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DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate. [7]
Neonatal diabetes is classified into three subtypes: permanent, transient, and syndromic; each with distinct genetic causes and symptoms. [5] Syndromic neonatal diabetes is the term for diabetes as just one component of any of several complex syndromes that affect neonates, including IPEX syndrome, Wolcott-Rallison syndrome, and Wolfram ...
Most congenital heart defects are not associated with other diseases. [3] A complication of CHD is heart failure. [2] Congenital heart defects are the most common birth defect. [3] [11] In 2015, they were present in 48.9 million people globally. [8] They affect between 4 and 75 per 1,000 live births, depending upon how they are diagnosed.
Anomalous left coronary artery from the pulmonary artery (ALCAPA, Bland-White-Garland syndrome or White-Garland syndrome) is a rare congenital anomaly occurring in approximately 1 in 300,000 liveborn children. The diagnosis comprises between 0.24 and 0.46% of all cases of congenital heart disease. [1]
Related changes; Upload file; ... Heart disorders (Congenital heart defects) ... List of ICD-9 codes 740–759: congenital anomalies; Rare disease
Eisenmenger syndrome or Eisenmenger's syndrome is defined as the process in which a long-standing left-to-right cardiac shunt caused by a congenital heart defect (typically by a ventricular septal defect, atrial septal defect, or less commonly, patent ductus arteriosus) causes pulmonary hypertension [1] [2] and eventual reversal of the shunt into a cyanotic right-to-left shunt.
Other risk factors include: having a parent with a congenital heart defect, alcohol use while pregnant, uncontrolled diabetes treatment during pregnancy and some medications during pregnancy. [5] This type of congenital heart defect is associated with patients with Down syndrome (trisomy 21) or heterotaxy syndromes.
Ebstein's anomaly is a congenital heart defect in which the septal and posterior leaflets of the tricuspid valve are displaced downwards towards the apex of the right ventricle of the heart. [1] EA has great anatomical heterogeneity that generates a wide spectrum of clinical features at presentation and is complicated by the fact that the ...