RESUMEN
Polysplenia syndrome (PSS) is a rare congenital disease that associates multiple spleens to other malformations, most frequently cardiac, vascular, visceral, and biliary malformations. Most patients with PSS die in the early neonatal period because the disease is often accompanied by serve cardiac and biliary abnormalities. However, some patients have only mild cardiovascular malformations or anomalies in the abdominal organs, which are typically diagnosed incidentally in adulthood. We report the case of a 54-year-old woman who consulted for chronic atypical diffuse abdominal pain. The clinical examination was normal. Abdominal computed tomography showed a total of 5 spleens with vascular and pancreatic malformations as part of polysplenia syndrome. Symptomatic treatment was instituted with good evolution. No specific therapeutic indication was indicated in our case discovered incidentally in adulthood.
Asunto(s)
Síndrome de Heterotaxia , Malformaciones Vasculares , Femenino , Recién Nacido , Humanos , Adulto , Persona de Mediana Edad , Síndrome de Heterotaxia/diagnóstico , Páncreas/diagnóstico por imagen , Abdomen , Malformaciones Vasculares/complicaciones , Malformaciones Vasculares/diagnósticoRESUMEN
Extensive screening in a newborn with prenatal suspicion of VACTERL syndrome identified an anomalous origin of the left pulmonary artery from the descending aorta with an arterial duct and left aortic arch, and normal intra-cardiac anatomy. Other anatomical anomalies suggested heterotaxy syndrome. At one-month-old, re-implantation of the 3.5 mm left pulmonary artery was performed by direct tension-low anastomosis. Post-operative course was complicated by severe left pulmonary atelectasis, and the patient died 20 days later.
Asunto(s)
Conducto Arterial , Síndrome de Heterotaxia , Aorta Torácica/diagnóstico por imagen , Aorta Torácica/cirugía , Femenino , Síndrome de Heterotaxia/diagnóstico , Síndrome de Heterotaxia/diagnóstico por imagen , Humanos , Lactante , Recién Nacido , Pulmón , Embarazo , Arteria Pulmonar/diagnóstico por imagenRESUMEN
Case report is devoted to successful pancreatectomy for cancer of terminal part of common bile duct in a patient with heterotaxy syndrome. The main difficulties during dissection of pancreaticoduodenal complex arose due to anatomical disorientation and the lack of standard topographic and anatomical landmarks. Preoperative computed tomography with assessment of visceral vessel anatomy is essential in all patients with biliopancreaticoduodenal tumors. If heterotaxy syndrome is suspected, additional examination is required to detect other potential abnormalities and prepare for unusual situation.
Asunto(s)
Neoplasias del Conducto Colédoco , Síndrome de Heterotaxia , Pancreaticoduodenectomía , Conducto Colédoco/irrigación sanguínea , Conducto Colédoco/diagnóstico por imagen , Conducto Colédoco/cirugía , Neoplasias del Conducto Colédoco/complicaciones , Neoplasias del Conducto Colédoco/diagnóstico por imagen , Neoplasias del Conducto Colédoco/cirugía , Disección , Duodeno/irrigación sanguínea , Duodeno/diagnóstico por imagen , Duodeno/cirugía , Síndrome de Heterotaxia/complicaciones , Síndrome de Heterotaxia/diagnóstico , Síndrome de Heterotaxia/diagnóstico por imagen , Humanos , Páncreas/irrigación sanguínea , Páncreas/diagnóstico por imagen , Páncreas/cirugía , Cuidados Preoperatorios , Circulación Esplácnica , Tomografía Computarizada por Rayos XRESUMEN
Isomerism, also referred to as "heterotaxy" is a complex set of anatomic and functional perturbations. One of the most obvious manifestations of isomerism is the disturbance of organ arrangement, such that the thoracic organs are no longer asymmetric on the left and right. We report the case of a 14-year-old female in whom exercise-induced dyspnea led to a late diagnosis of left isomerism complicated by Abernethy malformation and portopulmonary hypertension. A comprehensive evaluation revealed two anatomic left lungs and hyparterial bronchi, bilateral left atria, an interrupted inferior caval vein with azygos continuation, multiple spleens, sinus node dysfunction, hepatic hypertrophy with focal nodular hyperplasia, and absence of the portal vein. Pulmonary vasodilator therapy was initiated resulting in clinical improvement. This case exhibits unique features including a late diagnosis of isomerism with Abernethy malformation and portopulmonary hypertension. The patient's presentation, medical workup, and future treatment emphasise the importance of multidisciplinary care in children with complex multisystem disease. We review the multiple cardiac and extracardiac manifestations of isomerism.
Asunto(s)
Síndrome de Heterotaxia , Hipertensión , Malformaciones Vasculares , Adolescente , Niño , Femenino , Síndrome de Heterotaxia/complicaciones , Síndrome de Heterotaxia/diagnóstico , Humanos , Isomerismo , Vena PortaRESUMEN
Heterotaxy syndrome with polysplenia is an extremely rare congenital disorder caused by a disruption in the embryonic development that results in an abnormal arrangement of the abdominal and thoracic organs. We present the case of a 59-year-old female patient with invasive ductal carcinoma of the right breast (luminal A type) and CT findings of heterotaxy syndrome with polysplenia. The most remarkable anomalies identified were a left inferior vena cava draining into the hemiazygos vein, absent inferior vena cava at the thoracic level, and hepatic veins directly draining into the right atrium. Moreover, an atrial septal defect was identified, explaining the pulmonary hypertension of unknown cause previously detected in the patient. The relevance of this case lies in the unusual anatomical abnormalities found and the large patient survival, having in to account the great rate of heterotaxy syndrome mortality in the first years of life.
Asunto(s)
Síndrome de Heterotaxia/diagnóstico , Bazo/anomalías , Neoplasias Óseas/diagnóstico , Neoplasias Óseas/secundario , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/terapia , Carcinoma Ductal de Mama/diagnóstico , Carcinoma Ductal de Mama/terapia , Quimioradioterapia Adyuvante , Medios de Contraste/administración & dosificación , Femenino , Humanos , Hallazgos Incidentales , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/secundario , Mastectomía Segmentaria , Persona de Mediana Edad , Bazo/diagnóstico por imagen , Factores de Tiempo , Tomografía Computarizada por Rayos XRESUMEN
Avoiding cardiopulmonary bypass during palliation of single ventricle has the advantages of minimizing transfusions, pulmonary vascular resistance, and avoiding the inflammatory response from cardiopulmonary bypass. It is however not always straightforward, and the technique may be faced with challenges.
Asunto(s)
Anomalías Múltiples/cirugía , Dextrocardia/cirugía , Procedimiento de Fontan/métodos , Síndrome de Heterotaxia/cirugía , Anomalías Múltiples/diagnóstico , Puente Cardiopulmonar/métodos , Preescolar , Dextrocardia/diagnóstico , Síndrome de Heterotaxia/diagnóstico , Humanos , Masculino , Tomografía Computarizada por Rayos XRESUMEN
Heterotaxy is a generalized term for patients who have an abnormality of laterality that cannot be described as situs inversus. Infants with heterotaxy can have significant anatomic and medical complexity and require personalized, specialized care, including comprehensive anatomic assessment. Common and rare anatomic findings are reviewed by system to help guide a thorough phenotypic evaluation. General care guidelines and considerations unique to this patient population are included. Future directions for this unique patient population, particularly in light of improved neonatal survival, are discussed.
Asunto(s)
Síndrome de Heterotaxia/diagnóstico , Síndrome de Heterotaxia/terapia , Enfermedades Raras/diagnóstico , Enfermedades Raras/terapia , Diagnóstico Diferencial , Humanos , Recién Nacido , Tamizaje NeonatalRESUMEN
Heterotaxy and congenital heart defects associated with pathogenic variants in the PKD1L1 gene (autosomal visceral heterotaxy type 8, MIM 617205) has been reported in only four individuals from three unrelated families. We describe a further family with two affected fetuses and novel compound heterozygous pathogenic variants in PKD1L1. PKD1L1 has been shown to function in the ciliary sensation of nodal flow at the embryo primitive node and in the restriction of NODAL signalling to the left lateral. plate mesoderm, mechanisms involved in the development of laterality in vertebrates. Individuals affected with this autosomal recessive condition have variable thoracic and abdominal situs. Features of CHD and other anomalies vary between and within families.
Asunto(s)
Feto , Síndrome de Heterotaxia/diagnóstico , Síndrome de Heterotaxia/genética , Proteínas de la Membrana/genética , Codón sin Sentido , Femenino , Heterocigoto , Humanos , Masculino , Linaje , Embarazo , Secuenciación del ExomaRESUMEN
A 69-year-old woman had a history of acute pancreatitis. On abdominal computed tomography, the pancreatic body and tail could not be visualized, and the pancreatic head encircled the descending part of the duodenum. On endoscopic retrograde cholangiopancreatography, we could not find the minor papilla. The major papilla was located on the lateral wall of the descending part of the duodenum. The pancreatic duct was short, and the common bile duct was on the lateral side of the duodenum near the hepatic hilum. We diagnosed polysplenia syndrome with annular pancreas and agenesis of the dorsal pancreas. The syndrome includes several congenital anomalies, but there is very little information currently available about this particular syndrome. We report our patient's case and review the pertinent literature.
Asunto(s)
Anomalías Congénitas , Síndrome de Heterotaxia/diagnóstico , Páncreas/anomalías , Enfermedades Pancreáticas , Anciano , Colangiopancreatografia Retrógrada Endoscópica , Femenino , HumanosAsunto(s)
Síndrome de Heterotaxia/diagnóstico , Enfisema Pulmonar/congénito , Enfisema Pulmonar/diagnóstico , Síndrome de Dificultad Respiratoria del Recién Nacido/diagnóstico , Adulto , Femenino , Síndrome de Heterotaxia/diagnóstico por imagen , Humanos , Recién Nacido , Embarazo , Enfisema Pulmonar/diagnóstico por imagen , Síndrome de Dificultad Respiratoria del Recién Nacido/diagnóstico por imagenRESUMEN
Congenital heart diseases (CHDs) are the most common types of birth defects, affecting approximately 1% of live births and remaining the leading cause of mortality. CHD patients often show a higher incidence of heterotaxy syndrome. However, the exact aetiology of CHD and heterotaxy syndrome remains unclear. In this study, targeted sequencing and Sanger sequencing were performed to analyze the exonic regions of 37 primary ciliary dysfunction (PCD)- related candidate genes in 42 CHD patients with heterotaxy syndrome. Variants affecting protein-coding regions were filtered according to databases of known variants and predicted in silico using functional prediction program. Thirty-four potential disease-causing heterozygous variants in 11 genes were identified in the 19 CHD patients with heterotaxy syndrome (45.2%, 19/42). The DNAH11 gene showed the highest mutation rate (16.7%; 14 of 84 alleles) among the CHD patients with heterotaxy. Fisher's exact test revealed a significant association of DNAH11 variants with CHD and heterotaxy (P = 0.0001). In families, six different compound heterozygous variants of DNAH11 were validated in family 1-5031 (p.W802X/p.M282I), family 2-5045 (p.T3460K/p.G4425S), family 3-5065 (p.G447R/p.L1157R), family 4-5130 (p.I2262T/p.D3800H), family 5-5707 (p.S1823fs/p.F2759L/p.R4395X) and family 6-5062 (p.D3610V/p.I243V). These findings suggest that the DNAH11 variants are significantly associated with CHD and heterotaxy syndrome and that compound heterozygous DNAH11 variants may be the common genetic cause of the development of familial CHD and heterotaxy syndrome.
Asunto(s)
Dineínas Axonemales/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Síndrome de Heterotaxia/diagnóstico , Síndrome de Heterotaxia/genética , Alelos , Sustitución de Aminoácidos , Niño , Preescolar , Análisis Mutacional de ADN , Femenino , Genotipo , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Lactante , Masculino , LinajeRESUMEN
OBJECTIVES: Current technology advances in virtual surgery modeling and computational flow dynamics allow preoperative individualized computer-based design of Fontan operation. To determine potential role of those innovations in patients undergoing hepatic vein incorporation (HVI) following Kawashima operation, we retrospectively examined historic cohort of patients who underwent HVI following Kawashima with focus on regression of pulmonary arteriovenous malformations (PAVMs). METHODS: Twenty-two children with single ventricle and interrupted inferior vena cava underwent Kawashima operation (2002-12). Twenty-one (96%) patients had left atrial isomerism and 21 (96%) had undergone prior first-stage palliation. Clinical outcomes were examined. RESULTS: Mean O2 saturation (SaO2) increased from 77% ± 8% to 85% ± 6% ( P = .002) after Kawashima. Fifteen (68%) patients developed PAVMs. Eighteen patients underwent HVI (median age and interval from Kawashima: 4.4 and 3.7 years, respectively). Mean SaO2 prior to HVI was 77% ± 8% and increased to 81% ± 10% at the time of hospital discharge ( P = .250), with five patients requiring home oxygen. On follow-up, mean SaO2 increased to 95% ± 4% ( P < .001). Overall ten-year survival following Kawashima was 94%. CONCLUSIONS: A large number of patients develop PAVMs and subsequent cyanosis after Kawashima operation. Early following HVI, SaO2 is commonly low and insignificantly different from that prior to HVI. Although SaO2 will improve on follow-up in most patients, a number of patients continue to have low saturations, indicating incomplete resolution of PAVMs. Given the heterogeneity of those patients and lack of preoperative predictors for complete PAVM regression, our findings suggest a role for virtual surgery to determine optimal individual procedure design that would provide even distribution of hepatic blood flow to both pulmonary arteries.