Presentation
Aortic valve stenosis was present in 3/5 in A but in 0/14 in B. ADA may be suspected clinically in cyanotic NB with reduced pulmonary flow if there is no response to PGE infusion and/or if aortic valve stenosis is also present. [nature.com]
Table 122A-1 Clinical Presentations of Congenital Heart Disease View Table | Favorite Table | Download (.pdf) Table 122A-1 Clinical Presentations of Congenital Heart Disease Clinical Presentation Causative Conditions in Neonates Causative Conditions in [accessmedicine.mhmedical.com]
Patients with Eisenmenger Syndrome can present with: (i) Syncope This may be the first presenting feature in a child or young adult with pulmonary hypertension. [rcemlearning.co.uk]
Clinical description TAR syndrome presents with bilateral absence of the radius with present thumbs (that is the major distinguishing feature making TAR syndrome different from other disorders featuring radial aplasia), thrombocytopenia, and a number [orpha.net]
Discussion The present case report presented a Chinese female patient (age, four years and eight months) with a de novo microduplication of 1.6 Mb in 1q21.1. [spandidos-publications.com]
Entire Body System
- Pulmonary Valve Stenosis
[…] atresia Pulmonary valve stenosis Tetralogy of Fallot Total anomalous pulmonary venous return Transposition of the great vessels Tricuspid atresia Truncus arteriosus Vascular ring Ventricular septal defect [ Read More ] [icdlist.com]
[…] and onward to the lungs Truncus arteriosus – the formation of only one combined artery instead of the normal two outlets from the heart, the aorta and pulmonary artery Pulmonary valve stenosis – problems with the pulmonary valve (for example, development [my.clevelandclinic.org]
[…] membrane oxygenation; LPA, left pulmonary artery; PS, pulmonary valve stenosis; ASD, atrial septal defect. [academic.oup.com]
[…] and tricuspid valves Q22.0 Pulmonary valve atresia Q22.1 Congenital pulmonary valve stenosis Q22.2 Congenital pulmonary valve insufficiency Congenital pulmonary valve regurgitation Q22.3 Other congenital malformations of pulmonary valve Congenital malformation [apps.who.int]
- Anemia
Differential diagnosis The main differential diagnoses include Holt-Oram syndrome, Roberts syndrome, Fanconi anemia, thalidomide embryopathy and RAPADILINO syndrome (see these terms). [orpha.net]
There was no inflammatory syndrome or anemia. [romanianjournalcardiology.ro]
Common Causes of Heart Failure in Children Age at Onset Causes In utero Chronic anemia with subsequent high-output heart failure Large systemic arteriovenous fistulas (eg, cerebral vein of Galen shunt) Myocardial dysfunction secondary to myocarditis Sustained [msdmanuals.com]
As other congenital differences radial club hand can be associated with other genetic syndromes such as VACTER, Holt-Oram Syndrome, TAR syndrome and Fanconi’s anemia. [columbiadoctors.org]
Hyperkinetic circulation (e.g. anemia) has also been associated with increased velocities in the ductus venosus (13). [fetalultrasound.com]
- Poor Growth
Left untreated, this defect can cause poor growth, malnourishment, enlargement of the heart, and pulmonary hypertension. Coarctation of the aorta. [nyp.org]
A newborn with a patent ductus arteriosus may have: Fast breathing A hard time breathing More respiratory infections Tire more easily Poor growth However, if the patent ductus arteriosus is not large, it may cause no symptoms and your doctor may not find [cincinnatichildrens.org]
A large-shunt PDA may cause lower respiratory tract infection as well as feeding difficulties and poor growth during infancy, with failure to thrive because of heart failure. [patient.info]
Tachycardia, exertional dyspnoea, laboured breathing, fatigue or poor growth are common. Large shunts may lead to failure to thrive, recurrent infection of the upper respiratory tract and congestive heart failure. [ncbi.nlm.nih.gov]
- Disability
As a matter of courtesy we request that the content provider (Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities) be credited and notified in any public or private usage of this image. [cdc.gov]
Please enable JS and disable any ad blocker [cairn.info]
Seek advice about getting Disability Living Allowance (DLA) if your child needs much more care than a child of his or her age, or is having problems walking. [chd-uk.co.uk]
For adults with CHD, guidance is necessary for planning key life issues, such as college, career, employment, insurance, activity, lifestyle, inheritance, family planning, pregnancy, chronic care, disability, and end of life. [stanfordchildrens.org]
The validity of 6MWD in these patients has been disputed as walking distance has been shown to be inversely related to degree of intellectual disability in Down’s syndrome patients [ 70 ]. [err.ersjournals.com]
- Feeding Difficulties
Or symptoms can include: A heart murmur Pulses that are stronger than normal in the upper part of the body and diminished or absent in the legs Low oxygen levels in the legs and lower body Signs of heart failure, such as sweating during feeding Difficulty [texaschildrens.org]
difficulty, poor infant growth, failure to thrive [due to HF] Rx Indomethacin An NSAID Arachidonic acid cleaved from phospholipid in membrane by COX Decreases PGE1, PGE2 These are made by the placenta, ductus arteriosus PGE2 most potent - EP2, EP4 = [alancam.com]
A large-shunt PDA may cause lower respiratory tract infection as well as feeding difficulties and poor growth during infancy, with failure to thrive because of heart failure. [patient.info]
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. [aafp.org]
Pulmonary Sling Pulmonary Sling On the left a 4 month old girl with abnormal echo, benign heart murmur and no respiratory or feeding difficulties. The sagittal reconstruction shows an anomalous vessel on the posterior side of the trachea. [radiologyassistant.nl]
Respiratoric
- Cough
On the left a 2 year old girl with wheezing and coughing. Study the images and then continue. [radiologyassistant.nl]
His chief complaints are chest pain and severe coughing and sometimes vomiting. [heart.org]
→ mild left-to-right shunt A shunt reversal may be induced by certain maneuvers that induce an increase in right atrial pressure (e.g., Valsalva maneuver, coughing ). [amboss.com]
Gastrointestinal
- Regurgitation
On admission, at the age of 4 h, the ECHO showed significant RV hypertrophy, tricuspid regurgitation, and pulmonary valve regurgitation. [academic.oup.com]
The presence of significant tricuspid regurgitation also increases the risk of heart failure. [emedicine.medscape.com]
The assessment of pulmonary artery systolic pressure was carried out by measuring peak tricuspid regurgitation velocity and the estimated value was 52 mm Hg. [romanianjournalcardiology.ro]
- Dysphagia
Sometimes dysphagia lusoria when dilated suvclavian artery compresses esophagus posteriorly. [radiologyassistant.nl]
CLINICAL CASE REPORTS Our series is comprised of three female patients (Table) with no symptoms of dysphagia or stridor. [revespcardiol.org]
Musculoskeletal
- Brachydactyly
[…] syndrome has recently been described comprising variable cardiovascular defects (patent arterial duct, bicuspid aortic valve, pseudocoarctation of the aorta), hand anomalies (consisting of 5th metacarpal hypoplasia of varying degree), and generalised brachydactyly [ncbi.nlm.nih.gov]
Neurologic
- Agitation
Some babies are very small, they can be agitated or unstable, have a high heart rate, and sometimes a poor echo window, particularly if they are ventilated and have severe underlying lung disease. [frontiersin.org]
Occurs due to transient increase in right ventricular outflow tract obstruction that involvesnarrowing of the infundibulum (the sub-pulmonary outflow tract) Precipitating factors: Agitation and dehydration. [rcemlearning.co.uk]
Workup
Further history and workup for deep vein thrombosis (DVT) and a hereditary hypercoagulable state failed to identify a cause for PE. The patient was discharged, but later on readmitted to the hospital with chest pain and palpitations. [heartviews.org]
Treatment
Simple superficial laser treatments have no effect on deep malformations that result in severe symptoms. Treatment is often performed in stages by combining the three treatment modalities ( Figure 12 ). Figure 11. [phlebolymphology.org]
The ductus may close on its own, without treatment. If it doesn’t, treatments include: Medication Certain medications can constrict the artery, shrinking the duct and allowing it to close. The medication is given by IV over a period of a few days. [texaschildrens.org]
However, the group of preterm infants likely to benefit from PDA treatment, the timing of treatment, and the best therapeutic strategy are still a matter of debate [ 7, 8 ]. [journals.plos.org]
Depending of the type of anomaly, treatment will be recommended by the hand surgeon, the treatment may be surgical and non-surgical depending on each individual case. [columbiadoctors.org]
Many children with congenital heart defects don't need treatment, but others do. Treatment can include medicines, catheter procedures, surgery, and heart transplants. [icdlist.com]
Prognosis
Infants who require surgery early in life have a worse prognosis than those repaired at a later date. [emedicine.medscape.com]
Noonan syndrome 4 non-syndromic anomalies, e.g. congenital cardiac anomalies 7 Treatment and prognosis The prognosis of fetuses with absent ductus venosus diagnosed at 11-13 weeks of gestation depends on the measurement of nuchal translucency thickness [radiopaedia.org]
[…] intact ventricular septum has a relatively better prognosis. [10] 4 Conclusions APVS is a rare congenital heart disease and often associated with TOF, but has an overall poor prognosis. [journals.lww.com]
Prognosis: • Good outcome with surgery. [slideshare.net]
Etiology
Etiology The etiology and inheritance pattern remain unclear. In all patients, a deletion on chromosome 1q21.1 has been found. However, at present, it is still unclear how this relates to the cause in TAR syndrome. [orpha.net]
Epidemiology and Natural History 482 Evaluation and Nonsurgical Management of Benign Prostatic Hyperplasia 486 Minimally Invasive and Endoscopic Management of Benign Prostatic Hyperplasia 493 Retropubic and Suprapubic Open Prostatectomy 496 Epidemiology Etiology [books.google.ro]
References: [2] [3] [4] [5] [6] [7] [8] [9] Atrial septal defect (ASD) Etiology Down syndrome Fetal alchohol syndrome Holt-Oram syndrome Pathophysiology Impaired growth or excessive resorption of the atrial septa in utero leads to atrial septal defects [amboss.com]
Etiology and Pathophysiology Often, PDA has no clear-cut cause; however, it is believed that genetic and environmental factors may be involved. [news-medical.net]
Etiology of Patent Ductus Arteriosus (PDA) The etiological factors of PDA can be assessed as following: The exact etiology of PDA is unknown but familial cases have been reported. Genetic causes are not established. [lecturio.com]
Epidemiology
[…] and Natural History 482 Evaluation and Nonsurgical Management of Benign Prostatic Hyperplasia 486 Minimally Invasive and Endoscopic Management of Benign Prostatic Hyperplasia 493 Retropubic and Suprapubic Open Prostatectomy 496 Epidemiology Etiology [books.google.ro]
Summary Epidemiology It occurs in less than 1 per 100,000 live births, equally affecting both sexes. [orpha.net]
Complications Heart failure in infancy Infective endocarditis Common cause of pulmonary hypertension and Eisenmenger syndrome in adolescents and adults References: [2] [3] [22] [23] [24] [25] Coarctation of the aorta Epidemiology Prevalence : 4/10,000 [amboss.com]
An epidemiology paper from Carleton covering the period between 1941–58 found only 41 families where the same cardiac defect occurred in two family members and of these only 17 had patent arterial duct [ 12 ]. [ncbi.nlm.nih.gov]
Paradoxical emboli Complication Instead of eg DVTs going into lung May be able to go through ASD into systemic circulation and cause stroke etc Patent Ductus Ateriosus Spiral smooth muscle Epidemiology Term - 1:2000 [10% of congenital heart defects] inc [alancam.com]
Pathophysiology
Pathophysiology General pathophysiological processes The left chambers of the heart are a high-pressure pump system and the right chambers of the heart are a low-pressure pump system. [amboss.com]
Distinct clinical presentations are discussed further in later sections, including the pathophysiology, clinical features and treatment, and individual defects within each group. [accessmedicine.mhmedical.com]
(Click picture to show/hide bloodflows) Pathophysiology For blood to exit the right ventricle, it must either return to the right atrium via the tricuspid valve or drain into the coronary circulation via sinusoids. [vhlab.umn.edu]
Cutaneous Continent Urinary Diversion 459 Orthotopic Urinary Diversion 465 Genital and Lower Urinary Tract Trauma 468 Lower Urinary Tract Calculi 471 Development Molecular Biology and Physiology of the Prostate 476 Benign Prostatic Hyperplasia Etiology Pathophysiology [books.google.ro]
Etiology and Pathophysiology Often, PDA has no clear-cut cause; however, it is believed that genetic and environmental factors may be involved. [news-medical.net]
Prevention
Esophageal atresia prevents the normal passage of food and saliva to the stomach. A ____ is an abnormal opening between the trachea and esophagus. tracheoesophageal fistula [quizlet.com]
References Mai CT, Riehle-Colarusso T, O’Halloran A, Cragan JD, Olney RS, Lin A, Feldkamp M, Botto LD, Rickard R, Anderka M, Ethen M, Stanton C, Ehrhardt J, Canfield M; National Birth Defects Prevention Network. [cdc.gov]
After closure using catheter based procedures, preventive antibiotics are gives for 6 months to prevent infection. [fairview.org]
While they can't be prevented, many treatments are available for the defects and related health problems. [m.kidshealth.org]
Most cases of endocarditis can’t be prevented, because we don’t always know when a bacteremia occurs. [heart.org]