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CARDIOLOGY

Cite as: Archiv EuroMedica. 2024. 14; 4. DOI 10.35630/2024/14/4.407

Received 18 June 2024;
Accepted 31 August 2024;
Published 02 September 2024

ADVANCES IN DIAGNOSIS AND TREATMENT OF CONGENITAL HEART DISEASE: A COMPREHENSIVE REVIEW

Jan Ramian1 orcid id logo, Karol Wielgus2 email orcid id logo,
Maria Pawłowska2 orcid id logo, Piotr Bator1 orcid id logo,
Grzegorz Łyko1 orcid id logo, Karol Magiera1 orcid id logo,
Maria Antos3 orcid id logo, Adrian Bobrzyk1 orcid id logo,
Angelika Wawryszuk3 orcid id logo, Weronika Kamińska1 orcid id logo

1Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland
2Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Katowice. Poland
3Collegium Medicum, Jan Kochanowski University, Kielce, Poland

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  karol.wielgus23@gmail.com

ABSTRACT

The purpose of this article is to provide a comprehensive review of recent advances in the diagnosis and treatment of congenital heart disease (CHD). CHD, which affects about 1% of live births worldwide, is still a major problem in pediatric cardiology. The most prevalent congenital cardiac defects—Ventricular Septal Defect (VSD), Tetralogy of Fallot (TOF), Coronary Artery Fistula, Coarctation of the Aorta (CoA), Aortic and Pulmonary Stenosis, Valve Insufficiency, Double Outlet Right Ventricle (DORV), Ebstein Anomaly, Transposition of the Great Arteries (TGA), Anomalous Venous Return, and Hypoplastic Left Heart Syndrome (HLHS) are all thoroughly examined in this review. The review examines current diagnostic and treatment strategies, highlighting the benefits, drawbacks, sensitivity, and specificity of several imaging modalities, including as CT, MRI, and echocardiography. It also discusses the historical evolution of treatment outcomes, emphasizing the tremendous advances in patient care and surgical procedures that have significantly mproved survival rates and quality of life for CHD patients.

Keywords: Congenital Heart Disease (CHD), Echocardiography, Pediatric Cardiology, Surgical Outcomes, Diagnostic Imaging

INTRODUCTION

Congenital heart disease, which affects about 1% of live births globally, is still a major concern in pediatric cardiology. Significant progress has been made in the last several decades in the diagnosis and treatment of congestive heart failure (CHD), improving patient survival and quality of life. The Ventricular Septal Defect (VSD), Tetralogy of Fallot (TOF), Coarctation of the Aorta (CoA), and Atrial Septal Defect (ASD), Coronary Artery Fistula, Pulmonary Stenosis, Aortic Stenosis, Valve Insufficiency, Double Outlet Right Ventricle, Ebstein Anomaly, Transposition of the Great Arteries, Anomalous Venous Return and Hypoplastic Left Heart Syndrome are most common congenital heart disorders which will be the subject of this review. We provide a thorough overview of the existing diagnostic and therapeutic approaches, stressing their sensitivity, specificity, benefits, and drawbacks, by looking through the most recent professional literature. We also present a historical perspective on survival rates and talk about surgical results.

MATERIALS AND METHODS

This review article was conducted using a systematic approach to literature search and analysis. The following methodology was employed:

Literature Search:

Inclusion Criteria:

This methodological approach ensured a comprehensive and up-to-date review of the advances in diagnosis and treatment of congenital heart diseases. The systematic nature of the literature search and analysis aimed to minimize bias and provide a robust foundation for the conclusions drawn in this review.

RESULTS

Congenital heart disease as a diverse group that causes many different symptoms due to the fact that the given definition encompasses many structural defects like heart valve defects, stenosis, atrial and ventricular septal defects heart muscle abnormalities, and a defect inside wall of the heart in conjunction with replacing the outflow of the great arterial vessels from the ventricles. Patients with CHD usually present symptoms like early fatigue, reduced physical fitness and in some cases cyanosis. During examination on auscultation heart murmur will be heard. [1] As these symptoms are regarded as unspecific to make proper diagnosis imaging is required. The role of diagnostic testing becomes even more important given that birth defects should be detected in fetus in order to develop the fastest and most effective treatment possible.

Staring with the safest and easiest to obtain method- ultrasonography, prenatal echocardiography to be precise. Using four four-chamber views along with three vessels and three vessels plus trachea allows the detection of CHD up to 90%. [2] However, this procedure is highly dependent on the positioning of the fetus (The baby's anterior spine position makes it impossible to perform the examination) as well as the doctor’s skills, which are temporary obstacles, easy to overcome. Therefore, echocardiography proved to be useful as a screening test for heart defects. If fetal, maternal, or familial factors increase the risk of CHD to >2% to 3%, a fetal echocardiography should be done. It is additionally required if CHD is suspected during obstetric screening. It might be considered when the risk is 1% to 2%; however, it is not recommended when the risk is ≤1%. [3] The evolution of this method is 3/4D ultrasound. It is either reconstructed based on 2D plane scans or calculated scan in real-time based on pixel points of references, which allows obtaining the volume of the heart’s chambers, combined with Doppler mode gives a total functional picture of the heart. This method negates the need for computer tomography with its harmful effects, however, it’s still in trials [4].

The next method is MRI, a less accessible, more costly and time-consuming method, limited by a small volume of the heart and uncontrollable movements of the fetus. Yet, it negates USG shortcomings like susceptibility to doctor's opinion, fetal position or maternal obesity, giving a robust multiplanar view of the heart this method is preferred in the assessment of cardiac structure and ventricular volume and function [4].

At the end there is computed tomography, reduced to an ancillary method or used only in non-pregnant cases because of the high radiation dose and the frequent need to sedate patients. However, the newer-generation dual-source CT method introduced reduces the examination time as well as the radiation dose received and, by providing individual frames faster than a heartbeat, is the method of choice for imaging small structures like coronary vessels [5].

Ventricular Septal Defect

The most prevalent congenital cardiac abnormality is VSD. Echocardiography is considered the gold standard for diagnosis due to its high sensitivity (98%) and specificity (99%) in identifying the existence, location, and extent of cardiac defects. [6] Doppler imaging shows blood flow across the septum, which improves the assessment. Cardiovascular MRI and CT angiography offer high-resolution images in difficult instances or when more precise anatomical information is required; but, because of their greater price and the requirement for anesthesia in small children, they are not as frequently used.[7] Options for treatment include both surgical intervention and medicinal maintenance. Frequently, small VSDs close on their own and just need to be monitored. [8] Large VSDs, on the other hand, that result in pulmonary hypertension or heart failure require surgical closure, usually through open heart surgery. Despite being less invasive, the transcatheter technique is only used in specific situations because of device size restrictions and positioning difficulties. [9] Over 95% of patients who undergo surgical repair of VSDs survive 20 years after the procedure. [10] Prior to the development of cardiopulmonary bypass in the 1950s, patients had a dismal prognosis and frequently passed away at a young age. The state of surgery and postoperative care has greatly improved, leading to better results. The gold standard for diagnosing VSDs is still echocardiography, and the only effective treatment for major abnormalities is still surgery. While open surgery continues to be the gold standard for now, the development of less intrusive methods promises additional advancements in the future.

Tetralogy of Fallot

Four main characteristics of TOF are right ventricular hypertrophy, pulmonary stenosis, VSD, and an overriding aorta. TOF is classified as a complicated CHD. The accuracy of prenatal diagnosis using fetal echocardiography has increased, enabling early postnatal care planning. [11] Echocardiography, which offers precise anatomical and functional data, is a major tool in postnatal diagnosis. When echocardiographic windows are not as good, MRI is frequently utilized in older children and adults to evaluate the pulmonary arteries and right ventricular outflow tract. [12] Surgical repair is the main treatment for TOF, and it is usually done in the first year of life. The typical technique is relieving right ventricular outflow tract blockage and closing VSD.[6] In order to maintain pulmonary valve function and minimize the need for additional treatments, surgical procedures have developed over time. Catheter-based procedures, including balloon valvuloplasty or pulmonary valve replacement, provide less invasive options for patients with residual pulmonary stenosis or regurgitation.[13] With almost 90% survival at 30 years after repair, the long-term prognosis for TOF has significantly improved. [14] Prior to the first intracardiac surgery that was successful in 1954, TOF frequently resulted in early childhood death. The 1970s saw the introduction of phased repair methods, which significantly enhanced long-term survival and decreased early death. Advanced surgical procedures and early detection have substantially improved the therapy of TOF. Even while total repair is still the preferred course of action, continued advancements in less invasive procedures offer hope for the future.

Coarctation of Aorta

Aortic constriction, usually in the vicinity of the ductus arteriosus, is the hallmark of CoA. Since the issue is frequently identified in early childhood, echocardiography—which visualizes the coarctation and evaluates the gradient across the narrowing—is a useful tool for making a clear diagnosis. [8] MRI and CT angiography are being utilized more often in older children and adults to support the planning of interventions and provide a comprehensive anatomical assessment. Although these modalities are more costly and necessitate sedation in younger patients, they provide exceptional sensitivity and specificity.[7] Stent implantation, balloon angioplasty, and surgical repair are available treatment options. Surgical repair, which has historically been the cornerstone of care, entails end-to-end anastomosis followed by resection of the constricted segment.[15] A less invasive option is balloon angioplasty, either with or without stent implantation, especially for older kids and adults. But there's a chance of recoarctation and aneurysm formation, thus long-term monitoring is required. [16] With survival rates over 90% at 30 years following surgery, long-term outcomes for CoA repair are generally positive.[10] On the other hand, individuals may experience late problems such as aortic aneurysm and hypertension, which call for ongoing surveillance. In the past, untreated CoA caused early death from heart failure or stroke, usually in the third or fourth decade of life.[7] Surgical methods were the only ways that CoA was treated; however, less invasive catheter-based methods are also used. Although there is a chance of late difficulties, long-term results are very good, which emphasizes the importance of continuous monitoring.

Atrial Septal Defect

ASD, a common congenital heart defect, is identified by an atrial septal opening. The gold standard for diagnosis is echocardiography, especially when transesophageal echocardiography (TEE) is used. TEE provides great sensitivity and specificity in identifying the location and size of the lesion.[9] Cardiac MRI is helpful in difficult cases and offers additional information, especially when evaluating right ventricular function and pulmonary venous return. [7] Small ASDs may just need to be monitored or they may close on their own, especially in infants. Greater ASDs, particularly those resulting in a substantial enlargement of the right heart, are usually treated surgically or with a transcatheter procedure. [9] Because of the transcatheter method's high success rate and minimally invasive nature, it is now the favored choice in many centers when utilizing an occluder device. For very big defects or those with accompanying malformations, surgical closure is still required. [13] With almost 100% survival at 20 years after intervention, the prognosis for ASD repair is excellent. [16] Historically, ASDs frequently resulted in adult right heart failure and atrial arrhythmias prior to the advent of trustworthy surgical procedures in the 1950s. [7] When repairs are made early in life, modern methods have all but eradicated these difficulties. Thanks to advancements in diagnosis and therapy, the majority of people with ASD now have normal life expectancies and quality of life. Though surgical repair is still a vital option in complicated instances, there has been a notable shift towards minimally invasive transcatheter closure.

Coronary Artery Fistula

Abnormal connections between the coronary arteries and the heart chambers or great vessels are known as coronary artery fistulas, or CAFs. Technological developments in imaging modalities, especially high-resolution echocardiography and coronary CT angiography, have greatly improved early detection and comprehensive anatomical characterization, which are essential for designing interventions. These days, the gold standard for non-invasive CAF imaging is coronary CT angiography. [17] The primary course of treatment for CAF closure is now transcatheter closure, particularly in patients who are symptomatic or have large shunt volumes. Amplatzer devices and coil embolization are frequently utilized procedures with good effectiveness and low complication rates. [18] By reducing the need for more invasive surgical treatments and improving outcomes, the transition to transcatheter approaches highlights the significance of precise diagnosis and customized treatment planning.

Pulmonary Stenosis

An blockage of blood flow from the right ventricle to the pulmonary artery is the hallmark of pulmonary stenosis (PS). The major diagnostic method is still echocardiography, especially Doppler imaging, which gives crucial details on the gradient and degree of stenosis.[19] For the majority of PS cases, balloon valvuloplasty has become the therapy of choice since it offers a comparable, less invasive option to surgical valvotomy. [20] Balloon valvuloplasty has completely changed how PS is managed by minimizing the necessity for surgery and the ensuing recovery periods.

Aortic Stenosis

Blood flow from the left ventricle to the aorta is impeded by aortic stenosis (AS), which is characterized by constriction of the aortic valve. Evaluation of the architecture and function of the valves depends heavily on echocardiography, which uses both transesophageal and transthoracic techniques. The 2020 guidelines from the American College of Cardiology place a strong emphasis on the use of echocardiography in AS evaluation. Balloon aortic valvuloplasty is the recommended first intervention for newborns and infants. While transcatheter aortic valve replacement, or TAVR, is becoming more popular for select high-risk cases, surgical aortic valve replacement is still the norm for older children and adults. [21] Although further research is needed to determine long-term effects, the use of TAVR in some adult and pediatric populations presents a viable less intrusive option.

Valve Insufficiency

Valve insufficiency can result from congenital abnormalities or subsequent to other CHDs. This includes regurgitation of the mitral and tricuspid valves. The preferred diagnostic technique is echocardiography, with MRI offering additional anatomical details in more complicated situations. [22] Significant breakthroughs in surgical repair, such as the use of chordal replacement and annuloplasty rings, have improved patient outcomes. There are more and more choices for transcatheter valve replacement and repair, especially for patients undergoing high-risk surgery. [23] The prognosis for patients with valve insufficiency has significantly improved due to the development of minimally invasive procedures and improved surgical approaches, underscoring the significance of an early and precise diagnosis.

Double Output Right Ventricle

In the uncommon and complicated condition known as double output right ventricle (DORV), the right ventricle is the primary source of the great arteries in both cases. Fetal echocardiography advances have improved prenatal detection, enabling early postnatal care planning. [24] Surgical correction, using a method appropriate to the anatomical arrangement, continues to be the cornerstone of DORV therapy. Among the tactics used are the Rastelli method, intraventricular tunnel repair, and arterial switch surgery.[25] Although survival rates have increased with early identification and the adoption of cutting-edge surgical procedures, personalized treatment strategies are still necessary because of the complexity of DORV.

Ebstein Anomaly

The tricuspid valve is malformed in an Ebstein anomaly, which can cause severe regurgitation and perhaps cardiac failure. The main diagnostic tool is echocardiography, but MRI is frequently used for a more thorough anatomical evaluation. [26] The Cone technique, tricuspid valve repair, and, in extreme circumstances, heart transplantation are among the surgical alternatives. The potential of the Cone operation to return tricuspid valve function to almost normal has led to its rise in popularity. [27] Treating Ebstein anomaly with the Cone operation is a major step forward, but managing potential consequences will require long-term follow-up and cautious patient selection.

Transposition of the Great Arteries

The reversal of the main arteries, which causes cyanosis, is a characteristic of transposition of the great arteries (TGA). For an early diagnosis that allows for prompt postnatal intervention, fetal echocardiography is essential. [28] The usual course of treatment is still arterial switch surgery (ASO), usually carried quite soon after birth. Despite the high success rate of ASO, possible problems include neoaortic root dilatation and coronary artery abnormalities require long-term follow-up. [29] For TGA patients, the ASO has greatly increased survival and quality of life; but, long-term monitoring is still necessary to manage late problems.

Anomalous Venous Return

Abnormal pulmonary vein draining into the right atrium or systemic veins is known as anomalous venous return, or total anomalous pulmonary venous return (TAPVR). The main diagnostic method is echocardiography, with comprehensive anatomical assessment provided by magnetic resonance imaging (MRI). [30] In neonates, surgical correction is frequently necessary and urgent, especially when there is obstructed TAPVR. Surgical technique improvements have led to better results; survival depends on early intervention. [31] In order to effectively manage anomalous venous return, early diagnosis and timely surgical intervention are essential, and continued advancements in surgical methods help to raise survival rates.

Hypoplastic Left Heart Syndrome

Underdevelopment of the left heart's components is a defining feature of hypoplastic left heart syndrome (HLHS), one of the most severe forms of congenital heart disease. Fetal echocardiography allows for early planning of the intricate phased surgical operations needed after delivery. [32] The usual treatment approach is still the Norwood procedure followed by the Glenn and Fontan surgeries. Hybrid procedures, which mix catheter-based and surgical techniques to improve outcomes, are among the latest developments. [33] Although the long-term prognosis is still difficult, improvements in surgical methods and perioperative care have greatly increased survival despite the complexity and high-risk nature of managing HLHS.

Table 1. Congenital Heart Defects: Diagnosis, Treatment, and Prognosis - A Comparative Overview

Congenital Heart Defect Primary Diagnostic Method Main Treatment Approaches Long-term Prognosis
Ventricular Septal Defect (VSD) Echocardiography Small: Monitoring Large: Surgical closure >95% survival 20 years post-surgery
Tetralogy of Fallot (TOF) Fetal/postnatal echocardiography, MRI Surgical repair in first year of life ~90% survival 30 years post-repair
Coarctation of Aorta (CoA) Echocardiography, MRI, CT angiography Surgical repair, balloon angioplasty, stent implantation >90% survival 30 years post-surgery
Atrial Septal Defect (ASD) Echocardiography (esp. TEE) Small: Monitoring Large:Transcatheter/surgical closure ~100% survival 20 years post-intervention
Coronary Artery Fistula (CAF) Coronary CT angiography Transcatheter closure Good effectiveness, low complication rates
Pulmonary Stenosis (PS) Echocardiography with Doppler Balloon valvuloplasty Significantly improved management
Aortic Stenosis (AS) Echocardiography Balloon valvuloplasty (infants), TAVR/surgical replacement (older) Improved with TAVR, long-term effects need study
Double Outlet Right Ventricle (DORV) Fetal echocardiography Surgical correction (various techniques) Improved with early detection and advanced surgery
Ebstein Anomaly Echocardiography, MRI Cone procedure, valve repair, heart transplantation Improved with Cone procedure, needs long-term follow-up
Transposition of Great Arteries (TGA) Fetal echocardiography Arterial switch operation (ASO) Greatly improved survival and quality of life
Total Anomalous Pulmonary Venous Return (TAPVR) Echocardiography, MRI Urgent surgical correction in neonates Improved with early intervention
Hypoplastic Left Heart Syndrome (HLHS) Fetal echocardiography Staged surgeries (Norwood, Glenn, Fontan), hybrid procedures Improved survival, but still challenging long-term

Source: Based on the literature cited in the article

CONCLUSION

Over the past few decades, significant advancements in the detection and treatment of congenital heart disease have improved the prognosis and quality of life for those who are affected. The majority of congenital cardiac problems can still only be diagnosed by echocardiography; in more complicated situations, MRI and CT scans can be extremely helpful as supplementary diagnostic tools. Treatment outcomes have been markedly improved by the introduction of less intrusive methods and surgical technique advancements. Despite these developments, more research and development of cutting-edge diagnostic and treatment modalities is necessary to enhance long-term results and lower the prevalence of congenital cardiac disease worldwide. Effective care is essential to enabling patients with congestive heart failure to live longer, healthier lives. This includes early diagnosis, individualized treatment strategies, and ongoing post-operative monitoring.


Table 2. Key Themes and Conclusions in Advances in Diagnosis and Treatment of Congenital Heart Disease

Theme Key Conclusions
Diagnosis
  • Echocardiography remains the gold standard for most congenital heart defects
  • MRI and CT are valuable complementary tools in more complex cases
  • Advances in fetal echocardiography enable early postnatal care planning
Treatment
  • Significant progress in surgical techniques has improved treatment outcomes
  • Increased use of less invasive methods, such as transcatheter procedures
  • Personalization of treatment strategies based on defect type and patient condition
Long-term outcomes
  • Substantial improvement in survival rates compared to the past
  • Better quality of life for patients with congenital heart defects
  • Necessity for long-term follow-up and monitoring of potential complications
Advances in specific defects
  • VSD: Echocardiography as diagnostic gold standard; surgery remains primary treatment
  • TOF: Evolution of surgical techniques; increasing role of percutaneous interventions
  • CoA: Efficacy of surgical and percutaneous treatment; need for long-term monitoring
  • HLHS: Progress in staged treatment; development of hybrid techniques
Future directions
  • Need for further research on new diagnostic and therapeutic methods
  • Aim to reduce global prevalence of congenital heart defects
  • Focus on improving long-term outcomes and patient quality of life

Source: Based on the literature cited in the article

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