Items in AFP with MESH term: Heart Defects, Congenital
ABSTRACT: The routine newborn assessment should include an examination for size, macrocephaly or microcephaly, changes in skin color, signs of birth trauma, malformations, evidence of respiratory distress, level of arousal, posture, tone, presence of spontaneous movements, and symmetry of movements. A newborn with one anatomic malformation should be evaluated for associated anomalies. Total and direct bilirubin levels should be measured in newborns with jaundice, and a complete blood count should be obtained in those with pallor or a ruddy complexion. Neurosurgical consultation is necessary in infants with craniosynostosis accompanied by restricted brain growth or hydrocephalus, cephaloceles, or exophytic scalp nodules. Neck masses can be identified by their location and include vascular malformations, abnormal lymphatic tissue, teratomas, and dermoid cysts. Most facial nerve palsies resolve spontaneously. Conjunctivitis is relatively common in newborns. Infants with chest abnormalities may need to be evaluated for Poland's syndrome or Turner's syndrome. Murmurs in the immediate newborn period are usually innocent and represent a transition from fetal to neonatal circulation. Because cyanosis is primarily secondary to respiratory or cardiac causes, affected newborns should be evaluated expeditiously, with the involvement of a cardiologist or neonatologist.
ABSTRACT: Turner syndrome occurs in one out of every 2,500 to 3,000 live female births. The syndrome is characterized by the partial or complete absence of one X chromosome (45,X karyotype). Patients with Turner syndrome are at risk of congenital heart defects (e.g., coarctation of aorta, bicuspid aortic valve) and may have progressive aortic root dilatation or dissection. These patients also are at risk of congenital lymphedema, renal malformation, sensorineural hearing loss, osteoporosis, obesity, diabetes, and atherogenic lipid profile. Patients usually have normal intelligence but may have problems with nonverbal, social, and psychomotor skills. Physical manifestations may be subtle but can include misshapen ears, a webbed neck, a broad chest with widely spaced nipples, and cubitus valgus. A Turner syndrome diagnosis should be considered in girls with short stature or primary amenorrhea. Patients are treated for short stature in early childhood with growth hormone therapy, and supplemental estrogen is initiated by adolescence for pubertal development and prevention of osteoporosis. Almost all women with Turner syndrome are infertile, although some conceive with assisted reproduction.
ABSTRACT: Congenital heart defects are classified into two broad categories: acyanotic and cyanotic lesions. The most common acyanotic lesions are ventricular septal defect, atrial septal defect, atrioventricular canal, pulmonary stenosis, patent ductus arteriosus, aortic stenosis and coarctation of the aorta. Congestive heart failure is the primary concern in infants with acyanotic lesions. The most common cyanotic lesions are tetralogy of Fallot and transposition of the great arteries. In infants with cyanotic lesions, hypoxia is more of a problem than congestive heart failure. Suspicion of a congenital heart defect should be raised by the presence of feeding difficulties in association with tachypnea, sweating and subcostal recession, or severe growth impairment. Follow-up of infants with congenital heart disease should follow the schedule of routine care for healthy babies with some modifications, such as administration of influenza and pneumococcal vaccines. More frequent follow-up is required if congestive heart failure is present. Family psychosocial issues should also be addressed. One of the main roles for the family physician is to help the parents put the diagnosis in perspective by clarifying expectations and misconceptions, and answering specific questions.
ABSTRACT: The population of adults with congenital heart disease is increasing in North America. Radiologic imaging is critical for the initial assessment and for surveillance in this population. Chest radiography and echocardiography are valuable first-line tools for evaluation. However, magnetic resonance imaging and computed tomography are often necessary, particularly for assessment of extracardiac anatomy or specific vascular connections or relationships, which may be complex in postoperative patients. Although magnetic resonance imaging and computed tomography can provide volumetric data for more comprehensive evaluation of cardiac anatomy and function, magnetic resonance imaging does not require patient exposure to ionizing radiation or nephrotoxic iodinated contrast media. Magnetic resonance imaging also can measure blood flow for quantification of left-to-right shunts, regurgitant fractions, and pressure gradients. Although noninvasive imaging techniques have limitations, they can evaluate most lesions and preclude the need for cardiac catheterization. Noninvasive imaging is particularly useful for serial evaluation of patients with surgically corrected congenital heart disease, because nearly one half of these patients will require two or more surgeries.