Case Report on Ebstein’s Anomaly with Hemoptysis and Sepsis in Eleven Years Old Girl
Jatin Arora*, Kirti Jain, Usha D.S., Mahesh N.M.
Pharm. D. Intern, KLE College of Pharmacy, 968 FF Ranibagh, Pitampura, Delhi - 110034, India.
*Corresponding Author E-mail: jatinarora1310@gmail.com
ABSTRACT:
Ebstein's anomaly is a rare congenital heart condition, occurring in only 1 to 5 out of every 200,000 live births, accounting for less than 1% of all cases of congenital heart defects. This anomaly is characterized by the downward displacement of the septal leaflet of the tricuspid valve and the presence of an atrialized right ventricle. Our patient, an eleven-year-old girl, initially presented with symptoms such as chest pain, shortness of breath, and hemoptysis (blood vomiting). Upon examination, we identified moderate tricuspid valve regurgitation and observed an enlarged, globe-shaped heart, which led us to diagnose the child with Ebstein's anomaly. Additionally, the presence of Escherichia coli in her blood resulted in sepsis. Given the patient's overall condition, cardiovascular surgery was not considered, and she was instead provided with symptomatic treatment. This case report highlights the possibility of successful pediatric outcomes in complex congenital heart diseases, emphasizing the need for individualized surgical treatment plans.
KEYWORDS: Ebstein anomaly, Escherichia coli, Hemoptysis, Tricuspid valve regurgitation, sepsis.
INTRODUCTION:
Ebstein's anomaly is a rare condition, occurring in only 1 to 5 out of every 200,000 live births, making up less than 1% of all cases of congenital heart defects.1 This anomaly is a specific type of tricuspid valve dysplasia, characterized by the downward displacement of the septal leaflet and the presence of an atrialized right ventricle (RV).2 Ebstein’s anomaly is a special form of tricuspid valve dysplasia, characterized by the downward displacement of septal leaflet and atrialized right ventricle (RV) cardiomyopathy.3 Notably, Ebstein's anomaly is increasingly being diagnosed early in life. Previous research has identified cyanosis and the need for early medical intervention as risk factors for unfavorable outcomes in newborns and young children.4,5,6,7
Structural abnormalities commonly associated with Ebstein's anomaly include atrial septal defects (ASD), patent foramen ovale, pulmonary stenosis or atresia, and ventricular septal defects. It's important to note that Ebstein's anomaly is not limited to issues within the right heart system; approximately 39% of these patients also exhibit myocardial or valvular disorders in the left heart.8
Genetics: In humans, the duplication of chromosome 15q has an impact on the early formation of cardiac structures, including the proper development of the tricuspid valve. Consequently, it is highly probable that the gene situated on the long arm (q) of chromosome 15 plays a role in the development of Ebstein's anomaly.9 Ebstein's anomaly has been identified as one of the outcomes of heterozygous mutations in NKX2.5, along with conditions such as atrioventricular (AV) block, atrial septal defects (ASD), ventricular septal defects, tetralogy of Fallot, double-outlet right ventricle (RV), and various other tricuspid valve abnormalities.10
Clinical manifestation and diagnosis- In the case of Ebstein's anomaly in humans, right bundle branch block is a common occurrence, and this rhythm abnormality has also been observed in animals with Ebstein's anomaly. The arrhythmia is likely attributed to the anatomical features of the atrialized right ventricle (RV). Specifically, there is a region just beyond the His bundle, connected to the Purkinje fibers, where slow conduction occurs and is responsible for the initiation of ventricular tachycardia.11,12
Classification - The Celermajer classification for Ebstein's anomaly was based on echocardiographic assessments, which involved calculating the proportion of the combined area of the right atrium and atrialized right ventricle to that of the functional right ventricle and left heart in a four-chamber view at the end of diastole. This classification system has four grades: Grade 1 corresponds to a ratio of less than 0.5, Grade 2 ranges from 0.5 to 0.99, Grade 3 spans from 1 to 1.49, and Grade 4 signifies a ratio greater than 1.5.13
Management:
Medical Treatment:
Patients who have Ebstein's anomaly without symptoms can be closely monitored. For individuals classified under New York Heart Association heart function Classes I and II, a conservative treatment approach is appropriate. Managing right heart failure involves regulating heart rate and reducing the heart's workload, often achieved through exercise restrictions and specific interventions like a low-sodium diet, oral diuretics, digoxin, and a low-dose angiotensin-converting enzyme inhibitor such as enalapril. In cases of acute exacerbation of right heart failure, the primary therapeutic approach typically includes diuretics, vasodilators, cardiotonic medications, dietary sodium restriction, and abdominal paracentesis. While these measures can effectively alleviate congestive heart failure symptoms, they may not effectively prevent the accumulation of effusions.14
Surgical interventions:
Therefore, the treatment of symptomatic children with Ebstein's anomaly continues to pose difficulties, and there may be a need for additional procedures such as creating systemic-to-pulmonary artery shunts, cavopulmonary shunts, performing radiofrequency ablations for supraventricular arrhythmias related to pre-excitation, and/or employing transcatheter device closure of interatrial shunts either before or after tricuspid valve surgery.15 Surgery is recommended for individuals with Ebstein's anomaly when they exhibit right heart enlargement and a worsening decline in ventricular function.16
In severe cases of Ebstein's anomaly in a newborn, a surgical procedure was conducted. This procedure involved the closure of the tricuspid valve and pulmonary artery, with minimal retention of an atrioventricular communication to relieve right ventricular pressure when closing the tricuspid valve. Additionally, an atriopulmonary artery shunt was constructed during the operation.17
CASE REPORT:
An eleven-year-old girl presented to the Fortis Healthcare emergency department with complaints of breathing difficulties, high fever, and multiple episodes of blood vomiting (hemoptysis) mixed with sputum over the past three days. During the examination, the child appeared unwell, had fever spikes, an elevated pulse rate, and reduced airflow in left lung. There were no signs of clubbing (abnormal nail and finger growth) or cyanosis (bluish skin discoloration). Medical examinations adviced included chest X-rays, electrocardiography, CT pulmonary angiography, and a contrast-enhanced CT scan of the chest.
Figure 1: Chest Radiography of Ebstein Anomaly
Figure 2: Chest Radiography of Normal Heart
As depicted in Figure 1, the chest X-ray revealed an enlarged, globe-shaped heart with increased vascularity, while Figure 2 displayed a normal heart. An echocardiogram revealed characteristics consistent with Ebstein's Anomaly and moderate tricuspid valve regurgitation with septal defects. The CT pulmonary angiography did not indicate any pulmonary embolism, but it did reveal multiple ground glass opacities affecting both upper and lower lung lobes. The downward displacement of the tricuspid valve toward the right ventricle of the heart caused the collapse of the right lower lung lobe, contributing to the hemoptysis. The contrast-enhanced CT of the chest showed mild dilation of the right atrium and smaller-than-normal right ventricles.
Sputum samples sent for acid-fast bacilli smear and Mycobacterium tuberculosis tests showed no growth, but the patient continued to experience episodes of hemoptysis, along with chest pain, breathing difficulties, fever, and an elevated total leukocyte count (14.6 K/ul). In light of these findings, blood and urine cultures were collected, and Escherichia coli growth was observed in the blood culture.
As a result, the patient was diagnosed with Ebstein's anomaly with hemoptysis and sepsis. But due to the patient's age and the presence of sepsis, plans for cardiovascular surgery were abandoned, and the patient was provided with symptomatic treatment. This treatment included proton pump inhibitors, potent antibiotics, bronchodilators, and vitamin supplements. Following the necessary interventions, the patient was discharged with appropriate guidance.
DISCUSSION:
Ebstein's anomaly represents a distinctive variation of tricuspid valve dysplasia, marked by the downward displacement of the septal leaflet and the formation of an atrialized right ventricle (RV).2 This condition is now increasingly detected in early life, as in our patient's case. However, prior research has highlighted cyanosis and the necessity for early intervention as risk factors associated with unfavorable outcomes in neonates and young children.4,5,6,7 Notably, our patient did not display cyanosis. Ebstein's anomaly is often associated with atrial septal defects (ASD), which were evident in our patient's chest radiography.8 Additionally, our case is unique because it involved sepsis caused by the presence of gram-negative bacteria in the blood, a circumstance not previously reported in similar cases.
In instances of acute worsening of right heart failure, the primary therapeutic strategy typically entails the use of diuretics, vasodilators, cardiotonic medications, dietary sodium restrictions, and abdominal paracentesis.15 However, these interventions were not required in our case, and she was instead provided with necessary symptomatic treatment. However, Surgery plans were abandoned due to the bloodstream infection and the patient's younger age. Though, Surgery is usually recommended for individuals with Ebstein's anomaly who exhibit an enlarged right heart and a deteriorating ventricular function.17
CONCLUSION:
Numerous pediatric patients with congenital heart diseases may initially exhibit symptoms related to other systemic illnesses. In our case, the patient's overall health, age, and the presence of sepsis made her unsuitable for surgical intervention. Furthermore, the patient did not display cyanosis, had good functional capacity, and maintained acceptable right ventricular function with moderate tricuspid valve regurgitation and minor lung opacities in the lower lobe. Consequently, we did not pursue surgical correction for the accompanying anomalies but opted for symptomatic treatment instead.
CONFLICT OF INTEREST:
The authors have no conflicts of interest regarding this investigation.
ACKNOWLEDGMENTS:
The authors would like to thank fortis healthcare, shalimar bagh, delhi for their kind support during data collection
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Received on 18.09.2023 Modified on 19.03.2024
Accepted on 15.07.2024 ©Asian Pharma Press All Right Reserved
Asian J. Pharm. Tech. 2024; 14(3):247-250.
DOI: 10.52711/2231-5713.2024.00040