Prenatal Diagnosis of Severe Aortic Stenosis

We sought to identify echocardiographic markers that might be useful for managing fetuses with significant aortic stenosis. The study was a retrospective review of fetal echocardiographic studies and postnatal outcomes of all fetuses diagnosed with significant aortic stenosis who did not have a hypoplastic left ventricle on the initial echocardiogram. Where possible, fetal echocardiographic measurements included the aortic, mitral, pulmonary, and tricuspid valve annulus sizes; left ventricular dimensions and volume; septal and left ventricular wall thicknesses; and echocardiographic Doppler interrogation of the left heart and oval fossa. Observations also included an assessment of ascites, pericardial effusion, and endocardial fibroelastosis. Prenatal measurements were compared to postnatal outcomes. Four patients (group 1) had either clinically successful relief of their aortic obstruction (n= 3) or required no intervention (n= 1). Five fetuses evolved to the hypoplastic left heart syndrome (group 2). These infants demonstrated little or no growth in left ventricular, aortic valve, or mitral valve dimensions on serial examination. They also more often exhibited mitral stenosis, severe restriction of interatrial shunting, and early to mid second trimester left ventricular dilatation. Serial measurements of fetal cardiac size and function are helpful for predicting the postnatal outcome of fetuses with aortic stenosis.     

超声心动图测定心内膜弹力纤维增生症患儿左室壁应力

以Ｍ型超声心动图测定的左室内径及室壁厚度、结合袖带血压计测量的收缩血压，计算了１６例原发性心内膜弹力纤维增生症患儿的左室周壁瞬间室壁应力。结果显示：原发性心内膜弹力纤维增生症患儿的室壁应力明显高于正常对照组，其中应力指数Ⅱ与左室短轴缩短速率（ｍＶｃｆｃ）呈负相关。提示：应用无创性方法测得的小儿原发性弹力纤维增生症的左室壁应力有助于诊断。     

左室收缩功能正常的左冠状动脉异常起源于肺动脉患儿的超声诊断13例病例系列报告

目的:探讨左室收缩功能正常的左冠状动脉异常起源于肺动脉(ALCAPA)患儿的超声心动图特点。方法:回顾性分析2010年1月至2019年12月广州市妇女儿童医疗中心收治并经手术证实的13例左心室射血分数（LVEF）≥55%的ALCAPA患儿的超声心动图特征和临床资料。结果:13例ALCAPA患儿均可见右冠状动脉增宽,其他超声征象包括左冠状动脉血流逆灌12例、左冠状动脉直接开口于肺动脉9例、肺动脉内逆灌血流7例、心肌侧枝血流8例、左室明显增大8例、二尖瓣功能不全7例、左室心内膜纤维化5例。<1岁ALCAPA患儿的心肌侧枝血流信号不明显,左心室大小正常或轻度增大且二尖瓣功能良好;≥1岁患儿可见丰富侧枝血管、左室明显扩大以及二尖瓣功能不全。4例误诊的ALCAPA左冠状动脉均起源于肺动脉右后方。结论:超声心动图可准确诊断左室收缩功能正常的ALCAPA,如果超声科医生在怀疑该诊断时能全面探查冠状动脉的起源和血流方向,可减少漏诊和误诊。     

Endocardial fibroelastosis of the left ventricle in a patient with Alagille syndrome

We present a case of a 6 week old infant with Alagille syndrome. Cardiological evaluation revealed peripheral pulmonary arterial stenosis and left ventricular endocardial fibroelastosis. While peripheral pulmonary arterial stenosis are typical for the syndrome this is the first case reported with endocardial fibroelastosis. Complex cardiac malformations may worsen the prognosis in Alagille syndrome. They require early diagnosis and therapy.     

Cardiac Contractility Modulation in a Model of Repaired Tetralogy of Fallot: A Sheep Model

The onset of right ventricular dysfunction in patients presenting with congenital heart disease is associated with a dismal long-term outcome and often represents a therapeutic dead end. Our study had several objectives: (1) to analyse the anatomical, functional, histological and cellular characteristics of an animal model of repaired tetralogy of Fallot with right ventricular dysfunction (2) to test the new electrical treatment known as cardiac contractility modulation in this animal model. Seven sheep underwent a first surgery at the age of three weeks aiming to mimic the characteristics of a repaired tetralogy of Fallot. Five controls were sham-operated. Experimental studies were performed 12 months after the initial operation. The hemodynamic, echocardiographic, and mitochondrial function studies were carried out before and after cardiac contractility modulation in closed- and open-chest conditions. In this animal model of right ventricular dysfunction, short-term cardiac contractility modulation was associated with a significant improvement in (a) right ventricular function, as evidenced by a significant increase in right ventricular dP/dt (p < 0.05) (b) left ventricular function evidenced by the increase in left ventricular dP/dt max (p < 0.05) (c) in mitochondrial function (p < 0.05). In this animal model of chronic right ventricular dysfunction, cardiac contractility modulation significantly improved acute cardiac hemodynamic and mitochondrial functions of both ventricles and may represent a promising option in patients with right heart failure.     

Mucopolysaccharidosis I presenting with endocardial fibroelastosis of infancy

We describe two female infants with Hurler syndrome (mucopolysaccharidosis I) whose deaths are attributed to cardiac failure with associated, autopsy-confirmed endocardial fibroelastosis. One infant had confirmed alpha-L-iduronidase deficiency in cultured dermal fibroblasts, and the other infant had histologic evidence of tissue mucopolysaccharide accumulation at autopsy and a sibling with confirmed alpha-L-iduronidase deficiency and the Hurler syndrome phenotype. Clear cells ("Hurler" cells) were identified within the myocardium and endocardium of both infants. We propose that the ventricular mural accumulation of mucopolysaccharides induced extensive proliferation of elastic or collagen fibers within the endocardium. Cardiac failure may precede recognition of clinical and roentgenographic features of Hurler syndrome. Our findings and a literature review suggest that certain heritable storage disorders, including mucopolysaccharidosis I, should be considered when infants have clinical electrocardiographic and echocardiographic findings consistent with endocardial fibroelastosis or have autopsy-documented endocardial fibroelastosis.     

Cardiovascular effects of a phosphodiesterase III inhibitor, amrinone, in infants: Non-invasive echocardiographic evaluation

OBJECTIVE: The inotropic effect of amrinone is still controversial in management of congestive heart failure in pediatric patients, especially in infants. In order to determine the cardiovascular effect of amrinone in pediatric patients, we performed echocardiographic evaluation in 11 infants (mean age of 2 months) after intracardiac surgery. METHODS: Amrinone was loaded with a dose of 1.0 mg/kg, followed by continuous infusion with 10 microg/kg per min. We performed echocardiographic measurements before and immediately after loading of amrinone, and evaluated its cardiovascular effect. RESULTS: After loading of amrinone, the heart rate increased by 5% in average, but there was no change in blood pressure. Left ventricular (LV) fractional shortening and mean velocity of circumferential fiber shortening corrected for heart rate increased significantly (0.25 +/- 0.09 to 0.28 +/- 0.08 and 0.94 +/- 0.35 to 1.10 +/- 0.34, respectively). Left ventricular end-systolic wall stress decreased from 36.6 +/- 18.5 to 29.1 +/- 14.4 g/cm2, indicating the reduction of LV afterload. Stress-velocity index, a sensitive index of left ventricular contractility, was elevated significantly (Z-score: -1.45 +/- 4.21 to 0.04 +/- 4.11). CONCLUSION: Amrinone has not only vasodilative effects, but definite positive inotropic effects in infants with heart failure.     

Isolated noncompaction of the ventricular myocardium

Noncompaction of the ventricular myocardium is a rare congenital disorder characterized by the presence of numerous prominent trabeculations and deep intertrabecular recessess which communicate with the left ventricular cavity. The disease uniformly affects the left ventricle, and sometimes also affects the right ventricle. Echocardiographic findings are important clues for the diagnosis. Clinical symptoms include signs of left ventricular systolic dysfunction even to the point of heart failure, ventricular arrhythmias, and embolic events. We describe an illustrative case of isolated noncompaction of the left ventricular myocardium in a two-year-old child with the typical clinical and echocardiographic features of the disease. The literature on the topic is reviewed.     

Spontaneous Prenatal Ductal Closure: Postnatal Diagnosis?

Prenatal ductal constriction and closure usually are related to maternal intake of prostaglandin receptor inhibitors during late gestation but may occur spontaneously. This report describes three live-born infants sharing echocardiographic features of spontaneous intrauterine ductal constriction, closure, or both, although only one had a prenatal diagnosis. Interestingly, in addition to severely hypertrophied right ventricles, all three had hyperechogenic tricuspid valve papillary muscles. Two also had mild ascending aorta dilation. These cases raise mechanistic questions because of intrauterine ductal occlusion, bright papillary muscles, and potential dilated ascending aortas.     

Left ventricular pannus causing inflow obstruction late after mitral valve replacement for endocardial fibroelastosis

A case of mitral stenosis following mitral valve replacement in a patient with endocardial fibroelastosis is reported. A 14-year-old boy presented with cardiac failure. He had been diagnosed as having endocardial fibroelastosis at the age of 7 months and had undergone resection of endocardial fibrous tissue in the left ventricle at that time. Five years later his mitral valve was resected owing to mitral stenosis, with Bjork-Shiley valve replacement. Cross-sectional echocardiography on this admission showed restrictive left ventricular inflow due to a thickened immobile prosthetic valve with severely dyskinetic left ventricle (ejection fraction 8%). The electrocardiogram showed atrioventricular reentry tachycardia. Despite direct current cardioversion and continual amiodarone infusion he suffered a cardiac arrest and died 12 days after admission. Postmortem examination showed left ventricular endocardial fibroelastosis with severe inflow obstruction due to the formation of a complete fibrous ring of pannus/fibrosis around the prosthetic margin on the ventricular aspect of the left ventricle. This complication has not previously been described in children after mitral valve replacement.     

AUTOPSY FINDINGS IN THE WOLCOTT-RALLISON SYNDROME

Wolcott-Rallison syndrome is a rare autosomal recessive condition characterized by diabetes mellitus arising in early infancy and multiple epiphyseal dysplasia. To date, nine cases have been described in the world literature. We report an affected girl who died at the age of 4 years and on whom a full autopsy was performed. In addition to neonatal diabetes mellitus and epiphyseal dysplasia, this child had mental retardation and recurrent episodes of self-limiting hepatic failure. Autopsy revealed severe pancreatic hypoplasia and markedly abnormal pancreatic histology, while histology of the bone was consistent with epiphyseal dysplasia. There was laryngeal stenosis and pulmonary hypoplasia. The heart was enlarged with mitral valve dysplasia and stenosis, left atrial dilatation, left ventricular hypertrophy, and endocardial fibroelastosis. Examination of the central nervous system showed arrhinencephaly and cerebellar cortical dysplasia. The liver showed minor histological abnormalities but no features were present to account for the recurrent hepatic failure. In addition to Wolcott-Rallison syndrome this child had a deletion at 15q11-12 in 65 of her cells.     

Cardiac output in newborn infants with transient myocardial dysfunction

Decreased cardiac output is a common presumption in left ventricular myocardial dysfunction in neonates, but because of a lack of reliable noninvasive techniques, data on cardiac output are missing. We measured cardiac output by pulsed Doppler echocardiography in 22 newborn infants with left ventricular myocardial dysfunction diagnosed by M-mode echocardiography. Eleven neonates had severe perinatal asphyxia, seven had tachypnea, two hypoglycemia, and one septic shock; one had no symptoms. Right ventricular function was abnormal in 13 of the 22 infants. Hypotension was found in eight; cardiac output and stroke volume were low in 20. The abnormalities were more pronounced in infants with asphyxia. Six such infants were given dopamine (4 to 10 micrograms/kg/min). Within 1 hour, arterial blood pressure, cardiac output, stroke volume, and heart rate increased sharply, with normalization of the myocardial contractility; the other echocardiographic abnormalities normalized over 24 to 48 hours. Pulsed Doppler echocardiography is an advance in the detection and evaluation of therapy for left ventricular myocardial dysfunction in the neonate.     

Transcarotid Balloon Valvuloplasty with Continuous Transesophageal Echocardiographic Guidance for Neonatal Critical Aortic Valve Stenosis: An Alternative to Surgical Palliation

Neonatal critical aortic valve stenosis is a life-threatening malformation if untreated. Before the late 1980s, the preferred treatment was surgical valvotomy; however, operative mortality was high. Early reports of transcatheter balloon dilation were encouraging, although femoral artery damage and aortic valve insufficiency were procedural limitations. With new balloon catheter technology, transumbilical, transvenous, and transcarotid approaches have been advocated, although a comparison with recent surgical results has not been performed. We compared all neonates who presented to our institution since 1985 with the diagnosis of critical aortic stenosis. Ten patients underwent surgical transventricular valvotomy and 13 patients underwent balloon valvuloplasty via a right carotid cutdown with continuous transesophageal echocardiographic guidance. Prior to intervention, all patients had either left ventricular dysfunction, an aortic valve gradient >100 mmHg, significant mitral valve insufficiency, and/or ductal dependent systemic blood flow. All patients had successful relief of aortic valve obstruction with normalization of left ventricular function and successful discontinuation of prostaglandin E₁. Use of continuous transesophageal echocardiographic guidance resulted in fluoroscopic exposure of only 12 ± 8 minutes. At the latest follow-up, a similar proportion of patients has required additional aortic valve procedures (38% vs 25%) and overall mortality (20% vs 15%) is similar. In the transcarotid group, 9 of 13 patients (69%) have a normal appearing right carotid artery by Duplex imaging, and no neurologic events have been reported. Balloon aortic valvuloplasty via a right transcarotid approach is safe, simplifies crossing the valve, and is effective for the initial palliation of neonatal critical aortic stenosis. The use of transesophageal echocardiographic guidance reduces fluoroscopy exposure, enables accurate assessment of hemodynamics without catheter manipulation or angiography, and avoids femoral artery injury.     

Extent of myocardial noncompaction: comparison between MRI and echocardiographic evaluation

Background: Noncompaction of the left ventricular myocardium is an important cause of cardiomyopathy. There is no clear consensus about its diagnostic criteria or the diagnostic test of choice. MRI is increasingly used in the pediatric cardiac field because of its superior and objective image quality. Objective: To compare the echocardiographic and MRI findings in four patients with recently diagnosed ventricular noncompaction. Materials and methods: We compared the extent of myocardial involvement shown at MRI and echocardiography in four individuals, two patients with echocardiographic diagnosis of left ventricular noncompaction, and two family members of one of the patients. Results: In all patients, MRI showed wider area of involvement than echocardiography. A definite diagnosis was entertained in only two patients by echocardiography but in all by MRI. Cine imaging was diagnostic of the disease in all patients. Black-blood pool imaging with double-inversion recovery sequence also helped to visualize the abnormal areas by showing slow flow artifacts in the four- and two-chamber images. Conclusion: MRI provided better delineation of the extent of the abnormal trabeculation in patients with noncompaction of the left ventricular myocardium. It was particularly useful when the myocardial involvement was subtle, as in the asymptomatic family members.     

Echocardiographic changes and risk factors for left ventricular hypertrophy in children and adolescents after renal transplantation

Long-term consequences of cardiac alteration in children with chronic renal failure and after renal transplantation are largely unknown. In chronic uremia, cardiomyopathy manifests itself as systolic dysfunction, concentric left ventricular hypertrophy (LVH) or left ventricular dilatation. The correction of uremic state by renal transplantation leads to normalization of left ventricular contractility, regression of LVH and improvement of cavity volume and so dialysis patients with uremic cardiomyopathy would benefit from renal transplantation. We studied 73 patients, aged 17 yr or less, who underwent renal transplantation in our center. This cross-sectional study was performed 4.6 yr (median) after transplantation. Of the total, 48 were males and 25 were females. Transthoracic echocardiographic examination was performed for all cases. The effects of clinical, demographic, biochemical and therapeutic data on echocardiographic parameters were assessed. Multivariate analysis was used to assess the relation between the risk factors and the left ventricular muscle mass index. The most common echocardiographic abnormalities were the LVH (47.9%), left atrial enlargement (31.5%) and left ventricular dilatation and systolic dysfunction (13.7% for each). The pretransplant dialysis, arteriovenous fistula, acute rejection, cumulative steroid dose per square meter surface area, post-transplant hypertension, anemia and graft dysfunction were significant risk factors for LVH by univariate analysis. The significant factors by multivariate analysis were pretransplant dialysis, post-transplant hypertension and anemia. From this study we may conclude that LVH is a common problem among renal transplant children and adolescents. Early transplantation, control of hypertension and correction of anemia may be beneficial regarding left ventricular function and structure.     

Anomalous origin of the left coronary artery from the pulmonary artery. Variability of clinical aspects, echocardiography and angiography findings]

OBJECTIVES: Analysis of symptoms, diagnostical difficulties and follow-up in infants and children with anomalous origin of the left coronary artery from the pulmonary artery. METHODS: Retrospective study; 12 children between 3 weeks and 2 years old; time period: 1980-1991. RESULTS: Three infants were detected on routine examination because of a new cardiac murmur, the others presented with signs of cardiac failure. Cross sectional echocardiography and color Doppler flow mapping allowed to verify the suspected diagnosis. However, in one infant a false-negative cross sectional echocardiographic result was obtained. In this case nuclear magnetic resonance imaging was able to delineate the exact anatomy. Mean preoperative left ventricular ejection fraction: 33 +/- 4%; percentage of infants below the age of 6 months: 92%; surgery related mortality: 66%; mean follow-up of the remaining 4 patients being in good clinical condition: 2.9 +/- 1 years. CONCLUSIONS: 1. An anomalous origin of the left coronary artery should be included into the differential diagnosis when a new cardiac murmur is detected. 2. Possibility of false-negative echocardiographic results is emphasized. 3. With early symptoms and highly reduced left ventricular function, the mortality is still high.     

Echocardiographic load-independent indices of contractility in children and adolescents with type I diabetes: Effect of metabolic control and insulin on left ventricular performance

A case-control study was carried out in a tertiary referral teaching hospital to evaluate left ventricular contractility in children and adolescents with type 1 diabetes and to study factors influencing left ventricular contractility. Thirty-four children and young adults with type 1 diabetes (age 10.8–21.8 years) were randomly selected from approximately 400 patients of the same age range in the outpatient department and compared with 16 nondiabetic controls (age 7.3–21.2 years). The relation of end-systolic wall stress to velocity of circumferential fiber shortening as a standard deviation score (SDS) from the normal range described by Colan et al. was used to assess left ventricular contractility. In the diabetic group the effect of age, duration of diabetes, metabolic control, insulin dose, and autonomic function on left ventricular contractility were studied. It was found that the end-systolic wall stress-velocity of circumferential fiber shortening relation was not different between diabetic subjects and controls [+0.52 (SEM 0.21) vs +0.90 (SEM 0.26) SDS,p=0.3]. In the diabetic subjects, the end-systolic wall stress-velocity of circumferential fiber shortening relation was positively correlated with glycated hemoglobin (r=0.37,p=0.03) and insulin dose per kilogram of body weight (r=0.36,p=0.04). Those two variables together explained 24% of the variability in the end-systolic wall stress-velocity of circumferential fiber shortening relation. Twenty-eight of the diabetic subjects were also assessed for cardiac autonomic function. Disturbances of cardiac autonomic function were not associated with increased contractility. It is concluded that left ventricular contractility assessed by load-independent echocardiographic indices was not different between children and adolescents with type 1 diabetes and controls. However, increased contractility was positively related to unfavorable metabolic control and higher insulin dose.     

儿童冠状动脉疾病32例临床分析

目的探讨儿童冠状动脉疾病的病因分布及临床特点,以提高诊断和治疗儿童冠状动脉疾病水平。方法回顾性分析2008年7月至2011年12月在首都医科大学附属北京安贞医院儿童心脏中心收治的冠状动脉疾病患儿（不包括复杂心脏畸形合并冠状动脉异常者）的临床资料,分析临床表现、辅助检查、诊断方法和治疗。结果32例冠状动脉疾病患儿进入分析,男20例,女12例,年龄1个月至18岁。经ECG、超声心动图、64排CT和心导管造影检查明确诊断。左冠状动脉异常起源于肺动脉10例(31.2%),8例以心力衰竭起病,其中长期误诊为“心内膜弹力纤维增生症”4例,“扩张性心肌病”1例,“二尖瓣重度关闭不全”2例,均行外科手术移植左冠状动脉,1例术后死亡,余9例术后随访临床症状好转,左室缩小,二尖瓣反流减轻;冠状动脉瘘13例(40.6%),9例以心脏杂音、4例以心力衰竭起病,外科手术行瘘缝扎或补片治疗12例,介入治疗1例,术后随访仅1例存在少量残余分流;川崎病并发冠状动脉瘤6例(18.8%),出现左心扩大、心肌缺血征象,予长期抗凝等治疗;家族性高胆固醇血症3例(9.4%),表现为冠状动脉粥样硬化性心脏病,予降胆固醇、改善心肌缺血等药物及饮食控制治疗,随访病情尚稳定,无明显加重。结论儿童冠状动脉疾病少见,先天性包括左冠状动脉异常起源于肺动脉和冠状动脉瘘,后天性以高胆固醇血症和川崎病累及冠状动脉多见,对于有左心扩大和心肌缺血表现者,应重视冠状动脉疾病的可能,早期诊断、合理治疗是改善预后的关键。     

An uncommon echocardiographic marker for anomalous origin of the left coronary artery from the pulmonary artery: visualization of intercoronary collaterals within the ventricular septum

A rare and striking echocardiographic finding with color-flow Doppler—visualization of intercoronary collaterals within the ventricular septum—in an asymptomatic 5-year-old girl is reported. It strongly suggests anomalous origin of the left coronary artery from the pulmonary artery. Several additional echocardiographic features can secure the diagnosis and allow one to proceed with surgical correction without confirmatory cardiac catheterization and angiocardiography. The ages of our patient and of the seven cases reported previously suggest that these collaterals will more likely be identified beyond infancy and in relatively asymptomatic patients with this congenital anomaly.