Shanthi Sivanandam

A Trileaflet “Mitral Valve” with Three Papillary Muscles: Brand New Echocardiographic Finding

Congenital mitral valve malformations are rare, but are well known and described entities. Mitral valve malformations involve mitral valve apparatuses (leaflets and annulus) and subvalvar apparatuses (chordae and papillary muscle). Case reports of accessory mitral leaflets were already described, but were usually an appendix of the normal valve. We describe here a case report and present the images of a trileaflet mitral valve sustained by three papillary muscles in a young girl with subaortic stenosis.

A Trileaflet "Mitral valve" with three papillary muscles

Congenital mitral valve malformations are rare, but are well known and described entities. Mitral valve malformations involve mitral valve apparatuses (leaflets and annulus) and subvalvar apparatuses (chordae and papillary muscle). Case reports of accessory mitral leaflets were already described, but were usually an appendix of the normal valve. We describe here a case report and present the images of a trileaflet mitral valve sustained by three papillary muscles in a young girl with subaortic stenosis.

Identifying birth defects in automated data sources in the Vaccine Safety Datalink

The Vaccine Safety Datalink (VSD), a collaboration between the Centers for Disease Control and Prevention and several large healthcare organizations, aims to monitor safety of vaccines administered in the USA. We present definitions and prevalence estimates for major structural birth defects to be used in studies of maternal vaccine safety.

A Case of Fetal Diagnosis of Noncompaction Cardiomyopathy and Coarctation of the Aorta

Background Left ventricular noncompaction (LVNC) cardiomyopathy is a rare form of cardiomyopathy. It is difficult to diagnose prenatally and therefore not well described in the fetal population. There have been a few reports in the literature detailing isolated cases of fetal and neonatal LVNC cardiomyopathy. Case Report We present a case of LVNC cardiomyopathy and coarctation of the aorta detected prenatally at 29 + 6 weeks of gestation with survival in infancy. This is the first case report in the literature describing the fetal diagnosis of noncompaction cardiomyopathy and associated coarctation of the aorta; a rare combination. Conclusion  With a high index of suspicion, the antenatal diagnosis of noncompaction cardiomyopathy may improve neonatal morbidity and mortality.

Prenatal Diagnosis and Outcome of Fetuses with Double-Inlet Left Ventricle

The aim of this study is to characterize the in utero presentation of the subtype of double-inlet left ventricle (DILV), a rare congenital heart disease, and assess the postnatal outcome. We retrospectively studied fetuses diagnosed prenatally with DILV between 2007 and 2011. We reviewed the prenatal and postnatal echocardiograms, clinical presentations, karyotypes, and the postnatal outcomes. There were eight fetuses diagnosed with DILV with L-transposition of the great vessels (S, L, L). Mean gestational age at diagnosis was 24.7 weeks. Of these, four fetuses (50%) had pulmonary atresia. One fetus (12.5%) also had tricuspid atresia and coarctation of the aorta and died at 17 months of age. Complete heart block and long QT syndrome was present in one fetus (12.5%), who died shortly after birth. There were no extracardiac or karyotypic abnormalities. Six (75%) infants are alive and doing well. Double-inlet left ventricle with varied presentation can be accurately diagnosed prenatally. The outcome of fetuses is good in the absence of associated rhythm abnormalities with surgically staged procedures leading to a Fontan circulation.

Vanishing pulmonary valve stenosis

Objective: Both spontaneous resolution and progression of mild pulmonary valve stenosis (PS) have been reported. We reviewed characteristics of the pulmonary valve (PV) to determine factors that could influence resolution of mild PS. Methods: Fifteen asymptomatic pediatric patients with spontaneous resolution of isolated mild PS were retrospectively reviewed. Results: There was no correlation between the PV gradient, clinical presentation, age at diagnosis, or PV morphology. The PV annulus was small at initial presentation, which normalized at follow up. When corrected for the body surface area (z-score), the PV annulus was normal in all patients, including at initial evaluation. Conclusions: Based on our observation, neither age at diagnosis, nor PV-morphology-influenced resolution of mild PS. The variable clinical presentation makes it difficult to categorize and observe mild PS by auscultation alone. The PV annulus z-score could be a useful adjunct to determine the course and serial observation of mild PS.

Familial recurrence of congenital heart diseases

Familial recurrence of congenital heart disease (CHD), in particular, d-transposition of great arteries (d-TGA) is rare. However, there have been several reports in the literature of sibling recurrence of total anomalous pulmonary venous return (TAPVR). This is the first case report in the literature, describing mother to offspring recurrence of d-TGA. We describe two cases of non-syndromic CHD with mother to offspring and sibling recurrence. The first case is an antenatally diagnosed d-TGA on fetal echocardiogram at 25 weeks of gestational age in the offspring of a 30-year-old mother with d-TGA. The second case is a sibling reoccurrence of TAPVR diagnosed antenatally at 30 weeks of gestational age, with supradiaphragmatic TAPVR on fetal echocardiogram in a mother, whose first child was diagnosed with infradiaphragmatic TAPVR in infancy.

Fetal complete common atrioventricular canal defect: spontaneous closure of the ventricular septal defect--in utero anatomic evolution and postnatal outcomes.

Background: We describe in utero anatomic evolution and postnatal outcome of complete common atrioventricular canal defect (CCAVCD). Methods: Retrospective data on 31 fetuses with CCAVCD were analyzed. We reviewed prenatal and postnatal echocardiograms, karyotype, and postnatal outcomes. Results: A total of 20 fetuses had complete data, 18 with serial fetal echocardiograms and postnatal data and 2 terminations. At initial examination, isolated CCAVCD was seen in 12 (67%) fetuses while 6 (33%) were associated with heterotaxy syndrome. On follow-up, 4 fetuses (22%) had spontaneous closure of the inlet ventricular septal defect (VSD) component of the CCAVCD, seen both at 30 to 35 weeks of gestation and on postnatal echocardiograms. These 4 fetuses had previously demonstrated CCAVCD between 18 and 25 weeks of gestation. A total of 15 (83%) patients underwent operative correction, 10 with isolated complete atrioventricular septal defect and 5 with heterotaxy had surgical repair. Four infants in whom spontaneous intrauterine closure of the VSD component was observed had no VSD noted at surgery and underwent closure of primum atrial septal defect and repair of the left atrioventricular (AV) valve cleft. Conclusions: Our data demonstrate that CCAVCD diagnosed during fetal life is not a static anomaly. In our series, an inlet VSD less than 4 mm and Rastelli type A anatomy (AV valve attachment to septal crest) during second trimester may evolve during third trimester by formation of AV sulcus pouch and spontaneous closure of the VSD. To the best of our knowledge, this is the first study to report such anatomic evolution of CCAVCD in the fetus. This information is vital for appropriate counseling for expectant parents.

Uhl’s anomaly: perspective of fetal echocardiography and histopathological correlation

We report a case of Uhls anomaly imaged at 19 weeks of gestation by fetal echocardiography with pathological confirmation by anatomical gross heart specimen and tissue histology. Uhls anomaly of the right ventricle is a rare cardiac disorder with isolated right ventricular enlargement with almost complete absence of the right ventricular myocardium.

Growth Abnormalities of Fetuses and Infants

The objective of this special issue is to address recent research trends and developments about the advancements of image processing and vision in healthcare. A substantial number of papers were submitted, and after a thorough peer review process, some of these were selected to be included in this special issue. Growth abnormalities (either growth restriction or large for gestational age) during perinatal and postnatal life are a hot topic issue, since they are often linked to alteration of uterine environment caused by placental insufficiency, maternal metabolic syndrome, and in general under- or overnutrition of the fetus. These fetal abnormalities account for the leading causes of perinatal morbidity and mortality. Moreover, under the hypothesis of developmental origin of adult diseases, they bear consequences in later life, programming the infant physiology for a higher risk of noncommunicable diseases, cardiovascular adult diseases, and neurodevelopment delay. Low birth weight, caused either by preterm birth and/or by intrauterine growth restriction, is recently known to be associated with increased rates of cardiovascular disease and noninsulin dependent diabetes in adult life. The “developmental origins of adult disease” hypothesis, often called “the Barker hypothesis,” proposes that these diseases originate through adaptations of the fetus when it is undernourished. These adaptations may be cardiovascular, metabolic, or endocrine and they may permanently change the structure and function of the body, increasing coronary heart disease risk factors, such as hypertension, type 2 diabetes mellitus, insulin resistance, and hyperlipidaemia. This hypothesis originally involved from observation by Barker and colleagues that the regions in England with the highest rates of infant mortality in the early 20th century also had the highest rates of mortality from coronary heart disease decades later. As the most commonly registered cause of infant death at the start of 20th century was low birth weight, these observations led to the hypothesis that low birth weight babies who survived infancy and childhood might be at increased risk of coronary heart disease in later life. There is an increased evidence of the link between intrauterine and perinatal alterations and adult diseases. Although the main focus so far has been the timing of delivery and follow-up, the study of the pathophysiology and of possible recovery is of paramount importance and needs the contributions of physicians from several fields, biologists, bioinformaticians, and engineers.