Congenital Heart Defects

Jaw-winking or the Marcus Gunn phenomenon (MGP), a congenital uncommon condition characterized by involuntary elevation of a drooping upper eyelid concomitant with various movements of the mandible, is well-documented in medical literature, but very little information is available in dental literature. This is an interesting case report of a 17-year-old female with MGP, who reported for orthodontic treatment of her proclined upper anterior teeth, severe lower crowding, and mandibular micrognathia. Review of the literature revealed only two reported cases of dental anomalies in conjunction with MGP. The patient also gave a positive family history of MGP with a maternal cousin having a similar problem. Dentists and other oral health professionals can play a significant role in detection and diagnosis of this rare condition and should take protective measures during dental and oral surgical procedures.

Mental health outcomes for survivors of critical congenital heart disease (CHD) remain under-investigated. We sought to examine psychiatric disorders and psychosocial functioning in adolescents with single ventricle CHD and to explore whether patient-related risk factors predict dysfunction. This cohort study recruited 156 adolescents with single ventricle CHD who underwent the Fontan procedure and 111 healthy referents. Participants underwent comprehensive psychiatric evaluation including a clinician-rated psychiatric interview and parent- and self-report ratings of anxiety, disruptive behavior, including attention-deficit/hyperactivity disorder (ADHD), and depressive symptoms. Risk factors for dysfunction included IQ, medical characteristics, and concurrent brain abnormalities. Adolescents with single ventricle CHD had higher rates of lifetime psychiatric diagnosis compared with referents (CHD: 65%, referent: 22%; P < .001). Specifically, they had higher rates of lifetime anxie...

The aim of our study was to examine psychosocial changes associated with participation in a camp for children with cardiac defects. We enrolled 29 children with cardiac defects aged from 8 to 18 years, along with their parents. Both the parents and the children completed measures of expectations for the camp and anxiety. Analyses of repeated measures indicated that levels of anxiety amongst the children decreased significantly at the end of camp when compared to its beginning. Levels of anxiety amongst the children were not statistically different at follow-up. Anxiety amongst the parents concerning the separation from their children also decreased at follow-up when compared to before the camp. Higher levels of anxiety reported by the children prior to the camp were associated with greater anxiety amongst the parents concerning the anticipated separation, more negative parental expectations of the camp, fewer experiences of separation from their children, and lower expectations by t...

Mouse embryos lacking the retinoic acid receptor gene RXR(alpha) die in midgestation from hypoplastic development of the myocardium of the ventricular chambers and consequent cardiac failure. In this study, we address the issue of whether the RXRalpha gene is required in the cardiomyocyte lineage by generating mice that harbor a ventricular restricted deficiency in RXRalpha at the earliest stages of ventricular chamber specification. We first created a conditional ('floxed') allele of RXRalpha by flanking a required exon of the gene with loxP recombination sequences. To achieve ventricular myocardium-specific gene targeting, and to avoid potential transgenic artifacts, we employed a knock-in strategy to place cre recombinase coding sequences into the myosin light chain 2v (MLC2v) genomic locus, a gene which in the heart is expressed exclusively in ventricular cardiomyocytes at the earliest stages of ventricular specification. Crossing the MLC2v-cre allele with the floxed RXR...

Resumo OBJETIVOS: Avaliar as estratégias de enfrentamento (coping) das gestantes frente ao diagnóstico de cardiopatia fetal. MÉTODOS: Foram entrevistadas 50 gestantes que receberam o diagnóstico de cardiopatia fetal. Para a coleta de dados utilizou-se uma entrevista semidirigida e o Inventário de Estratégia de Coping. A entrevista foi realizada, em média, 22 dias após terem recebido o diagnóstico. RESULTADOS: Ao investigar como se sentiam em relação ao bebê, 56,0% relataram preocupação e fragilidade, enquanto que as demais (44,0%) afirmaram estarem felizes e bem. As estratégias mais utilizadas pelas gestantes foram: resolução de problemas (73,0%), suporte social (69,1%), fuga/esquiva (62,7%), e a estratégia menos utilizada foi a de afastamento (17,3%). Constatou-se que as mulheres com companheiro, utilizaram mais a estratégia de resolução de problemas (p<0,05), assim como as que tinham entre 1 e 2 filhos (p<0,05). CONCLUSÕES: As estratégias de enfrentamento ativas, voltadas para a resolução de problemas e pela busca de suporte social, associadas à responsabilidade e à necessidade de cuidados específicos para a sobrevivência e o bem-estar do bebê, propiciaram uma relação mais próxima com a gestação, fortalecendo o vínculo materno-fetal. Abstract PURPOSE: To evaluate the coping strategies of women facing a diagnosis of fetal heart disease. METHODS: We interviewed 50 women who had received a diagnosis of fetal heart disease. For data collection we used a semi-directed and Coping Strategy Inventory. The interview was conducted, on average, 22 days after the diagnosis. RESULTS: When asked how they felt about the baby, 56.0% reported concern and fragility, while the remaining 44.0% said they were happy and well. The strategies most used by women were problem solving (73.0%), social support (69.1%) and escape/avoidance (62.7%), and the least used strategy was removal (17.3%). It was found that women with partners, as well as those with 1 or 2 children, used more the problem-solving strategy (p<0.05). CONCLUSIONS: The active coping strategies, focused on problem solving and seeking social support, coupled with the responsibility and the need for specific care for the survival and welfare of the baby, brought about a closer relationship with the pregnancy, strengthening the maternal-fetal bond.

Left ventricular non-compaction (LVNC) is a specific cardiomyopathy that occurs following a disruption of endomyocardial morphogenesis. This study presents clinical findings, diagnostic features, treatment and follow-up of pediatric patients diagnosed with LVNC. Patients with LVNC who were followed from January 2006 to March 2010 were included in this study. Diagnosis was made with the use of characteristic findings of magnetic resonance imaging and echocardiography. Holter electrocardiography and metabolic screening tests were also performed in all patients. A total of 24 patients were studied (18 male, six female). Patient age at diagnosis was 50 ± 60 months (eight days to 15 years). Average follow-up period was 22 ± 12 months (four months to four years). Findings at diagnosis were as follows: eight (33%) patients had heart failure, five (20%) had rhythm abnormalities, five (20%) had cardiomegaly, two had murmurs, two had cyanosis, and two presented with fatigue. Ten (41%) patient...

Background: Medical image analysis in clinical practice is commonly carried out on 2D image data, without fully exploiting the detailed 3D anatomical information that is provided by modern non-invasive medical imaging techniques. In this paper, a statistical shape analysis method is presented, which enables the extraction of 3D anatomical shape features from cardiovascular magnetic resonance (CMR) image data, with no need for manual landmarking. The method was applied to repaired aortic coarctation arches that present complex shapes, with the aim of capturing shape features as biomarkers of potential functional relevance. The method is presented from the user-perspective and is evaluated by comparing results with traditional morphometric measurements. Methods: Steps required to set up the statistical shape modelling analyses, from pre-processing of the CMR images to parameter setting and strategies to account for size differences and outliers, are described in detail. The anatomical mean shape of 20 aortic arches post-aortic coarctation repair (CoA) was computed based on surface models reconstructed from CMR data. By analysing transformations that deform the mean shape towards each of the individual patient's anatomy, shape patterns related to differences in body surface area (BSA) and ejection fraction (EF) were extracted. The resulting shape vectors, describing shape features in 3D, were compared with traditionally measured 2D and 3D morphometric parameters.

We report an eight years female child with clinical and molecular cytogenetic findings consistent with CATCH 22 syndrome characterized by cardiac defect, typical facial dysmorphism, mental deficiency and chromosome 22 q11.2 deletion. Interphase FISH with 22q 11.2 probe demonstrated hemizygous deletion in 98.5% nuclei. Interphase FISH for diagnosis of CATCH 22 syndrome has not been reported previously from India to our knowledge.