pulmonary artery ostium stenosis 1 year after re-reconstruction of RVOT. The cardiac function of all patients recovered to NYHA class I 6 months after operation. The peak pressure gradient across the valve measured by transthoracic echocardiography before discharge was (9.4±2.6) mmHg (1 mmHg=0.133 kPa), and (18.3±6.1) mmHg at the last follow-up. There was no significant increase in the gradient during the follow-up (P=0.134). No patient suffered from mild or more pulmonary regurgitation.@*CONCLUSIONS@#Hand-sewn ePTFE valved conduit is feasible for RVOT reconstruction. It is a promising material for RVOT reconstruction which can effectively meet clinical need. In our experience, the ePTFE valved conduit is simple to manufacture with satisfactory early outcomes.In the application of ePTFE valved conduit, attention should be paid to implantation indications and postoperative anticoagulation management, especially to the preparation details of the valved conduit, to obtain better function and durability of the conduit after implantation.

A Rare Case of Cornelia de Lange Syndrome Achieving Intracardiac Repair of Tetralogy of Fallot Following Ectopic Patent Ductus Arteriosus Banding / 日本心臓血管外科学会雑誌

We describe the case of a 1-year and 7-month-old girl who was born at 36 weeks and 6 days of pregnancy weighing 1,351 g. In addition to the diagnosis of Cornelia de Lange syndrome and Tetralogy of Fallot, we confirmed shunt blood flow from the lesser curvature of the aortic arch to the main pulmonary artery. Thus, we additionally diagnosed ectopic patent ductus arteriosus (PDA). Ultrasonography showed interruption and retrograde flow of the diastolic blood flow in the anterior cerebral artery. Therefore, we made a diagnosis of blood stealing due to an ectopic PDA, and we performed surgical intervention via a median sternotomy at 25 days. When we ligated the shunt blood vessel, the percutaneous oxygen saturation decreased from the high 90% range to the low 70% range, thus we temporarily released the ligation. We narrowed the ectopic PDA so that the percutaneous oxygen saturation could be maintained the high 80% range. Postoperative ultrasonography showed improvement of the pressure waveform in the anterior cerebral artery. After discharge, oxygen demand increased gradually with weight gain, and we performed intracardiac repair using a monocusp valve patch at 1 year and 7 months. We report a rare case of Cornelia de Lange syndrome wherein we achieved intracardiac repair of Tetralogy of Fallot after ectopic PDA banding in the neonatal period.

Concordance of Congenital Heart Defect in Monozygotic Twins in Brazil

Abstract Tetralogy of Fallot (TOF) consists of four cardiac changes: interventricular communication, pulmonary stenosis, aortic dextroposition and right ventricular hypertrophy. The prevalence is 0.1 per 1,000 live births. A primiparous mother with gestational age of 38 weeks came to the emergency. At the time, it was verified in her twin pregnancy that one fetus had TOF, thus a pregnancy interruption was scheduled for the following day. In the neonatal physical examination of both, localized acrocyanosis, regular heart rhythm with the presence of a heart murmur, and good peripheral perfusion were found. The echocardiogram of twin 1 revealed: patent foramen ovale; a wide perimembranous interventricular communication of misalignment, with the aorta riding the septum by 50%; hypertrophied and long infundibulum with pulmonary infundibulo-valvular stenosis, with a maximum systolic gradient of 66 mm Hg; both pulmonary arteries presented dimensions of 0.35 mm; pulmonary valve annulus: 0.56 mm; and patent ductus arteriosus measuring 0.19 mm. The echocardiogram of twin 2 showed: patent foramen ovale; a wide perimembranous interventricular communication of misalignment, with the aorta riding the septum by 50%; hypertrophied infundibulum with stenosis pulmonary infundibulo-valve, with a maximum systolic gradient of 33 mm Hg; reduced confluent pulmonary arteries; right pulmonary artery measuring 0.40 mm and left pulmonary artery measuring 0.55 mm; pulmonary valve annulus measuring 0.72 mm; a closed arterial canal, and mild aortic regurgitation. Tetralogy of Fallot is a multifaceted syndrome with a high prevalence in pediatrics. This case is the first case of congenital heart defect concordance for TOF in monozygotic twins in Brazil.

Clinical Characteristics of Patients with Tetralogy of Fallot who Underwent an Invasive Procedure for Arrhythmias

Introduction: Tetralogy of Fallot (TOF) is a cyanotic congenital heart disease that has an incidence of sudden cardiac death of 0.2% per year, being arrhythmias the main cause of its occurrence. Objective: To compare characteristics of TOF patients referred for electrophysiological study (EPS) against those that were not (No-EPS). Method: Retrospective cohort with 215 patients (57.2% men; age = 29 ± 4) with corrected TOF (median of three years, ranging from 0.33 to 51) that underwent EPS between 2009-2020. The primary outcome was composed of death, implantable cardiac defibrillator (ICD) requirement and hospitalization. Results: Pre-syncope (EPS = 4.7%, No-EPS = 0%; p = 0.004), syncope (EPS = 7.1%, No-EPS = 1.7%; p = 0.056) and palpitations (EPS = 31%, No-EPS = 5.8%; p < 0.001) were symptoms that justified electrophysiological investigation. ICD was implanted in 24% of EPS and 0.6% of No-EPS (p=0.001). Twenty-six percent of the EPS group presented non-sustained ventricular tachycardia, while 0% in No-EPS (p = 0.012). The EPS group had more atrial fibrillation or atrial Flutter (35.7% vs. 6.9%; p < 0.001). The EPS patients had a wider QRS duration than the no-EPS group (171.12 ± 29.52 ms vs. 147 ± 29.77 ms; p < 0.001). Also, 26.2% of EPS performed ablation to correct macroreentrant atrial tachycardias. The incidence of primary outcome (death + ICD requirement + hospitalization) was higher in patients in the EPS group compared to the No-EPS group (p = 0.001). However, the total of seven deaths occurred during the clinical follow-up, but without differences between the groups (EPS = 4.7% vs. No-EPS = 2.8%; p = 0.480). Conclusion: EPS group had a profile of greater risk, more complex heart disease, and a greater occurrence of the primary outcome when compared to the No-EPS group.

Intervenção Paliativa Endovascular no Lactente com Tetralogia de Fallot: Uma Série de Casos / Palliative Endovascular Intervention in Infants with Tetralogy of Fallot: A Case Series

Resumo Fundamento Tendo em vista os casos de lactentes sintomáticos com Tetralogia de Fallot (TF), baixo peso ao nascimento e anatomia complexa, o implante de stent na via de saída do ventrículo direito (VSVD) tem sido indicado alternativamente à cirurgia de Blalock-Taussig (BT). Objetivo Avaliar o implante endovascular de stent na VSVD como abordagem primária no lactente com TF e não candidato à cirurgia de BT, bem como relatar seus resultados a médio prazo e até a retirada do stent na cirurgia corretiva. Métodos Entre outubro de 2015 e abril de 2018, uma série de seis lactentes portadores de TF receberam stents para desobstrução da VSVD. Os parâmetros hemodinâmicos foram comparados em períodos pré e pós-implante. Resultados As medianas de idade e peso no momento do procedimento foram de 146,5 dias e 4,9 kg, respectivamente. O gradiente sistólico máximo diminuiu de 63,5 mmHg para 50,5 mmHg, enquanto o diâmetro dos ramos pulmonares direito e esquerdo aumentou de 3,5 mm para 4,9 mm e 4,3 mm, respectivamente. O índice de Nakata aumentou de 96,5 mm para 108,3 mm; assim como o peso, de 4,9 kg para 5,5 kg. A saturação de oxigênio aumentou de 83,5% para 93%. Houve um caso de migração do stent e dois óbitos, um deles devido à embolização do stent e o outro não teve relação com o procedimento. Conclusões O implante de stent na VSVD como procedimento paliativo na TF se mostra uma alternativa promissora para o tratamento de lactentes com má anatomia e baixo peso ao nascimento.

Abstract Background Endovascular stent placement in the right ventricular outflow tract (RVOT) has been an alternative to Blalock-Taussig (BT) surgery in the treatment of Tetralogy of Fallot (TOF) in symptomatic infants with low birth weight and complex anatomy. Objective To evaluate endovascular stent placement in the RVOT as a primary treatment for infants with TOF who are not candidates for BT surgery, and evaluate medium-term outcomes until the stent is removed during corrective surgery. Methods Six infants with TOF were treated with RVOT stenting from October 2015 to April 2018. Hemodynamic parameters were compared between the pre- and post-stenting periods. Results At the time of stenting, participants had a median age and weight of 146.5 days and 4.9 kg, respectively. Peak systolic gradient decreased from 63.5 mm Hg to 50.5 mm Hg, while the diameter of the left and right pulmonary arteries increased from 3.5 mm to 4.9 mm and 4.3 mm, respectively. The Nakata index increased from 96.5 mm to 108.3 mm; weight increased from 4.9 kg to 5.5 kg; and oxygen saturation, from 83.5% to 93%. There was one case of stent migration and two deaths, one caused by stent embolization and the other unrelated to study procedures. Conclusions RVOT stenting is a promising alternative for the palliative treatment of TOF in infants with low birth weight and complex anatomy.

Rabdomioma cardiaco en relación con tetralogía de Fallot y esclerosis tuberosa / Cardiac rhabdomyoma associated with tetralogy of Fallot and tuberous sclerosis

Resumen Los tumores cardiacos son inhabituales en la edad pediátrica; de ellos, el rabdomioma es el más prevalente. Su curso suele ser benigno. Los casos sintomáticos obedecen a su efecto mecánico obstructivo o a la presencia de arritmias. No es común su asociación con cardiopatías congénitas. Se presenta el caso de un lactante con rabdomiomas múltiples dentro del complejo de esclerosis tuberosa y portador de tetralogía de Fallot con estenosis infundibulovalvular grave, quien presentó crisis de hipoxia que requirió valvuloplastia pulmonar percutánea, la cual se complicó por arritmia supraventricular y tuvo un desenlace fatal.

Abstract Cardiac tumors are rare in pediatrics, and when they occur, rhabdomyomas are the most prevalent. They are generally benign; symptomatic cases are due to mechanical obstruction or arrhythmias. They are not commonly associated with congenital heart disease. We present the case of an infant with multiple rhabdomyomas as part of tuberous sclerosis complex, and tetralogy of Fallot with severe infundibular and valvular stenosis, who presented a hypoxic crisis requiring percutaneous pulmonary valvuloplasty which was complicated by supraventricular arrythmia and had a fatal outcome.

Preoperative Neutrophil-Lymphocyte Ratio Can Predict Outcomes for Patients Undergoing Tetralogy of Fallot Repair

Abstract Introduction: Elevated neutrophil-lymphocyte ratio (NLR) has been associated with poorer outcomes in cyanotic patients undergoing single ventricle palliation. Little is known about this biomarker on patients with tetralogy of Fallot (TOF), the most common cyanotic congenital heart disease. Our objective is to study the impact of preoperative NLR on outcomes of TOF patients undergoing total repair. Methods: This retrospective study included 116 consecutive patients between January 2014 and December 2018. Preoperative NLR was measured from the last complete blood count test before the surgery. Using the cutoff value of 0.80, according to the receiver-operating characteristic (ROC) curve, the sample was divided into two groups (NLR < 0.80 and ≥ 0.80). The primary endpoint was hospital length of stay (LOS). Results: ROC curves showed that higher preoperative NLR was associated with longer hospital LOS, with an area under the curve of 0.801±0.040 (95% confidence interval 0.722 - 0.879; P<0.001). High preoperative NLR was also associated with long intensive care unit (ICU) LOS (P=0.035). Preoperative NLR predicted longer hospital LOS with a sensitivity of 63% and a specificity of 81.4%. Conclusion: Higher preoperative NLR was associated with long ICU and hospital LOS in patients undergoing TOF repair.