Rare Congenital Heart Disease Research Articles

Pulmonary Atresia With an Intact Ventricular Septum: Preoperative Physiology, Imaging, and Management.

Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare complex cyanotic congenital heart disease with heterogeneous morphological variation. Prenatal diagnosis allows for developing a safe plan for delivery and postnatal management. While transthoracic echocardiography allows for detailed delineation of the cardiac anatomy, additional imaging modalities such as computed tomography, magnetic resonance imaging, and catheterization may be necessary to further outline features of the cardiac anatomy, specifically coronary artery anatomy. The size of the tricuspid valve and right ventricular cavity as well as the presence of right ventricle-dependent coronary circulation help to dichotomize between biventricular repair versus univentricular palliation or heart transplantation, as well as predicting the expected survival. The delineation and understanding of these features help to dictate both medical and surgical management.

Making transition right for young people like me

Growing up is hard for anyone—but nowhere is this truer than for young people making the difficult transition from children's to adult healthcare services. In this Patient Perspective, Hannah Phillips reflects on her journey with a rare congenital heart disease. She shares the positive choices she has made, and continues to make daily, that allow her to not only cope—and even thrive—with her own reality, but also to provide support to the many young people who are struggling with their transition to adult cardiac care.

Common problems in rare congenital heart diseases

Congenital heart disease (CHD) is the most common developmental anomaly and is found in about 1% of all live-born children. Recent progress in cardiac surgery and pediatric cardiology has resulted in large numbers of adult patients who have undergone surgical correction of complex congenital heart defects. It is estimated that about 85% of newborns with heart defects will reach adulthood.

Absent Pulmonary Valve Syndrome – Special Prenatal Care and Early Surgery in Obstetric/Cardiac Center - A New Hope for Postnatal Survivors?

Abstract Introduction: APVS (Absent Pulmonary Valve Syndrome) is a rare congenital heart disease. Its incidence according to The Polish National Registry of Fetal Cardiac Pathology in years 2004 - 2016 was 0.6%.This disease is caused by the absence or the residual pulmonary artery valve resulting in significant dilation of the pulmonary trunk and its branches. In utero deaths are reported. After birth the major problem is respiratory failure and high preoperative and postoperative mortality. Material and methods: In 1995 to 2016, 11 fetuses with APVS were diagnosed in our unit, at the average 27,5 weeks of gestation (min. 18.5- max 37.1 weeks of gestation). Two groups were analysed in this series of cases: “Old one” by 2011 (n = 6) and “New one” since 2011 (n = 5) and perinatal care as well as survival were compared. We analysed the fetal echo results, perinatal care including transplacental digoxin and steroids treatment in NEW group, the longevity of the pregnancy and neonatal/infants outcome. Results: In Old group the average day of cardiac surgery was day 91st after birth (max. 161) and the survival was 50% . In the New group the average surgery day was 41st day and the postoperative survival was 60%, however there was no statistical significance ( p > 0,05). Conclusions: There is no single parameter from prenatal life in foetuses with APVS which may allow to predict the positive outcome meaning neonatal survival. However optimal perinatal care (early detection of defect, transplacental digoxin at least 3-4 weeks, steroids, no preterm delivery, on-time delivery, postnatal care in tertiary center) and relatively early cardiac surgery may have combined impact on the improvement of survival after prenatal diagnosis of APVS, however more data are necessary to prove this hypothesis.

Multimodality imaging in rare congenital heart disease: unilaterally absent proximal pulmonary artery in a newborn.

Multimodality imaging in rare congenital heart disease: unilaterally absent proximal pulmonary artery in a newborn.

The Management of Left Pulmonary Artery Sling in Senegal: Our Experience from One Case

Pulmonary Artery Sling (PAS) is a rare congenital heart disease due to abnormal origin of Left Pulmonary Artery (LPA) from the Right Pulmonary Artery (RPA), then encircling the distal part of the trachea. The treatment is a surgical repair consisting of reimplantation of the LPA on the main pulmonary artery over cardiopulmonary bypass. The authors report a clinical case of PAS in a 5.5 years old boy diagnosed in Senegal then successfully operated in France.Cardiovasc. j. 2017; 10(1): 94-96

O2-2 - Strategy for the Management of Unrepaired Ebstein's Disease in Adult Patients

Background: Ebstein's Disease (ED) is a rare congenital heart disease with the tricuspid valve dysfunction. Little is known about the clinical course and the optimal strategy for the management of adult ED patients. Method and Result: The clinical course of six consecutive adult patients of unrepaired ED was investigated. Among them, four cases including three asymptomatic pregnant women (32, 36 and 37 y.o.) and one elderly patient (72 y.o.) with severe tricuspid regurgitation (TR) and chronic atrial fibrillation (Af) had no cardiac event. On the other hand, two cases required surgical intervention. One younger patient (32 y.o.) with atrial septal defect and severe TR had surgical repair due to progressive polycythemia by hypoxia. Another elder patient (64 y.o.) with severe TR had tricuspid valve repair due to exacerbated heart failure induced by new onset of Af. Conclusion: The clinical course of unrepaired ED in adult patients is varied. Careful follow-up is important not to miss the optimal timing of surgical intervention in adult ED patients irrespective of their symptom.

Congenitally corrected transposition of great vessels with infundibular pulmonary stenosis with ventricular septal defect, presenting with atypical atrioventricular nodal reentrant tachycardia: a rare association

Congenitally corrected transposition of great vessels (CCTGV) is a rare congenital heart disease (CHD) accounting for <1% of CHDs. CCTGV with infundibular pulmonary stenosis (PS) with ventricular septal defect (VSD) is part of Fallot’s physiology. It is known to be associated with bradyarrhythmias like atrioventricular (AV) blocks, and acquired complete AV block occurs at a rate of 2% per year. Patients can have left-sided accessory pathways, which may cause atrioventricular reentrant tachycardia (AVRT). Tachyarrhythmias like atrioventricular nodal reentrant tachycardia (AVNRT) are very rare in such patients. A 30-year-old woman, a known case of CCTGV with PS with VSD, not corrected surgically and not on any drugs, presented with the syndrome of paroxysmal supraventricular tachycardia without hemodynamic compromise. Electrocardiogram showed atypical AVNRT. She was pharmacologically cardioverted to normal sinus rhythm with adenosine. CTGV with PS with VSD known to be associated with AV blocks, and preexcitation can sometimes present with atypical AVNRT.

Influence of staged repair and primary repair on outcomes in patients with complete atrioventricular septal defect and tetralogy of Fallot: a systematic review and meta-analysis.

Complete atrioventricular septal defect with tetralogy of Fallot is a rare congenital heart disease. The combination of these lesions occurs in about 1% of all patients with atrioventricular canal defects and in 5-6% of patients with tetralogy of Fallot. To assess the influence of surgical strategy on the survival and reintervention rate for the left atrioventricular valve and right ventricular outflow tract. We analyzed all related studies since 1986. Thirty-eight articles were initially retrieved via PubMed/MEDLINE, Cochrane Central Register of Controlled Trials and Google Scholar, from which 18 retrospective studies were included in the systematic review and 8 studies in the meta-analysis. There was no significant difference in the 6-year survival between staged repair and primary repair [80 patients in the primary group and 81 patients in the staged group; I2 = 0%; time-to-event data Peto odds ratio 0.66, 95% confidence interval (CI) 0.3-1.5, P = 0.31; hazard ratio 0.66, 95% CI 0.3-1.3, P = 0.23]. Both groups had an equal reintervention rate for the left atrioventricular valve [75 patients in the primary group and 71 patients in the staged group; I2 = 0.26%; the Mantel-Haenszel odds ratio 0.60, 95% CI 0.22-1.68, P = 0.33], but patients who received an initial palliation had a higher rate of reoperation on the right ventricular outflow tract [I2 = 0%; the Mantel-Haenszel odds ratio 0.27, 95% CI 0.27-0.9988, P = 0.05]. Results of this meta-analysis reveal no difference in 6-year survival and reoperation rate for the left atrioventricular valve; however, patients who underwent staged repair had a higher rate of reintervention for the right ventricular outflow tract, which could be related to initially poor pulmonary bed anatomy. Therefore, both the primary repair and the staged repair are acceptable options for repair of complete atrioventricular septal defect with tetralogy of Fallot. The choice of surgical strategy must consider the anatomy of the pulmonary bed, patient condition and associated anomalies, which could affect surgical risk.

NONCOMPACTION CARDIOMYOPATHY

In this article, the review of the literature on various aspects of the noncompaction cardiomyopathy is presented. Non-compaction cardiomyopathy is a relatively rare congenital heart disease characterized by an excessive prominence of trabecular meshwork, and deep recesses of the ventricular myocardium. The most frequent is left ventricular noncompaction (LVNC). LVNC can occur in isolation or coexist with other cardiac and systemic anomalies. Noncompaction can be detected with an echocardiography or cardiac magnetic resonance imaging. The clinical presentation varies ranging from asymptomatic patients to patients who develop ventricular arrhythmias, heart failure, thromboembolism.

Coronary sinus atrial septal defect in adult (RCD code: IV-2B.1)

We present a case report of a 45‑year old man, who was admitted to medical center due to dyspnea and cough. Right bundle branch block was detected on electrocardiography. Transthoracic echocardiography demonstrated coronary sinus dilatation, enlargement of right‑side chambers, moderate to severe pulmonary hypertension and atrial septal defect with left‑to‑right shunt. Coronary sinus atrial septal defect was diagnosed by transesophageal echocardiography and computed tomography. Surgical repair of the defect was performed. Atrial flutter occurred in early postoperative period and was successfully treated by electrostimulation. Coronary sinus atrial septal defect in adults is a rare congenital heart disease. Transesophageal echocardiography and computed tomography are imaging modalities of choice in such cases. Surgical treatment is needed to prevent further complications. JRCD 2017; 3 (3): 86–88

Anomalous Origin of the Left Coronary Artery From the Pulmonary Artery Presenting in Adulthood: a French Nationwide Retrospective Study

Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital heart disease usually diagnosed during the first months of life. Without surgical treatment, ALCAPA carries a high mortality risk, and disease presentation in adulthood is rare. We describe the diagnosis and management of patients presenting with ALCAPA in adulthood. This multicenter French nationwide retrospective study included adult patients diagnosed from 1980 to 2014. Eleven adult patients (mean age: 38 ± 17 years) were analyzed. All patients were symptomatic, presenting with chest pain, palpitations, heart failure, or syncope. Electrocardiogram was abnormal in 8 (73%) patients. Echocardiogram showed a mildly depressed left ventricular ejection fraction of 50 ± 13%, kinetic abnormalities in 5 (45%) patients, and significant mitral regurgitation in 8 (73%) patients. Coronary angiography was performed in 10 (91%) patients and confirmed the diagnosis. Computerized tomography scan, magnetic resonance imaging, and myocardial scintigraphy were performed when deemed necessary. Ten patients underwent reconstructive surgery, but 1 patient was not operated because of age. Four patients experienced postoperative complications including cardiogenic shock, heart failure, renal failure, or additional surgery. After a median follow-up of 2.5 years, all 10 operated patients were alive and asymptomatic, and the nonoperated patient had died at the age of 70 from syncope related to ventricular tachycardia. ALCAPA may be diagnosed in adults. Although complications may occur postoperatively, long-term outcome is favorable in adult patients undergoing surgical correction. Surgery should be discussed as first-line therapy in adults with ALCAPA.

Single Ventricle with Infective Endocarditis and Brain Abscess: A Rare Case Report

Right-sided valve endocarditis is usually uncommon. Pulmonary valve endocarditis with septic emboli as the complication of a rare congenital heart disease is even unusual. Herein, we report a case of a 27-year-old male congenital cyanotic heart disease with pulmonary valve endocarditis presenting with 5 days history of fever and headache. Echocardiography demonstrated double-inlet left ventricle with hypoplastic right ventricle with discordant origin of great arteries. In addition, multiple mobile vegetations in the pulmonary valve are also seen. Brain imaging revealed cerebral abscess. The occurrence of pulmonary valve endocarditis and cerebral abscess in a case of single ventricle is very rarely reported.

Cor triatriatum dextrum: A rare congenital cardiac abnormality

Cor triatriatum dextrum is an exceptionally rare congenital heart disease, in which the right atrium is partitioned into two chambers by a membrane to form a triatrial heart. It is caused by persistence of the right valve of sinus venosus. The aim of presenting this case is to develop awareness regarding cor triatriatum dextrum , though a rare case, can be present and may contribute to right heart failure and 2D-echocardiography is an important tool in making early and accurate diagnosis. We are reporting a case of an elderly Bangladeshi male presented with the features of mitral stenosis with pulmonary hypertension with CCF with respiratory tract infection, where cor triatriatum dextrum with an atrial septal defect was an incidental finding on routine echocardiographic assessment.Bangladesh Heart Journal 2016; 31(1) : 37-40

Forme atypique de cœur triatrial chez un patient de 59 ans

Cor triatrium is a rare congenital heart disease typically diagnosed amongst very young patients. Delayed diagnosis in the elderly is much more unusual. We report the case of a 59-year-old male with unremarkable medical history in whom we have discovered, on an echocardiography performed for an exploration of transient ischemic accident with atrial fibrillation, a particular form of an isolated cor triatrium dextrum investigated with multimodality imaging.

The Short Cut Strategies in Diagnostic Approach For Rare Congenital Heart Diseases Using MRI , Demonstrated By Ten Selected Cases of Our Experience at Bangkok Heart Hospital.

Almost congenital heart diseases (CHD) are difficult to diagnose especially in rarediseases. Occasionally, the diagnosis of a rare congenital heart disease must occur onfirst sight. Although there are many superb diagnostic tools such as 3D echocardiography,Multi-Detector Computed Tomography (MDCT) and Magnetic Resonance Imaging(MRI) which can provide more information on CHD, the lack of experience of thecardiac imaging operator observing some rare congenital heart diseases may cause anincomplete or a missing diagnosis. This article will share the experiences of conceptualstrategies for protocol preparation to obtain the key images to diagnose rare congenitalheart disease that can be practiced for routine work or even in the first recognitionusing MRI through the demonstration of ten selected cases of our experience at BangkokHeart Hospital.

Giant left atrial appendage aneurysm compressing the left anterior descending coronary artery

Left atrial appendage aneurysm (LAAA) is a rare congenital structural heart disease. It is often diagnosed by echocardiography; however, other imaging modalities can add to its diagnosis and its potential effects on the surrounding structures. A 16-year-old boy presented with dyspnea and palpitation. Transthoracic echocardiography showed a large LAAA communicating with the LA through a narrow neck with impaired left ventricular (LV) systolic function. Multidetector cardiac tomography showed that the LAAA is compressing the left anterior descending artery. The LAAA was surgically resected followed by improvement of the LV systolic function.

Unroofed coronary sinus detected by 2D/3D echocardiography in a patient referred to catheter ablation for atrial fibrillation

A 67-year-old female visited our echo lab for a preoperative screening exam before radiofrequency catheter ablation for atrial fibrillation. Transthoracic echocardiography revealed abnormal color flow signal in the right atrium, and following 2D/3D transesophageal echocardiography proved partial type of unroofed coronary sinus. Absence of associated congenital abnormalities was ruled out by Doppler and contrast echo examinations. Surgical findings confirmed exactly the same anatomical abnormalities as preoperative 2D/3D echocardiography. Echocardiography plays an important role in finding unexpected underlying cardiac diseases in patients who are referred to arrhythmia clinics. In the present case with atrial fibrillation, we could accurately diagnose an unroofed coronary sinus syndrome during preoperative transthoracic and transesophageal echocardiography prior to planned radiofrequency catheter ablation.<Learning objective: Radiofrequency catheter ablation therapy for atrial fibrillation has been greatly developed in recent years. Echocardiography plays an important role in the diagnosis of underlying cardiac diseases in patients who are referred to arrhythmia clinics. We could clearly visualize partial type of unroofed coronary sinus by 2D/3D echocardiography in a patient who was planned to undergo radiofrequency catheter ablation, and then could contribute to the proper therapeutic management for the rare congenital heart disease.>

Sudden cardiac death in adults with congenitally corrected transposition of the great arteries.

BackgroundCongenitally corrected transposition of the great arteries (ccTGA) is a rare congenital heart disease. There have been only few reports of sudden cardiac death (SCD) in patients with ccTGA and reasonable ventricular function.MethodsA retrospective review of the medical records of all patients attending our adult congenital heart centre, with known ccTGA.ResultsFrom a database of over 3500 adult patients with congenital heart disease, we identified 39 (∼1%) with ccTGA and ‘two-ventricle’ circulations. 65% were male. The mean age at diagnosis was 12.4±11.4 years and the mean age at last time of review was 34.3±11.3 years. 24 patients (56%) had a history of surgical intervention. 8 (19%) had had pacemaker implantation and 2 had had a defibrillator implanted for non-sustained ventricular tachycardia (NSVT). In 544 years of patient follow-up, there had been five cases of SCD in our population; 1 death per 109 patient-years. Two of these patients had had previously documented supraventricular or NSVT. However, they were all classified as New York Heart Association (NYHA) class I or II, and systemic (right) ventricular function had been recorded as normal, mildly or mildly–moderately impaired, at most recent follow-up.ConclusionsOur experience suggests the need for improved risk stratification and/or surveillance for malignant arrhythmia in adults with ccTGA, even in those with reasonable functional class on ventricular function.

Additional superior vena cava combined with abnormal inflow of the hepatic vein

We represent a case of successful surgical treatment of a rare congenital heart disease: abnormal inflow of an additional superior vena cava into the left atrium, combined with atrial septal defect, mitral and tricuspid valve regurgitation, and abnormal inflow of the left hepatic vein into a roofless coronary sinus.