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Query: UMLS:C0018801 (heart failure)
 72,216 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Scimitar syndrome is a rare congenital anomaly, characterized by partial or complete anomalous pulmonary venous drainage of the right or left lung into the inferior vena cava. The syndrome is commonly associated with hypoplasia of the right lung, pulmonary sequestration, persisting left superior vena cava, and dextroposition of the heart. The pathogenesis of the syndrome is unclear, but it seems to originate from a basic developmental disorder of the entire lung bud early in embryogenesis. Two main forms of scimitar syndrome have been described. Signs and symptoms can start during infancy (infantile form) or beyond (childhood/adult form). The infantile form generally presents within the first 2 months of life with tachypnea, recurrent pneumonia, failure to thrive, and signs of heart failure. The diagnosis of scimitar syndrome is usually made based on the characteristic chest X-ray films and can be confirmed by angiography; however, it is now done mostly by transthoracic or transesophageal echocardiography, noninvasive computed tomography, or magnetic resonance angiography. Fetal echocardiography using three-dimensional power Doppler imaging permits prenatal diagnosis. Most frequently, patients are asymptomatic in the absence of associated abnormalities and can be followed conservatively. For patients with congestive heart failure, repeated pneumonia, or pulmonary-to-systemic blood flow ratios greater than 1.5 and pulmonary hypertension, it is important to reroute the anomalous right pulmonary veins and repair the associated cardiac defects in order to avoid progression to right ventricular failure. The triad of respiratory distress, right lung hypoplasia, and dextroposition of the heart should alert the clinician to think of scimitar syndrome.
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PMID:Eponym. Scimitar syndrome. 2022 23

Muscular ventricular septal defects (MVSDs) account for approximately 20% of all congenital ventricular septal defects. Large defects in infants result in early heart failure, failure to thrive and pulmonary hypertension. Although percutaneous closure of MVSDs has been employed safely and effectively in children, adolescents and adults, its application in the small infant (weight <6 kg) carries a higher risk for complications including arrhythmias, hemodynamic compromise, cardiac perforation, tamponade and death. Perventricular closure of such defects, introduced by Amin and coworkers in the late 1990s, has become an attractive treatment modality for these small and high-risk patients. Experience worldwide has shown that the procedure is feasible, reproducible, safe and effective. In this article, the authors review the indications, the step-by-step technique and the results of perventricular closure of MVSDs using the AMPLATZER mVSD device (AGA Medical, MN, USA).
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PMID:Perventricular device closure of congenital muscular ventricular septal defects. 2045 Mar

Background. Brain natriuretic peptide and its inactive fragment N-terminal pro-BNP (N-BNP) are reliable markers of ventricular dysfunction in adults and children. We analyzed the impact of nutritional state on N-BNP levels in infants with failure to thrive (FTT) and in infants with severe heart failure (HF). The purpose of this study was to compare N-BNP levels in infants with FTT with infants with severe HF and healthy controls. Methods. In a retrospective cohort study, we compared N-BNP levels from all consecutive infants with FTT and bodyweight below the tenth percentile (caloric deprivation (CD) group) to infants with severe HF. Reference values from infants between 2 and 12 month were taken from the literature and healthy infants. Results. Our results show that infants with FTT (n = 15) had significantly (P < .001) elevated N-BNP values compared with the healthy infants (n = 23), 530 (119-3150) pg/mL versus 115 (15-1121) pg/mL. N-BNP values in this CD group are comparable to the median value of infants with severe HF (n = 12) 673 (408-11310) pg/mL. There is no statistical significant difference in age. Conclusion. Nutritional state has an important impact on N-BNP levels in infants with FTT. We could show comparable levels of N-BNP in infants with FTT and infants with severe HF.
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PMID:NT-Pro-B-Type Natriuretic Peptide Levels in Infants with Failure to Thrive due to Caloric Deprivation. 2046 54

The prevalence of pediatric obstructive sleep apnea syndrome (OSAS) is approximately 3% in children. Adenotonsillar hypertrophy is the most common cause of OSAS in children, and obesity, hypotonic neuromuscular diseases, and craniofacial anomalies are other major risk factors. Snoring is the most common presenting complaint in children with OSAS, but the clinical presentation varies according to age. Agitated sleep with frequent postural changes, excessive sweating, or abnormal sleep positions such as hyperextension of neck or abnormal prone position may suggest a sleep-disordered breathing. Night terror, sleepwalking, and enuresis are frequently associated, during slow-wave sleep, with sleep-disordered breathing. Excessive daytime sleepiness becomes apparent in older children, whereas hyperactivity or inattention is usually predominant in younger children. Morning headache and poor appetite may also be present. As the cortical arousal threshold is higher in children, arousals are not easily developed and their sleep architectures are usually more conserved than those of adults. Untreated OSAS in children may result in various problems such as cognitive deficits, attention deficit/hyperactivity disorder, poor academic achievement, and emotional instability. Mild pulmonary hypertension is not uncommon. Rarely, cardiovascular complications such as cor pulmonale, heart failure, and systemic hypertension may develop in untreated cases. Failure to thrive and delayed development are serious problems in younger children with OSAS. Diagnosis of pediatric OSAS should be based on snoring, relevant history of sleep disruption, findings of any narrow or collapsible portions of upper airway, and confirmed by polysomnography. Early diagnosis of pediatric OSAS is critical to prevent complications with appropriate interventions.
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PMID:Obstructive sleep apnea syndrome in children: Epidemiology, pathophysiology, diagnosis and sequelae. 2118 56

Pediatric aneurysms are different from adult aneurysms - they are more rare, are giant and in the posterior circulation more frequently than in adults and may be associated with congenital disorders. Infectious and traumatic aneursyms are also seen more frequently. Vein of Galen malformations are even rarer entities. They may be of choroidal or mural type. Based on the degree of AV shunting they may present with failure to thrive, with hydrocephalus or in severe cases with heart failure. The only possible treatment is by endovascular techniques - both transarterial and transvenous routes are employed. Rarely transtorcular approach is needed. These cases should be managed by an experienced neurointerventionist.
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PMID:Pediatric aneurysms and vein of Galen malformations. 2206 20

The clinical features of ring chromosome 6 include central nervous system anomalies, growth retardation, facial dysmorphism and other congenital anomalies. Ring chromosome 6 occurs rarely and manifests as various phenotypes. We report the case of mosaic ring chromosome 6 by conventional karyotyping in a 7-day-old male infant diagnosed with a large patent ductus arteriosus (PDA) with hypoplasia of aortic valve and aortic arch. These have not been previously reported with ring chromosome 6. He recovered from heart failure symptoms after ligation of the PDA. He showed infantile failure to thrive and delayed milestone in a follow-up evaluation. To the best of our knowledge, this is the first report of a Korean individual with ring chromosome 6 and hemodynamically significant PDA.
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PMID:Mosaic ring chromosome 6 in an infant with significant patent ductus arteriosus and multiple congenital anomalies. 2287 64

Congenital disorders of glycosylation (CDG) are a group of metabolic disorders caused by deficient protein glycosylation. PMM2-CDG, the most common CDG, is caused by phosphomannomutase (PMM) deficiency. Clinical symptoms often include neurological involvement in addition to dysmorphic features, failure to thrive, cardiac failure, renal, and endocrine abnormalities. To our knowledge, lymphatic edema in CDG has not been reported. We present two cases of lymphatic edema in PMM2-CDG patients. The first patient was noted to have a larger right leg circumference at two years. Ultrasound investigations did not reveal any obvious vascular or lymphatic malformation. The swelling increased in size over time. At 12 years, lymphoscintigraphy revealed decreased lymphatic draining in both legs, which was more profound in the right leg. The second patient was treated for pulmonary stenosis at age 2 months. Postoperative, the patient suffered from protein-losing enteropathy, hypothyroidism, recurrent bacterial infections, and bilateral lymphatic edema. General condition improved after thyroxin treatment and albumin infusions; however, the bilateral pedal and leg edema remained unresolved. Contrast studies of the lymphatic system showed bilateral hypoplasia distal to the knees. Although both children had secondary factors worsening lymphatic edema in PMM2-CDG, hypoalbuminemia, recurrent infections, cardiac failure, and endocrine abnormalities could not fully explain the clinical features. The additional factors were treated successfully but the therapy did not resolve the lymphatic edema. Based on the abnormal imaging studies of the lymphatic system, we propose that lymphatic vessel hypoplasia is the major cause for lymphatic edema in our patients with PMM2-CDG.
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PMID:Lymphatic edema in congenital disorders of glycosylation. 2343 Sep 5

A giant cardiac fibroma was discovered during evaluation for a soft systolic murmur in an asymptomatic 2-week-old girl. Echocardiography and magnetic resonance imaging showed a large intraventricular solid mass developed at the expense of the left ventricular lateral wall. Tumour progression resulted in failure to thrive and ventricular arrhythmia between 2 and 18 months of age. At that time, complete resection seemed unfeasible and conservative management with heart failure and antiarrhythmic medications was chosen. All drugs were discontinued when the patient was 5 years old. Since that time, the mass is stable and the patient is strictly asymptomatic. Conservative strategy seems to be acceptable in selected cases but close follow-up is mandatory.
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PMID:Long-term conservative management of a giant cardiac fibroma. 2428 14

Congenital absence of the pulmonary valve is a rare congenital cardiac malformation, usually seen in association with tetralogy of Fallot. Patients generally present early in life with respiratory distress or recurrent respiratory tract infections, failure to thrive, cyanosis, infective endocarditis, or heart failure. Isolated absent pulmonary valve is quite rare and may be discovered in older age-group as in our patient, a nine-year-old male child who presented with atypical symptoms of exertional chest pain. Unusual echocardiographic features in this case include intact ventricular septum and prominent trabeculations of the right ventricle. Surgical implantation of a bioprosthetic valve was followed by hemodynamic and symptomatic improvement.
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PMID:Absent pulmonary valve: a case with rare presentation treated with bioprosthetic valve replacement. 2532 69

Familial hypertrophic cardiomyopathy (HCM) is usually caused by autosomal dominant pathogenic mutations in genes encoding sarcomeric or sarcomere-associated cardiac muscle proteins. The disease mainly affects adults, although young children with severe HCM have also been reported. We describe four unrelated neonates with lethal cardiomyopathy, and performed molecular studies to identify the genetic defect. We also present a literature overview of reported patients with compound heterozygous or homozygous pathogenic MYBPC3 mutations and describe their clinical characteristics. All four children presented with feeding difficulties, failure to thrive, and dyspnea. They died from cardiac failure before age 13 weeks. Features of left ventricular noncompaction were diagnosed in three patients. In the fourth, hypertrabeculation was not a clear feature, but could not be excluded. All of them had septal defects. Two patients were compound heterozygotes for the pathogenic c.2373dup p.(Trp792fs) and c.2827C>T p.(Arg943*) mutations, and two were homozygous for the c.2373dup and c.2827C>T mutations. All patients with biallelic truncating pathogenic mutations in MYBPC3 reported so far (n=21) were diagnosed with severe cardiomyopathy and/or died within the first few months of life. In 62% (13/21), septal defects or a patent ductus arteriosus accompanied cardiomyopathy. In contrast to heterozygous pathogenic mutations, homozygous or compound heterozygous truncating pathogenic MYBPC3 mutations cause severe neonatal cardiomyopathy with features of left ventricular noncompaction and septal defects in approximately 60% of patients.
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PMID:Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects. 2533 96


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