Síndrome de la cimitarra en la edad adulta / Scimitar syndrome in adulthood

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Peculiarities of Histological Structure of Pulmonary Veins in Patients with Total Anomalous Pulmonary Venous Drainage as Morphological Substrates Relating to Formation of Postoperative Pulmonary Venous Obstruction.

The histological and immunohistochemical methods were employed to examine the peculiarities of histological structure of pulmonary veins and left atrium of the heart in norm and in various types of total anomalous drainage of pulmonary veins. In contrast to normal pulmonary vein covered with external multiple muscle layers (myocardial sleeve), such sleeve is absent in veins that have no connection with the left atrium irrespective of the type of the defect. In patients with total anomalous pulmonary venous drainage, the structure of left atrium was heterogeneous featuring either the presence or absence of inner angiomural lining in this atrium. The structural peculiarities are important for insight into etiology of the development of postoperative pulmonary venous obstruction in patients with total anomalous pulmonary venous drainage.

Isomerism of the atrial appendages: morphology and terminology.

BACKGROUND: Our aim is to identify the pathognomonic anatomical markers and the best terminology to describe the cardiac malformations associated with absent or multiple spleens, which are known as asplenia or polysplenia syndromes or isomerism. MATERIALS AND METHODS: We have reviewed 65 hearts with isomerism of atrial appendages of the Anatomical Collections of Congenital Heart Disease, Institute of Pathological Anatomy of the University of Padua consisting of 1800 specimens. All the hearts were classified according to sequential segmental classification. RESULTS: The incidence of isomerism was 3.6%. Of the total, 45 hearts with isomerism of right atrial appendages showed bilateral trilobed lungs, short bronchi, and absent spleen. The atrioventricular junction was univentricular in 49% of cases with a common atrioventricular valve in 91%. Pulmonary atresia and double outlet right ventricle were present in 40% and 47% of cases, respectively. Total anomalous pulmonary venous drainage and absent coronary sinus were always present. In 20 hearts with isomerism of left atrial appendages, bilateral bilobed lungs with long bilateral bronchi and multiple spleens were always found. The biventricular atrioventricular connection was present in 65% with a common valve in 30% of the hearts. The ventriculoarterial connection was concordant in 45% of cases, and aortic atresia and pulmonary atresia were both noted in 15% of each. An anomalous symmetric pulmonary venous drainage was observed in 65% of the hearts and interruption of inferior vena cava was found in 75% of cases. CONCLUSIONS: We believe that the appropriate terminology is based on the symmetrical morphology of the atrial appendages. The absence of the coronary sinus and the total anomalous pulmonary venous drainage are the markers of isomerism of the right atrial appendages. Symmetric pulmonary venous drainage and interruption of inferior vena cava are the markers of isomerism of left atrial appendages. In recent years, thanks to the improvement of clinical diagnosis and of surgical techniques these patients have the possibility to survive to adult age.

Clinical outcomes after the endovascular treatments of pulmonary vein stenosis in patients with congenital heart disease.

BACKGROUND: Pulmonary vein stenosis (PVS) is a condition with challenging treatment and leads to severe cardiac failure and pulmonary hypertension. Despite aggressive surgical or catheter-based intervention, the prognosis of PVS is unsatisfactory. This study aimed to assess the prognosis and to establish appropriate treatment strategies. METHODS: We retrospectively reviewed endovascular treatments for PVS (2001-2017) from the clinical database at the Okayama University Hospital. RESULTS: A total of 24 patients underwent PVS associated with total anomalous pulmonary venous connection and 7 patients underwent isolated congenital PVS. In total, 53 stenotic pulmonary veins were subjected to endovascular treatments; 40 of them were stented by hybrid (29) and percutaneous procedures (11) (bare-metal stent, n = 34; drug-eluting stent, n = 9). Stent size of hybrid stenting was larger than percutaneous stenting. Median follow-up duration from the onset of PVS was 24 months (4-134 months). Survival rate was 71 and 49% at 1 and 5 years, respectively. There was no statistically significant difference between stent placement and survival; however, patients who underwent bare-metal stent implantation had statistically better survival than those who underwent drug-eluting stent implantation or balloon angioplasty. Early onset of stenosis, timing of stenting, and small vessel diameter of pulmonary vein before stenting were considered as risk factors for in-stent restenosis. Freedom from re-intervention was 50 and 26% at 1 and 2 years. CONCLUSIONS: To improve survival and stent patency, implantation of large stent is important. However, re-intervention after stenting is also significant to obtain good outcome.

A Novel Mouse Model for Cilia-Associated Cardiovascular Anomalies with a High Penetrance of Total Anomalous Pulmonary Venous Return.

Primary cilia are small organelles projecting from the cell surface of many cell types. They play a crucial role in the regulation of various signaling pathway. In this study, we investigated the importance of cilia for heart development by conditionally deleting intraflagellar transport protein Ift88 using the col3.6-cre mouse. Analysis of col3.6;Ift88 offspring showed a wide spectrum of cardiovascular defects including double outlet right ventricle and atrioventricular septal defects. In addition, we found that in the majority of specimens the pulmonary veins did not properly connect to the developing left atrium. The abnormal connections found resemble those seen in patients with total anomalous pulmonary venous return. Analysis of mutant hearts at early stages of development revealed abnormal development of the dorsal mesocardium, a second heart field-derived structure at the venous pole intrinsically related to the development of the pulmonary veins. Data presented support a crucial role for primary cilia in outflow tract development and atrioventricular septation and their significance for the formation of the second heart field-derived tissues at the venous pole including the dorsal mesocardium. Furthermore, the results of this study indicate that proper formation of the dorsal mesocardium is critically important for the development of the pulmonary veins. Anat Rec, 302:136-145, 2019. © 2018 Wiley Periodicals, Inc.

Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion.

A 15q11.2 microdeletion (BP1-BP2) is associated with congenital heart diseases (CHDs), developmental delay, and epilepsy. This deletion co-occurs with CHD in 20-30% patients, but a familial case of CHD and a 15q11.2 deletion has not been identified. Here we report the first familial (three siblings) case of total anomalous pulmonary venous return associated with 15q11.2 deletion. Array comparative genomic hybridization identified a ~395 kb deletion at 15q11.2 in patient 1. This deletion was confirmed by fluorescence in situ hybridization in patients 1 and 3 and their asymptomatic father. No deleterious mutation was identified by proband-only exome sequencing of patient 1. One healthy sibling and their mother did not carry the deletion. This deletion is often inherited from asymptomatic parents with an estimated low penetrance of 10.4%. Conversely, we observed high penetrance of this deletion, but secondary copy-number variants or pathogenic variants were not detected in this family.

Maternal Obesity as a Risk Factor for the Development of Total Anomalous Pulmonary Venous Connection in Their Offspring.

The incidence of total anomalous pulmonary venous connection (TAPVC) in the Caucasian population is 2.5/100,000 live births (LB), and the incidence in the Hispanic population is 19.8/100,000 LB. Without knowing the exact etiology for the development of congenital heart disease, our objective was to determine the maternal factors associated with the development of TAPVC. METHODS: 55 mother-child binomials with isolated TAPVC (group I) and 152 healthy mother-child binomials (group II) were included. Both groups had no maternal history of addiction, pre-eclampsia, or type 1, 2 or gestational diabetes mellitus. Complete clinical histories were obtained for the women in both groups and perinatal and birth data were recorded. In addition, genealogies across three generations were constructed to determine affected first- or second-degree relatives with complex congenital heart disease. RESULTS: Among the maternal characteristics analyzed, women in group I had a higher number of pregnancies before gestation of the index case (p = <0.05), and the Body Mass Index (BMI) before pregnancy was higher compared to Group II (p < 0.05), with an adjusted risk of OR = 3.6 (p = 0.011). The family history showed a higher prevalence in the group of patients with TAPVC compared to healthy children (p < 0.05). CONCLUSION: Maternal obesity before pregnancy is a risk factor for the development of CATVP in children in the Mexican population.

Intrapulmonary ectopic liver associated with scimitar syndrome.

We report a case of intrapulmonary ectopic liver associated with Scimitar syndrome. A two month old male child who presented with features of congestive cardiac failure underwent extensive cardiac and radiological investigations and was diagnosed with Scimitar syndrome. He was also found to have a mass in the lower lobe of the right lung, the possibilities being either a pulmonary sequestration or a diaphragmatic hernia. As his dyspnea progressively worsened, a right lower lobectomy was performed at the age of two years. Intraoperatively, no connecting pedicle or hernia sac was seen. The resected lung specimen showed a light brown mass enclosed by the lung parenchyma and microscopy showed cords of normal hepatocytes with portal tracts. The hepatocytes were positive for Hep Par1, and bile ducts were CK 7 positive. To the best of our knowledge, this is the first reported case of an intrapulmonary ectopic liver associated with Scimitar syndrome.

Preoperative evaluation of anomalous pulmonary venous connection using dual-source computed tomography: Comparison with echocardiography.

PURPOSE: To evaluate the image features and diagnostic agreement for anomalous pulmonary venous connection (APVC) by dual-source computed tomography (DSCT) before surgery when compared with trans-thoracic echocardiography (TTE). MATERIALS AND METHODS: A total of one hundred and twenty-three patients were enrolled in this study. The associated malformation was analyzed between 39 total anomalous pulmonary venous connections (TAPVC) and 84 partial anomalous pulmonary venous connections (PAPVC). For 75 patients who received surgical treatment, the diagnostic agreement between the surgical findings of DSCT and TTE was evaluated. The dimensions of the four chambers of the heart were also measured by DSCT and TTE. RESULTS: Atrial septal defect is the most common anomaly associated with APVC (86/123, 69.9%), which has a higher incidence in TAPVC compared to that in PAPVC (100% vs. 56.0%, p<0.001). Of 75 operative patients, discrepancies in diagnostic sensitivity existed between DSCT and TTE for different drainage sites, supracardiac (94.4% vs. 82.2%, p=0.001), cardiac (98.7% vs. 91.1%, p=0.089), and infracardiac (100% vs. 57.1%, p=0.096), respectively, and for different venous origins, right superior pulmonary vein (98.4% vs. 87.1%, p=0.871), right inferior pulmonary vein (100% vs. 87.3%, p=0.006), left superior pulmonary vein (100% vs. 93.1%, p=0.246), left inferior pulmonary vein (100% vs. 95.7%, p=0.500), and atypical pulmonary vein (66.7% vs. 44.4%, p=0.011), respectively. Good agreement was obtained between DSCT and TTE for measurements of left atrium, left ventricle, right atrium, and right ventricle sizes (bias 0.3±5.05mm, -0.3±4.50mm, 5.8±14.15mm, and 1.1±5.95mm, respectively). CONCLUSIONS: DSCT can provide optimal and accurate anatomy details for patients with APVC, and serves as a promising accessary imaging modality after TTE to achieve a better and comprehensive preoperative imaging evaluation.

Standardized likelihood ratio test for comparing several log-normal means and confidence interval for the common mean.

Standardized likelihood ratio test (SLRT) for testing the equality of means of several log-normal distributions is proposed. The properties of the SLRT and an available modified likelihood ratio test (MLRT) and a generalized variable (GV) test are evaluated by Monte Carlo simulation and compared. Evaluation studies indicate that the SLRT is accurate even for small samples, whereas the MLRT could be quite liberal for some parameter values, and the GV test is in general conservative and less powerful than the SLRT. Furthermore, a closed-form approximate confidence interval for the common mean of several log-normal distributions is developed using the method of variance estimate recovery, and compared with the generalized confidence interval with respect to coverage probabilities and precision. Simulation studies indicate that the proposed confidence interval is accurate and better than the generalized confidence interval in terms of coverage probabilities. The methods are illustrated using two examples.

[Subtotal cor triatriatum sinister associated with bilateral partial anomalous pulmonary venous return]. / Iki tarafli anormal kismi pulmoner venöz dönüs anomalisi birlikteliginde subtotal kor triatriatum sinister.

Cor triatriatum sinister is a rare congenital cardiac pathology, representing only 0.1% of congenital cardiac anomalies, and often associated with other cardiac defects. In classic cor triatriatum sinister, the pulmonary venous chamber receives all pulmonary veins and drains into the left atrium through a variable-sized orifice. The case of a 4-month-old male patient who had subtotal cor triatriatum sinister associated with right and left upper anomalous pulmonary venous return is presented.

Síndrome de la cimitarra / Scimitar síndrome

El síndrome de la cimitarra consiste en un retorno venoso pulmonar anómalo. En esta patología la vena pulmonar conecta con la vena cava inferior en lugar de la aurícula izquierda. Presentamos el caso de un hombre de 40 años con el diagnóstico reciente de síndrome de la cimitarra. El paciente estaba asintomático desde el punto de vista cardiológico. Tras el cauteloso estudio de cardiología y varias pruebas complementarias, entre ellas ecografías, resonancia nuclear magnética, TAC y radiología de tórax se le diagnosticó la enfermedad (AU)

Scimitar syndrome consists in an anomalous pulmonary venous return. In this pathology the pulmonary vein connects to the inferior vena cava instead of the left atrium. We present the case of a 40-year-old man with scimitar syndrome. The patient had no cardiological clinical symptoms. After a cautious cardiological study and various complementary tests -among them ecography, magnetic resonance imaging, computed tomography and chest X-ray- the diagnosis was achieved (AU)

Repaired tetralogy of Fallot with coexisting unrepaired partial anomalous pulmonary venous connection is associated with diminished right ventricular ejection fraction and more severe right ventricular dilation.

BACKGROUND: There is an established association between tetralogy of Fallot and partial anomalous pulmonary venous connections. This association is important because surgically repaired tetralogy patients have increased risk of right heart failure. We hypothesize that partial anomalous venous connections increase right ventricular volumes and worsen right ventricular failure. MATERIALS AND METHODS: We reviewed cardiac MRI exams performed at a tertiary pediatric hospital from January 2005 to January 2014. We identified patients with repaired tetralogy and unrepaired partial anomalous pulmonary venous connection. We used age- and gender-matched repaired tetralogy patients without partial anomalous pulmonary venous connection as controls. We analyzed the MRI results and surgical course and performed comparative statistics to identify group differences. RESULTS: There were eight patients with repaired tetralogy and unrepaired partial anomalous pulmonary venous connection and 16 controls. In all cases, the partial anomalous pulmonary venous connection was not detected on preoperative echocardiography. There were no significant differences in surgical course and body surface area between the two groups. Repaired tetralogy patients with unrepaired partial anomalous pulmonary venous connection showed significantly higher indexed right ventricular end diastolic volume (149 ± 33 mL/m(2) vs. 118 ± 30 mL/m(2)), right ventricle to left ventricle size ratios (3.1 ± 1.3 vs. 1.9 ± 0.5) and a higher incidence of reduced right ventricular ejection fraction compared to controls (3/8 vs. 0/16). CONCLUSION: Repaired tetralogy of Fallot with unrepaired partial anomalous pulmonary venous connection is associated with reduced right ventricular ejection fraction and more significant right ventricular dilation.

Scimitar vein descending from the right inferior lobe to the inferior vena cava beneath the diaphragm: a rare case.

Scimitar syndrome is a rare anomaly involving a pulmonary vein flowing into the inferior vena cava (scimitar vein) and is commonly associated with lung hypoplasia wherein a scimitar vein drains the entire lung. We report a rare case of a scimitar vein draining only the right inferior lobe found in a 77-year-old male cadaver. In this case, no hypoplastic lung or abnormal lobulation were observed. The scimitar vein drained the inferior lobe of the right lung after piercing the diaphragm and draining into the inferior vena cava. The remaining two right pulmonary veins, draining the superior and middle lobes, terminated into the left atrium. To the best of our knowledge, this is the first report of a scimitar vein during gross anatomical dissection in an adult cadaver. In adults, scimitar veins are often benign, incidental findings, and little is known about them. The present case of a scimitar vein partially draining the lung without lung hypoplasia offers important insights into the formative processes of the pulmonary venous system.

Scimitar syndrome in a case with VACTERL association.

VACTERL association and Scimitar syndrome are rare congenital diseases. In this study, we report on a neonate with prenatal suspicion of VACTERL association and small left-sided cardiac structures, which, only on postnatal angiography, could be revealed to be part of a Scimitar syndrome. As this is the second reported case of VACTERL association and Scimitar syndrome, the presence of Scimitar syndrome should be considered in the prenatal and postnatal evaluation of VACTERL association.