Heterotaxy is defined as an abnormality where the internal thoraco-abdominal organs demonstrate an abnormal arrangement across the left-right axis of the body characterized by a wide variety of very complex cardiac and extracardiac malformations. Right isomerism is associated with atrioventricular septal defect, conotruncal anomalies, pulmonary stenosis or atresia, and frequent anomalous systemic and pulmonary venous connections. In contrast, cardiac anomalies in patients with left isomerism include bilateral superior vena cava, interruption of the inferior vena cava with azygos continuation, ventricular septal defect, ostium primum defect, and morphologic left ventricular outflow obstruction. Not all patients with left isomerism have cardiac anomalies, and in many patients the cardiac anomalies are not complex. The cellular and molecular mechanisms of the left-right asymmetry have been extensively investigated in the past decade. Recent studies have revealed that rotational movement of the cilia generated an external liquid flow called nodal flow, which determined left-right asymmetric gene expression. Surgical outcomes in heterotaxy patients are improving in the current era. Significant atrioventricular valve regurgitation and obstructed total anomalous pulmonary venous return remain risk factors for the right atrial isomerism. Children with asplenia syndrome who survived the first month of life are at greater risk of dying from sepsis than from the heart disease. This article reviews the current advances in knowledge of the pathogenesis of heterotaxy, as well as diagnosis, physiologic features, and complications.
Congenital heart disease is the most common type of birth defect. It is well known that congenital heart disease can occur in the setting of multiple birth defects as part of various chromosomal and/or genetic disorders. Even in isolated cardiac defects without chromosomal or genetic abnormalities, familial cases have also been described. Therefore, pediatric cardiologists should have thorough knowledge of these disorders and should be required to have some familiarity with the genetic backgrounds to congenital heart disease. I present, in this review, the clinical features and genetic backgrounds of various chromosomal and gene abnormalities with congenital heart disease. And also, I would like to highlight interaction of certain genetic and environmental factors known to be involved with some congenital heart disease. We should fully recognize that the interaction between genetic backgrounds and environmental factors makes clinical features of the congenital heart disease in both a syndromic disorder and isolated defects with no syndromic association. This recognition is very important in both the clinical settings and basic research.
Recently, the number of prenatal diagnoses of congenital heart disease has increased, and the skill for fetal echocardiography is required for many pediatric cardiologists. The first step in learning this technique is screening. Checking the position and size of the structures in the four-chamber view and the three-vessel view may help make optimal images for screening, and learning fetal echocardiography. Obtaining a correctly perpendicular section of the fetal chest is key in visualizing clear images. For obtaining other important basic sections, an ultrasound probe must be positioned at the place where the inter-ventricular septum of the four-chamber view is visualized horizontally on the screen. Establishment of the outpatient clinic for fetal echocardiography may increase the opportunity for learning.
With the development of the catheter ablation therapy, we have needed anatomical information not only to understand the data of 3-dimensional (3D) mapping, but also to avoid the complications associated with catheter manipulation. Especially, we have to obtain a detailed knowledge of the anatomy of left atrium (LA) and its surroundings. Of course, we have been performing catheter ablation looking back over cardiac anatomy for the past twenty years. However, we recognized that there are many unknown structures in LA. In this article, I will choose the following specific structures located in LA and demonstrate them within the pages I ampermitted. (1)LA roof vein (2)Diverticulum of anterior LA wall (3)The translucent area of anterior LA wall (4)Transverse myocardial bundle of anterior LA wall (5)Accessory left atrial appendage (6)Myocardial bridge (7)Atrial muscle defect area
Recently, long-term survival has been achieved in patients with congenital heart disease (CHD) even in severe cases because of the development of medical and invasive treatment, including catheter intervention and cardiovascular surgery. Even without surgical and medical therapy, patients with natal closure of ventricular septal defects (VSD), mild pulmonary stenosis, small VSD, or atrial septal defects can lead normal lives similar to the general population. However, in un-operated patients with moderate to severe CHD, frequent morbidity, such as heart failure, arrhythmias, thromboembolism, and systemic complications, due to cyanosis takes place in their short lives. Also, death of the fetus, neonate, infant, and child are still common. Such complex CHD patients can survive beyond childhood, adulthood, and possibly into their 60s or 70s if patients have appropriate pulmonary blood fl ow with less than mild atrioventricular regurgitation. Adult patients with complex CHD survive and are followed up in many hospitals. In this article, un-operated survival of various CHD will be shown.
In this article, items concerning biomedical statistics according to the Aims of Training for Pediatric Cardiologists issued by the Japanese Society of Pediatric Cardiology and Cardiac Surgery are explained. The items are not only for pediatric cardiologists, however, but also for medical specialists in all the fi elds. Issues discussed in this article are; (1) characteristics of data, (2) representative values and variations, (3) descriptive statistics and analytic statistics, (4) estimations and tests, (5) methods of tests, (6) methods of estimations, (7) correlation and regression, (8) multiple comparison, and (9) charts and graphs.
Objective: We performed the Fontan operation to prevent postoperative left ventricular outflow tract obstruction (LVOTO) in patients with complete transposition of the great arteries (TGA) or TGA type double outlet right ventricle (DORV) with LVOTO. This study compared patient outcomes after Fontan operation and Rastelli operation. Methods: Twenty-one patients with either TGA or DORV with LVOTO underwent the Fontan (n=16) or Rastelli (n=5) operations, respectively. Surgical outcomes and cardiac function were compared between the two patient populations. Results: Maximum follow-up duration after definitive repair using the Fontan and Rastelli operation was 16 (median, 4) years and 19 (median, 15) years, respectively. Early death did not occur in either patient population, but one late death occurred after the Fontan operation. Reoperation was not required after the Fontan operation, but three patients required four reoperations after the Rastelli operation. Ratios of freedom from cardiac events were 94% and 40% at 15 years after the Fontan and Rastelli operations, respectively. Cardiac catheterization revealed higher left ventricular end-diastolic pressure and LVOTO in some patients at 1 year after the Rastelli operation. Cardiac function was good for all patients who survived for> 5 years after either surgery, but hANP and BNP values were abnormally high in three patients after the Rastelli operation. One patient required exercise limitation, and another patient required catheter ablation of atrial fibrillation after the Rastelli operation. Conclusions: These mid-term results suggest that the Fontan operation is the method of choice for definitive repair in patients with TGA or DORV with LVOTO.
Background: Several studies from Western countries have demonstrated that QRS prolongation is related to right ventricular (RV) dysfunction and that the B-type natriuretic peptide is a good marker for RV enlargement based on dysfunction after repair tetralogy of Fallot (TOF). Since the prevalence of patients with QRS duration >180ms may be less in Japan than in Western countries, it remains unclear whether the same relations are observed in Japanese patients. Methods: Sixty-two repaired TOF patients who had narrow QRS (<180msec) underwent cardiac MRI or catheterization for assessment of RV function and blood sampling for BNP and NT-pro BNP. Results: Median age at study was 18.9 years (2.5-64.2 years) and more than half of patients had narrow QRS <120 ms. Median right ventricular end-diastolic volume index (RV-EDVI), end-systolic volume index (RV-ESVI) and ejection fraction (EF) were 127 mL/m2 (63-286 mL/m2), 73mL/m2 (27-172mL/m2) and 46% (27% to 63%), respectively. No relationship was found between B-type natriuretic peptides and RV volume (RV-EDVI and ESVI) or between B-type natriuretic peptides and EF, but the QRS duration (64-176 ms) correlated positively with RV-EDVI, ESVI and negatively with RV-EF. Conclusion: The QRS duration is a good marker to predict the RV volume overload and RVEF, but not levels of B-type peptide in repaired TOF patients with narrow QRS.
Objective: Congenital heart disease (CHD) may take a serious turn in neonates. The present study aimed to investigate CHD cases diagnosed prenatally or postnatal at our institution and clarify the efficacy of fetal cardiac ultrasonographic screening. Method: The study included singleton pregnant women who underwent fetal cardiac ultrasonographic screening at our hospital and gave birth between April 2008 and March 2012. A retrospective chart review was performed. Fetal cardiac ultrasonographic screening for low-risk pregnancy was performed 3 times at around 18, 28, and 36 weeksʼ gestation, via four-chamber, outflow tract, and three-vessel views. A specialized fetal echocardiography was performed for suspected cases by skilled obstetricians and pediatric cardiologists. Result: A total of 9983 examinations were performed, and 15 cases of CHD were diagnosed in utero. Coarctation of the aorta (CoA); CoA and ventricular septal defect (VSD); double-outlet right ventricle; corrected transposition of the great arteries (cTGA); vascular ring; TGA; persistent left superior vena cava and VSD; dysplastic tricuspid valve; VSD and tricuspid atresia; mitral valve atresia, CoA, VSD, and pulmonary valve stenosis (PS); 2 as complete atrioventricular canal defect; and 3 as isolated VSD. Among the 15 cases, 6 were diagnosed by 4-chamber view and 8 by additional outflow tract view. There were 20 falsenegative cases. Tetralogy of Fallot; PS; VSD with bicuspid aortic valve; and 16 as isolated VSD. These 20 cases did not need critical care during the early neonatal period. Conclusion: Our prenatal heart-screening program is clinically feasible to detect CHD. Reexamination in the third trimester may contribute to the diagnosis of CHD.
Background: The prenatal diagnosis of congenital heart disease (CHD) has been increasing rapidly in recent years in Japan.This study sets out to understand the psychological impact and needs of mothers diagnosed with this condition. Method: We focused on mothers who had a prenatal diagnosis of fetal CHD and are currently visiting the hospital for treatment.Six hospitals across Japan are involved in this study. We used the Japanese version of the Parenting Stress Index (PSI) and a requirements analysis created specifically for this study, both of which are multiple choice and free text questionnaires. The study is approved by each institutionʼs Ethical Review Board. Results: A total of 241 returned questionnaires were analyzed in this study. The PSI score was high in the category of "feeling there is a problem with the child" and "discouragement after hospital discharge" (i.e. the mother felt highly stressed). On the other hand, the score was low for "relationship with the husband". Also, the mothers whose PSI score was high significantly required "attendance of staff other than doctors" (P = 0.023). They also significantly required "being able to request help (consult) when anxious" (P = 0.029) and "peer counseling" (P = 0.048). There was no significant difference in the PSI score of mothers with children affected by severe CHD. Conclusions: Mothers who had a prenatal diagnosis subsequently showed a high degree of stress on account of their feelings regarding the childʼs condition. On the other hand, it was inferred that the relationship with their husband was good as child care was carried out jointly. Also, the mothers under a lot of stress need staff or peer counselors whom they can talk to during or after the examination. It was found that the severity of the CHD is not proportional to the degree of their stress. The study revealed the details of diagnosed mothersʼ stress and requirements. We hope therefore that it will be useful for supporting mothers who receive a prenatal diagnosis.
Background: Although pregnancy and delivery are important issues in adults with congenital heart disease (ACHD), pediatric cardiologists may be facing difficulties in providing sufficient patient education on sexual activities. Objective: To elucidate current problems and future challenges regarding preconception counseling in ACHD. Methods: We reviewed medical records of female ACHD older than 14 years who visited our outpatient clinic for routine clinical follow-up from January 2011 to December 2011. The collected data included diagnoses, surgical histories, symptoms, physical examination findings and the presence of documentation on patientsʼsexual behavior and the chosen contraceptive methods. Results: Of the 21 patients included in this study, neither sexual behavior nor the chosen contraceptive methods were documented on 13 patients (62.0%). Four patients (19.5%) were interviewed on sexual behavior, but received no advice on contraception. Contraceptive methods were chosen upon interview result in only 4 patients (19.5%), which included barrier method in 2 patients and ultra-low-dose oral contraceptives in 2 patients. Not all patients with higher maternal cardiovascular risk scores received adequate patient education on sexual activities. Conclusion: Preconception counseling by pediatric cardiologist for female ACHD was insufficient in our university hospital setting. An interdisciplinary approach including cardiologists, obstetricians, nurses, and midwives would be helpful for effective ACHD patient education on sexual activities.
Two male siblings (13 and 11 years old) without Williamʼs syndrome were referred for surgical enlargement for severe supra valvular aortic stenosis (SVAS). The stenosis was most prominent at the sinotubular junction (STJ) and severe aortic wall thickness with elastic hard spread widely from the STJ into the ascending aorta in both cases. Since both coronary artery orifices located next to the STJ and the commissure between the two orifices, the non-coronary sinus of Valsalva was the only to be excised. To avoid use of artificial maerial, modified simple sliding aortoplasty was performed. The procedure consisted of transection of the ascending aorta at the stenotic STJ, a vertical incision made into the non-coronary sinus of Valsalva perpendicular to aortic valve annulus, another vertical incision made into the minor curvature of the distal stamp of the ascending aorta, and direct approximation of the two aortic ends. After this simple repair, the pressure gradient across the ST was significantly reduced in both cases. The two boys returned to daily life without any restrictions. Long term follow-up is necessary to warrant benefits of this procedure.
Hypereosinophilic syndrome is a rare condition defined as persistent eosinophilia (>1,500 cells/mm3) without a primary cause.Cardiac involvement such as valve insufficiency occurs in more than 75% of patients with this syndrome. The reports of adult patients with valve insufficiency related to this syndrome exist, but no pediatric patients are reported. Herein is reported the case of a pediatric patient suffered from repeated obstructive valve thrombosis suspected to be associated with hypereosinophilic syndrome. Case: Four-years-old girl with polysplenia, SA, CAVSD (Rastelli C), azygous continuation of IVC, and congenital biliary atresia received PA banding at 1 month, Kasai operation at 2 months, and CAVSD repair at 1 year and 1 month. Left atrioventricular valve replacement (lt. AVVR) was performed at 4 years of age due to the persistent left atrioventricular regurgitation. Inspite of oral anticoagulation, the patient developed 5 recurrences of valve thrombosis, required 2 thrombolysis therapy sessions and 3 emergency operations. Blood examination showed elevation of eosinophil count to 6000-8000/mm3 from 60/mm3 preoperatively. The hypereosinophilia was strongly suspected as the cause of repeated valve thrombosis. We suspected the antibiotics as the cause of hypereosinophilia, and stopped administration 1 month after re-re-lt. AVVR. The eosinophil count was gradually normalized to 1000/mm3 and she was discharged in good condition.
We present a case of a female infant with mitochondrial disease histologically proved histiocytoid cardiomyopathy (hcCMP).She was born full-term but small for gestational age. She could not suck well and had high serum lactate levels.Echocardiography performed just after birth revealed normal left ventricular contractility at rest, but showed impaired systolic and diastolic function at crying. She initially had characteristic features of left ventricular non-compaction, but thereafter turned to have hypertrophic cardiomyopathy (HCM). At 4 months of age, she developed encephalopathy. Clinical signs and symptoms led us to suspect mitochondrial disease. In spite of treatments with coenzyme Q10, creatin, vitamins B, C, and E, and carnitin, she showed severe acidosis at 6 months of age. She deteriorated and died at 7 months of age because of multiple organ failure.At autopsy, the macroscopic-view showed hypertrophied cardiac muscle, with marked disseminated yellowish areas and hypertrabeculation. The microscopic-view of the myocardium was characterized by histiocyte-like cells with foamy or granular cytoplasm. The electron microscopic-view showed ballooning of mitochondria and decreased density of cristae. The diagnosis of hcCMP was made by these findings. Measurements of enzyme activities of mitochondorial respiratory chain proved deficiency of ComplexⅠ in the liver and in the skeletal muscle, as well as deficiencies of ComplexⅠ and Ⅳ in the cardiac muscle, by which the diagnosis of mitochondrial disease was made. Histological tests eventually revealed the diagnosis of hcCMP in this case, which was compromised by the transition from left ventricular non-compaction to hypertrophic cardiomyopathy. The biochemical and the histological examination were useful for proper diagnosis for the metabolic disorder of this case.