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Heart Malformations (heart + malformation)

Distribution by Scientific Domains

Medical Sciences	60%
Life Sciences	40%

Kinds of Heart Malformations

congenital heart malformation

Selected Abstracts

Device Closure of Congenital Ventricular Septal Defects

CONGENITAL HEART DISEASE, Issue 2 2007
Karim A. Diab MD
ABSTRACT Ventricular septal defect is the most common congenital heart malformation. Surgical closure, when indicated, has been practiced for over 50 years with good results; however, surgical closure is still associated with significant morbidity and mortality. Over the past decade, several occluding devices have been developed that made catheter device closure an attractive alternative to surgery with widely satisfactory results. In this article, a comprehensive review of percutaneous and perventricular (hybrid) device closure of each type of ventricular septal defect is presented. [source]

Genetics of atrioventricular conduction disease in humans

THE ANATOMICAL RECORD : ADVANCES IN INTEGRATIVE ANATOMY AND EVOLUTIONARY BIOLOGY, Issue 2 2004
D. Woodrow Benson
Abstract Atrioventricular (AV) conduction disease (block) describes impairment of the electrical continuity between the atria and ventricles. Classification of AV block has utilized biophysical characteristics, usually the extent (first, second, or third degree) and site of block (above or below His bundle recording site). The genetic significance of this classification is unknown. In young patients, AV block may result from injury or be the major cardiac manifestation of neuromuscular disease. However, in some cases, AV block has unknown or idiopathic cause. In such cases, familial clustering has been noted and published pedigrees show autosomal dominant inheritance; associated heart disease is common (e.g., congenital heart malformation, cardiomyopathy). The latter finding is not surprising given the common origin of working myocytes and specialized conduction system elements. Using genetic models incorporating reduced penetrance (disease absence in some individuals with disease gene), variable expressivity (individuals with disease gene have different phenotypes), and genetic heterogeneity (similar phenotypes, different genetic cause), molecular genetic causes of AV block are being identified. Mutations identified in genes with diverse functions (transcription, excitability, and energy homeostasis) for the first time provide the means to assess risk and offer insight into the molecular basis of this important clinical condition previously defined only by biophysical characteristics. © 2004 Wiley-Liss, Inc. [source]

Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11))

CLINICAL ENDOCRINOLOGY, Issue 6 2010
Stefano Stagi
Summary Introduction, Monoallelic microdeletion of chromosome 22q11 (22q11DS) is considered to be the commonest human microdeletion syndrome. Abnormalities of thyroid function are sporadically reported in this syndrome, but very few studies have specifically assessed this issue, and thyroid morphology has not been systematically studied. Design, To evaluate the prevalence of abnormalities of thyroid function and morphology in a cohort of paediatric and adult patients with 22q11DS. Methods, Thirty patients with 22q11DS (median age 9·7, range 1·5,43·9 years) were studied. In all subjects, serum free-T3, free-T4, TSH, thyroperoxidase, thyroglobulin, and TSHr auto-antibodies, as well as thyroid ultrasonographic data, were evaluated and compared with age- and sex-matched healthy control groups, for paediatric and adult patients. Results, Fourteen (46·6%) patients showed thyroid hypoplasia involving the entire gland. In all the patients, the volume of the left lobe of the thyroid was significantly reduced (P < 0·01). Among the subjects with thyroid hypoplasia, 10 out of 14 (71%) showed a concomitant heart malformation, a condition that was present in five (31%) of the subjects with a normal thyroid volume (P < 0·05). Seven (23·3%) cases of subclinical hypothyroidism and one (3·3%) case of overt hypothyroidism were identified. Three (10%) patients were positive for thyroid auto-antibodies. Of the patients with overt and subclinical hypothyroidism, five out of eight (62·5%) patients showed thyroid hypoplasia. Conclusions, This study confirms the presence of alterations of thyroid function in 22q11DS, and also suggests a frequent occurrence of abnormalities in thyroid morphology in these subjects. Patients with 22q11DS should be monitored for thyroid function, and thyroid ultrasound screening should be considered, especially in those patients with changes in thyroid function or congenital heart malformations. The possible relationship between developmental abnormalities in the heart and the thyroid gland should be confirmed. [source]

Genetic factors in congenital heart malformation

CLINICAL GENETICS, Issue 6 2008
G Andelfinger
Congenital heart disease is the commonest malformation in humans and contributes greatly to the burden of disease in infancy. Increasingly, developmental origins are also implicated in heart disease in adults. Significant advances have been made over the past decade in elucidating morphogenetic events of heart formation and their underlying molecular cascades, mostly in animal models. Clinical studies are increasingly successful in quantifying and unraveling genetic factors. This review focuses on recent progress made in understanding the genetic underpinnings of normal and abnormal heart formation and highlights the importance of understanding these mechanisms to improve patient management. [source]

Intraoperative extracorporeal membrane oxygenation and survival of pediatric patients undergoing repair of congenital heart disease

PEDIATRIC ANESTHESIA, Issue 8 2008
RANDALL P. FLICK MD
Summary Background:, We studied the association between the introduction of extracorporeal membrane oxygenation (ECMO) into routine practice and the survival of children who failed weaning from cardiopulmonary bypass (CPB). We compare two periods, before formal introduction of ECMO in our institution (1993,1999, pre-ECMO era) and after ECMO became a formalized program (2000,2006, ECMO era). Methods:, Retrospective review of Mayo Clinic Database between 1993 and 2006 for outcomes of patients <18 years old who required ECMO during repair of congenital heart malformations. Results:, Thirty-five children during ECMO era received intraoperative ECMO, and 17 (54%) survived to hospital discharge. The frequency of ECMO use was the highest in neonates, therefore, this was the only subcohort of pediatric patients that allowed comparison of survival between the pre-ECMO and ECMO eras. When compared to pre-ECMO era, neonatal survival increased during ECMO era (P = 0.043). ECMO was mostly used in neonates with higher complexity of cardiac defects undergoing more complex repairs, and the overall improvement of survival was primarily due to better survival of these patients. During pre-ECMO era, survival was lower in patients with higher risk (P = 0.001). However, during ECMO era, no difference in survival was observed across assigned risk groups (P = 0.658). Conclusions:, The availability of ECMO for neonates failing to wean from CPB was associated with improved survival, especially in children undergoing repair of the most complex congenital heart malformations. After introduction of ECMO, survival improved and no longer depended upon the complexity of surgical repair. [source]

Molecular epidemiology of rubella virus in Asia: Utility for reduction in the burden of diseases due to congenital rubella syndrome

PEDIATRICS INTERNATIONAL, Issue 2 2004
Shigetaka Katow
AbstractBackground:,Rubella is a mild disease mainly of infants, involving a rash and a fever. However, when women who have no immunity to rubella are infected during the early stage of pregnancy, their babies are often born with congenital rubella syndrome (CRS), which is characterized by a few disorders including deafness, cataracts and heart malformations. To prevent CRS, several strains of live attenuated rubella vaccine have been developed and introduced into immunization programs in many countries. In most Asian countries except Japan, Singapore and Taiwan, rubella remains uncontrolled, and the burden of diseases from CRS is high. In order to develop a control program to reduce the number of CRS cases in Asian countries, it is necessary to conduct a survey of rubella and CRS cases, and to then determine the genotype of the circulating rubella virus in each country. Methods:,Cases of rubella and CRS, based on national reporting systems or active surveillance in the Asian countries, are summarized. Sequences of the E1 gene of the virus isolates from the Asian countries were compared by phylogenic analysis. Results:,Recent studies of the molecular epidemiology of rubella virus worldwide revealed that there are two genotypes, and that genotype I is circulating almost worldwide, while genotype II is an Asian prototype restricted to the Asian continent. Genotype I viruses fall into a number of groups, some of which are geographically localized. Antigenically these two genotypes are cross-reactive and immunization with either virus results in immunity to all rubella viruses. Discussion:,The hypotheses that rubella virus has evolved on the Asian continent is proposed. The World Health Organization (WHO) has recognized that a rubella immunization program can be combined with the measles immuization program. Inclusion of rubella in the expanded program of immunization (EPI) of measles would be ideal in Asian countries, as it would be efficient and cost effective to administer one injection containing a three-combined vaccine (MMR). It would also be desirable given that WHO require laboratory tests to confirm the presence of measles or rubella as part of it's measles control project, because rubella is often misdiagnosed as measles. [source]

Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11))

Genetic factors in non-syndromic congenital heart malformations

CLINICAL GENETICS, Issue 2 2010
MW Wessels
Wessels MW, Willems PJ. Genetic factors in non-syndromic congenital heart malformations. The genetic defect in most patients with non-syndromic congenital heart malformations (CHM) is unknown, although more than 40 different genes have already been implicated. Only a minority of CHM seems to be due to monogenetic mutations, and the majority occurs sporadically. The multifactorial inheritance hypothesis of common diseases suggesting that the cumulative effect of multiple genetic and environmental risk factors leads to disease, might also apply for CHM. We review here the monogenic disease genes with high-penetrance mutations, susceptibility genes with reduced-penetrance mutations, and somatic mutations implicated in non-syndromic CHM. [source]

Development of the coronary vasculature and its implications for coronary abnormalities in general and specifically in pulmonary atresia without ventricular septal defect

ACTA PAEDIATRICA, Issue 2004
AC Gittenberger-de Groot
Aim: Coronary vascular anomalies are an important factor in congenital heart disease in the neonate. However, our knowledge of the pathomorphogenesis is still defective. Material and methods: 1) Study of coronary anomaly variations in congenital heart disease using specimens and 2) study of the role of epicardium-derived cells (EPDC) and neural crest cells in coronary vascular formation using quail-chicken chimeras. Results: The clinical and pathological data revealed the existence of ventriculo-coronary arterial communications during fetal life before pulmonary atresia was established. This supported a primary coronary developmental anomaly as the origin of some cases of pulmonary atresia as opposed to other cases in which the pulmonary orifice atresia was the primary anomaly. Our experimental work showed the high relevance of the development of the epicardium and epicardium-derived cells for the formation of the coronary vasculature, and showed the coronary vascular ingrowth into the myocardium and subsequently into the aorta and the right atrium. The absence of epicardium-derived cells leads to embryonic death, while delayed outgrowth could result in the absence of the main coronary arteries to pinpoint orifice formation. In these cases, the circulation was maintained through ventriculocoronary arterial communications. Neural crest cells were important for the patterning of the coronary vasculature. We have extended this knowledge to a number of other heart malformations. Conclusions: Coronary vascular anomalies are highly linked to the development of extracardiac contributors like the epicardium and the neural crest. A proper interaction between these cell types and the myocardium and aortic arterial wall are important for normal vascular development. [source]