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Congenital Heart Malformations (congenital + heart_malformation)

Distribution by Scientific Domains

Medical Sciences	50%
Life Sciences	50%

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]

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]

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 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]