Clinical Presentation and Therapy of Anomalies of the Situs.

Situs abnormalities may occur in many and most often more complex congenital cardiac malformations. These conditions are collectively referred to as heterotaxy syndromes, derived from the Greek words "heteros" meaning different and "taxos" meaning orientation or arrangement. Clinically, heterotaxy spectrum encompasses defects in the left-right laterality and arrangement of visceral organs. "Situs" is derived from Latin and is the place where something exists or originates. In human anatomy, situs can be solitus (derived from Latin, meaning "normal"), inversus, or ambiguus. Heterotaxy syndrome represents an intermediate arrangement of internal organs between situs solitus and situs inversus, also known as "situs ambiguous." Situs ambiguus describes an abnormal distribution of major visceral organs within the chest and abdomen. The determination of situs as normal, inversus, or ambiguus is primarily based on the location of unpaired organs such as the spleen, liver, stomach, and intestines. Diagnosis is made by clinical examination, echocardiography, a chest X-ray (position of the heart, stomach, and liver), and ultrasound of the abdominal organs. Situs is considered solitus if the left atrium, spleen, stomach, and the trilobed lung are on the left side and the liver and bilobed lung are on the right side. Situs ambiguus is present if the location of unpaired structures is random or indeterminate even after detailed and appropriate imaging. Situs inversus results when the arrangement of the thoracic and abdominal organs is mirrored. Individuals with situs inversus or situs solitus do not experience fatal dysfunction of their organ systems, as general anatomy and morphology of the abdominothoracic organ-vessel systems are conserved.

Severe COVID-19 acute respiratory distress syndrome in an adult with single-ventricle physiology: a case report.

BACKGROUND: COVID-19 can induce acute respiratory distress syndrome (ARDS). In patients with congenital heart disease, established treatment strategies are often limited due to their unique cardiovascular anatomy and passive pulmonary perfusion. CASE PRESENTATION: We report the first case of an adult with single-ventricle physiology and bidirectional cavopulmonary shunt who suffered from severe COVID-19 ARDS. Treatment strategies were successfully adopted, and pulmonary vascular resistance was reduced, both medically and through prone positioning, leading to a favorable outcome. CONCLUSION: ARDS treatment strategies including ventilatory settings, prone positioning therapy and cannulation techniques for extracorporeal oxygenation must be adopted carefully considering the passive venous return in patients with single-ventricle physiology.

The development of a quality improvement project to improve infection prevention and management in patients with asplenia or hyposplenia.

Asplenia and hyposplenia (a/hyposplenia) are associated with increased morbidity and mortality from complications including infection. The recommended measures to reduce the risks associated with infection include patient education, vaccination and early initiation of antibiotic therapy for fever. Despite these recommendations, there is poor adherence to best practice management of patients with asplenia or hyposplenia (PWA/H). We present the development methodology and pilot data of a quality improvement project that explored whether a programme involving a novel medical alert card together with a patient and healthcare provider educational booklet increased vaccination rates and improved awareness and understanding of the infectious implications of a/hyposplenia. Our aim was to increase the proportion of those appropriately vaccinated and the proportion of patients with proper understanding of fever management by twofold in 18 months. Questionnaires were used locally as a root-cause-analysis to confirm the need for education and evaluate the effectiveness of the programme, as well as patient satisfaction. An interdisciplinary team developed a toolkit composed of a medical alert card and booklet. The toolkit was distributed to PWA/H who presented for a haematology clinic visit at a tertiary care centre. A separate set of questionnaires was then used to evaluate satisfaction and obtain feedback from patients and practitioners receiving the toolkit for the first time. Changes suggested by patients and practitioners with unanimous agreement among study investigators were made to the toolkit. The pilot study showed an increase in vaccination rates and awareness of vaccination status and appropriate fever management. The majority of the patients and practitioners found the information provided by the toolkit helpful. Given these promising single-centre findings, the intervention is being extended to another tertiary care centre with a large red blood cell disorders programme to evaluate its generalisability. The next step will be to expand the scope to paediatric PWA/H.

CRT in a congenital heart disease patient with interventricular dyssynchrony due to an RV conduction delay.

We encountered a unique pattern of cardiac dyssynchrony in a patient with complex congenital heart disease (heterotaxy syndrome) with a biventricular physiology and systemic left ventricle (LV). On speckle tracking echocardiography, dyssynchrony was not detected within the LV, but was noted in an interventricular fashion between the LV and right ventricle (RV). An electrophysiologic study revealed a conduction delay in the subpulmonary RV. Cardiac resynchronization therapy provided reverse cardiac remodeling and an excellent result in our patient by placing the pacing leads around the dyssynchronous lesion.

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.

Neonatal Assessment of Infants with Heterotaxy.

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.

Heterotaxy syndrome with agenesis of dorsal pancreas and diabetes mellitus: case report and review of the literature

SUMMARY Heterotaxy syndrome (HS) is a rare congenital condition with multifactorial heritance, characterized by an abnormal arrangement of thoraco-abdominal organs and vessels. Patients present with multiple cardiac, gastrointestinal, hepatosplenic, pancreatic, renal, neurological and skeletal disorders without any pathognomonic alteration. Despite the described increased risk of diabetes mellitus (DM) in patients with altered pancreatic anatomy, just one case was reported in Korea regarding the association of HS and DM in a 13-year-old girl. Our report refers to a 40-year-old female Brazilian patient with a history of DM and HS with polysplenia and agenesis of dorsal pancreas without cardiac abnormalities. She presented a worsening glycemic control associated with weight gain and signs of insulin resistance. After a proper clinical management of insulin and oral medications, our patient developed an improvement in glycemic control. Although it is a rare disease, HS with polysplenia and pancreatic disorders can be associated with an increased risk of DM. This case highlights the importance of investigating DM in patients with HS, especially those with pancreatic anatomical disorders, for proper clinical management of this rare condition.

Heterotaxy syndrome with agenesis of dorsal pancreas and diabetes mellitus: case report and review of the literature.

Heterotaxy syndrome (HS) is a rare congenital condition with multifactorial heritance, characterized by an abnormal arrangement of thoraco-abdominal organs and vessels. Patients present with multiple cardiac, gastrointestinal, hepatosplenic, pancreatic, renal, neurological and skeletal disorders without any pathognomonic alteration. Despite the described increased risk of diabetes mellitus (DM) in patients with altered pancreatic anatomy, just one case was reported in Korea regarding the association of HS and DM in a 13-year-old girl. Our report refers to a 40-year-old female Brazilian patient with a history of DM and HS with polysplenia and agenesis of dorsal pancreas without cardiac abnormalities. She presented a worsening glycemic control associated with weight gain and signs of insulin resistance. After a proper clinical management of insulin and oral medications, our patient developed an improvement in glycemic control. Although it is a rare disease, HS with polysplenia and pancreatic disorders can be associated with an increased risk of DM. This case highlights the importance of investigating DM in patients with HS, especially those with pancreatic anatomical disorders, for proper clinical management of this rare condition.

Bacteremia in Patients with Heterotaxy: A Review and Implications for Management.

Heterotaxy (HTX) is a laterality defect resulting in abnormal arrangement of the thoracic and abdominal organs across the right-left axis, and is associated with multiple anatomic and physiologic disruptions. HTX often occurs in association with complex congenital heart disease. Splenic abnormalities are also common and convey an increased risk of bacteremia (bacteremia) with a high associated mortality. We performed a systematic review of the literature studying the risk of infection in HTX patients and strategies that can be utilized to prevent such infections. Studies were identified for inclusion using PubMed, EMBASE, and OVID, as well as hand search of references from previously identified papers. Published studies specifically investigating bacteremia in HTX were identified and included as long as they were in English. Data were extracted by two separate authors independently with review of any findings that differed between the two authors. There were 42 documented cases of bacteremia in 32 patients. Approximately, 79% of these had absence of a spleen. The average age of bacteremia was 17 months. HTX patients are at high risk for bacteremia leading to mortality, regardless of anatomic splenic type. We propose strategies for the evaluation of splenic function in HTX patients, and review management practices to reduce the impact of infection risk in the HTX population.

Acute Myocardial Infarction in Adult Congenital Patients with Bodily Isomerism.

INTRODUCTION: Children born with congenital malformations of the heart are increasingly surviving into adulthood. This population of patients possesses lesion-specific complication risks while still being at risk for common illnesses. Bodily isomerism or heterotaxy, is a unique clinical entity associated with congenital malformations of the heart which further increases the risk for future cardiovascular complications. We aimed to investigate the frequency of myocardial infarction in adults with bodily isomerism. METHODS: We utilized the 2012 iteration of the Nationwide Inpatient Sample to identify adult inpatient admissions associated with acute myocardial infarction in patients with isomerism. Data regarding demographics, comorbidities and various procedures were collected and compared between those with and without isomerism. RESULTS: A total of 6,907,109 admissions were analyzed with a total of 172,394 admissions being associated with an initial encounter for acute myocardial infarction. The frequency of myocardial infarction did not differ between those with and without isomerism and was roughly 2% in both groups. Similarly, the number of procedures and in-hospital mortality did not differ between the two groups. CONCLUSIONS: The frequency and short-term prognosis of acute myocardial infarction is similar in patients with and without isomerism.

Abnormalities of Fetal Situs: An Overview and Literature Review.

The incidence of congenital heart disease is most commonly reported in 8 per 1000 live births. Situs anomalies are among the least common forms of congenital heart disease. This study defines situs and describes the variations of fetal situs anomalies. Situs refers to the arrangement of the viscera, atria, and vessels within the body. Situs solitus describes the normal arrangement; situs inversus describes inverted arrangement of the viscera and atria; and situs ambiguous (also referred to as heterotaxy) describes disturbances in arrangements that can neither be identified as solitus nor inversus. This review will concentrate on heterotaxy, as it is the most complicated situs abnormality to define, classify, and study. Prognosis of heterotaxy is variable but most correlated with cardiac anatomy. Management is concentrated on numerous cardiac operations and requires a multidisciplinary approach to address coexisting congenital anomalies.

Impact of Era, Type of Isomerism, and Ventricular Morphology on Survival in Heterotaxy: Implications for Therapeutic Management.

BACKGROUND: Heterotaxy has been demonstrated to reduce survival. There are several different subgroups of patients, however, and no single study has had a large number of patients and analyzed survival across the different subgroups such as patients born in different eras, patients with right and left isomerism, and patients with biventricular or functionally univentricular hearts. This study pools previously reported data from Kaplan-Meier curves and performs such subgroup analysis. METHODS: A systematic review of the literature was performed to identify studies reporting survival of patients with the so-called "heterotaxy" by means of Kaplan-Meier survival curves. Data were extracted from these survival curves and then pooled together. A polynomial regression was then used to generate a pooled survival curve. This was done for all patients, those born in a more recent era, those with right and left isomerism, and those with biventricular or functionally univentricular hearts. RESULTS: Those born in the more recent era (after 2000) had increased survival compared to the overall cohort. Those with left isomerism tended to have a survival benefit compared to those with right isomerism until about 16 years of age, beyond which those with right isomerism developed a survival benefit. Those with biventricular hearts had a survival benefit compared to those with left isomerism. CONCLUSION: Survival in the so-called heterotaxy syndrome is based on several factors, which include era of birth, sidedness of isomerism, and whether the heart is biventricular or functionally univentricular.

Cardiac and Non-Cardiac Abnormalities in Heterotaxy Syndrome.

Thoraco-abdominal viscera have unique morphological asymmetry, unlike the body's external organs. Heterotaxy syndrome is a disorder in which there is a loss of normal left to right asymmetry of thoraco-abdominal viscera and their naturally proscribed spatial relationship. It has multiple anatomical alterations, culminating into physiological and hemodynamic consequences. It is divided into two groups on the basis of morphology of the two atrial appendages. These subgroups are - 1) Isomerism of right atrial appendage (asplenia syndrome); 2) Isomerism of left atrial appendage (polysplenia syndrome); Patients from group I, usually have severe cardiac malformations and present early. They may have duct dependent lesions and eventually may undergo Fontan surgery. However, extracardiac anomalies are more common in group II. All the patients must be evaluated in detail to rule out anomalies like gut-malrotation. Patients must be provided with special care for their susceptibility to infection due to absence of spleen or presence of splenic malfunction. Majority of these patients may have genetic link and may present in families. Hence, genetic evaluation is necessary before assuming long term outcome.

An adult case of polysplenia syndrome associated with sinus node dysfunction, dextrocardia, and systemic venous anomalies.

A 54-year-old woman was referred to our hospital for symptomatic sinus bradyarrhythmia with a sinus pause of 8 seconds. She was diagnosed with dextrocardia during childhood and discovered to have heterotaxy syndrome when she had an appendectomy during her teenager years. Chest and abdominal examinations by computed tomography showed multiple spleens located on the right side and abnormal drainages of the superior and inferior vena cava. Left isomerism was diagnosed by bilaterally bilobed lungs. Because of a patent bilateral superior vena cava, pacemaker leads were implanted using the right cephalic vein approach. Her fainting symptoms disappeared after pacemaker implantation.

Left-sided liver and right sided Polysplenia: a 77-year-old patient with hetrotaxy syndrome.

Hetrotaxy syndrome is defined as an abnormality where the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. Although it is a known condition among physicians taking care of pediatric patients, it is rarely seen in adult day-to-day medicine and most physicians involved in care of adult patients are unaware of it. It is important to recognize this anomaly based on clinical findings,due to its reported association with various medical conditions. We report a case of a 77-year-old patient diagnosed with Hetrotaxy syndrome.

Heterotaxy syndrome: impact of ventricular morphology on resource utilization.

Patients with heterotaxy syndrome (HS) have significant cardiac and extracardiac anomalies that impact outcome. To improve the management of this complex patient population, we performed a comprehensive analysis of their anatomic and clinical features along with an evaluation of resource utilization data. The objectives were to describe anatomic and clinical features of patients with HS syndrome treated at a single center from 1992 to 2011 focusing on the impact of ventricular morphology (univentricular [UV] vs. biventricular [BV]) on clinical outcomes and resource utilization. Clinical and echocardiographic data from patients with HS were abstracted from medical records. Health care costs were indexed to inflation. Seventy-eight patients were identified with HS ranging in age from 1 day to 29 years old. UV morphology was present in 46 patients (59 %), most commonly with right-ventricular dominance (36 of 46). The presence of extra cardiac anomalies did not differ between the UV and BV groups (82 vs. 78 %) nor did morbidities, such as need for enteral tube feedings (47 vs. 25 %) or pacemaker placement (24 vs. 25 %). Mortality was 28 % in the entire cohort: 39 % in univentricuar patients versus 10.5 % in those with biventricular anatomy. Hospital length of stay for medical illnesses was similar in both groups, but length of stay after surgery was significantly longer in UV than BV patients. Among survivors, UV patients had greater median hospital costs (TeX 67,732, p < 0.001), but when this was adjusted for mortality and variable follow-up, there were no differences in health care costs within the first year of life. Significant health care dollars are used to manage children with HS, the majority of which involve expenses related to surgical care. Although patients with biventricular morphology have better survival, morbidity and resource utilization are similar to those for UV patients especially within the first year of life.