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Odevixibat treatment in a child with hypoplastic left heart syndrome and severe cholestatic pruritus: a case report
Published 2025-01-01“…Liver-related abnormalities are commonly observed in patients with congenital heart disease, and these may lead to secondary manifestations such as pruritus. …”
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122
Importance of the cardiovascular physical examination in the diagnosis of coarctation of the aorta
Published 2021-12-01“…The objective of this work is to call attention to the importance of the clinical method in the diagnosis of congenital heart disease.…”
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Percutaneous Coronary Intervention in a Patient with Right-Sided Heart: Invert the Views?
Published 2018-01-01“…Situs inversus totalis considered a malposition syndrome is a very rare condition, occurring in 1 : 8000 births, usually without associated structural congenital heart disease. The diagnosis is often incidental as in this case, which presented with an acute coronary syndrome as a manifestationof multivessel coronary artery disease. …”
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125
One-year mortality and re-admission rate by disease etiology in National Heart Failure Registry of India
Published 2025-01-01“…Compared to ischemic heart disease, the mortality was two to five times higher in rheumatic heart disease (HR = 2.0; 95% CI: 1.6–2.4), congenital heart disease (2.9; 1.9–4.2), and infective endocarditis (4.8; 2.4–9.8). …”
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126
Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome
Published 2017-01-01“…We describe a case of ALGS with novel mutations of JAG1 and NOTCH2 genes in a newborn girl with complex congenital heart disease, bilateral dysplastic kidneys, and malrotation with volvulus.…”
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127
Huge Pulmonary Artery Aneurysm
Published 2009-01-01“…Less common causes are pulmonary hypertension, congenital heart disease and neoplasm. BD is a multisystem disorder presenting with recurrent oral and genital ulcerations, as well as ocular involvement, and PAA is one of its rare complications. …”
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128
Polysplenia Syndrome and the Development of Heart Failure due to Associated Congenital Heart Defect
Published 2024-12-01“…Key message: Patients with polysplenia syndrome can develop pulmonary hypertension and heart failure due to underlying congenital heart disease, underscoring the need for early recognition and intervention to prevent further progression of the condition.…”
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129
Pheochromocytoma in Congenital Cyanotic Heart Disease
Published 2018-01-01“…Several cases of P-PGL have been reported in patients with cyanotic congenital heart disease (CCHD). Patients affected with CCHD have an increased likelihood of P-PGL compared to those affected with noncyanotic congenital heart disease. …”
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130
Formation of the Ventricles
Published 2006-01-01“…Interpretation of these studies highlights the fact that even the smallest perturbation at any stage of ventricular development may lead to cardiac malformations that result in either early embryonic mortality or a manifestation of congenital heart disease.…”
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131
A Case of Advanced Glaucoma with Increased Episcleral Venous Pressure in a 17-Year-Old with Eisenmenger Syndrome
Published 2017-01-01“…Eisenmenger syndrome refers to reversal of shunt and central cyanosis due to pulmonary hypertension induced by congenital heart disease with a large systemic-to-pulmonary shunt. …”
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132
Isolated Left Bundle Branch Block in a Toddler
Published 2014-01-01“…Left bundle branch block (LBBB) usually occurs as a postoperative complication from surgical correction of congenital heart disease and can be associated with hypertensive heart disease, coronary artery disease, myocarditis, and aortic valvular disease. …”
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133
Transcatheter Closure of Atrial Septal Defect in a Patient with Cor Triatriatum Sinister and Atrial Septal Defect
Published 2011-01-01“…Cor triatriatum sinister is a rare congenital heart disease and rarely found in adults. The authors describe an asymptomatic 20-year old man presenting with heart murmur by check up. …”
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134
Isolated Persistent Left Superior Vena Cava, Sick Sinus Syndrome, and Challenging Pacemaker Implantation
Published 2017-01-01“…It is usually an asymptomatic anomaly and is mostly detected during difficult central venous access or pacemaker implantation, though it could also be associated with an increased incidence of congenital heart disease, arrhythmias, and conduction disturbances. …”
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135
Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology?
Published 2017-01-01“…A diagnosis of congenital lobar emphysema should prompt further screening for congenital heart disease and genetic deletion, and further research is needed to investigate the role of elastin gene mutation in the development of the neonatal lung.…”
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136
Costello Syndrome. A case report
Published 2014-06-01“…The clinical study and description of his physical characteristics were performed, detecting as main distinctive features: storage disease-like phenotype, failure to thrive, congenital heart disease, coarse facies, mental retardation and humorous personality. …”
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Karakteristik Penderita Penyakit Jantung Bawaan pada Anak di RSUP Dr. M. Djamil Padang Periode Januari 2010 – Mei 2012
Published 2015-09-01“…<br />Keywords: congenital heart disease, children, variation of characteristics<br /><br /><br />…”
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138
Genetic Insights into Bicuspid Aortic Valve Formation
Published 2012-01-01“…These discoveries provided valuable insight into cardiac morphogenesis and uncovered congenital-heart-disease-causing genes. This paper will summarize the current knowledge of valve morphogenesis as well as our current understanding of the genetic pathways involved in BAV formation. …”
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139
A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant
Published 2024-02-01“…Abstract Cardiospondylocarpofacial syndrome (CSCFS) is a congenital malformation characterized by growth retardation, facial features, short toes with carpal and tarsal fusion, extensive posterior neck vertebral fusion, congenital heart disease, and deafness. Here, we report a severe case of CSCFS with a novel variant, p.Thr187Ile, in MAP3K7. …”
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Leadless Pacemaker Implantation in the Presence of the Bioprosthetic Tricuspid Valve: Case Presentation and Literature Review
Published 2025-01-01“…ABSTRACT A 21‐year‐old man, known case of the repaired congenital heart disease, developed complete atrioventricular block (AVB) one week after simultaneous bioprosthetic pulmonary and tricuspid valve replacement and atrial septal defect repair. …”
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