Congenital Heart Disorders
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| At what time do you expect to see heart tube morphogenesis abnormalities? | 4-7 weeks
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| Down Syndrome: genetic cause; symptoms; incidence; most common defects | trisomy 21; hypotonia and developmental delays; 40-50% incidence (most common); AV septal or ventricular septal defects
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| Turner's syndrome: genetic cause; commonly seen defect | Female XO karyotype; highly associated with coarctation of the aorta of the aorta bicuspid aortic valve
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| William's syndrome: genetic cause; commonly seen signs, symptoms, and defects | Elestan gene (7q11); developmental delya; loquacious personality and facial dysmorphology; supravalvular aortic stenosis, pulmonary artery stenosis, and renal artery stenosis
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| Noonan's syndrome: genetic cause; signs; cardiac abnormalities | autosomal dominant genetic abnormality (12q); similar to Turner's phenotype: short stature, web neck, hypertelorism, and developmental delay; cardiac abnormalities: pulmonary valve stenosis and hypertrophic cardiomyopathy
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| What is a secundum defect? | Most common of atrial septal defect, where there is a shunt from the left to right atrium near the region of the fossa ovalis
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| What is a sinus venosus type defect? | Atrial septal defect adjacent to the superior vena cava or to the inferior vena cava called?
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| What clinical findings do you see in patients with atrial septal defects? | prominent parasternal impulse, fixed splitting of the 2nd heart sound, an ejection murmur a the mid to upper left sternal border and usually a mid-diastolic murmur at the low left sternal border
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| What is the physiological cause for the murmur heard during diastole in a patient with an atrial septal defect? | Increased flow across tricuspid and pulmonic valves resulting in (relative) tricuspid and pulmonic stenosis-->high velocity flow
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| What x-ray findings do you see in patitents with atrial septal defects? | Cardiomegaly with increased pulmonary vascular markings
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| What ECG findings do you see with an atrial septal defect? | Right axis deviation and right ventricular hypertrophy
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| What is the diagnostic imaging modality of choice for a person with an atrial septal defect? | Echocardiography; shows the size and type of defect as well as the nature of the shunting
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| What are some possible complications due to an atrial septal defect? | Children rarely symptomatic; symptoms as adults: right HF (due to volume overload), atrial arrhythmias (from atrial stretching), pulmonary hypertension, paradoxical emboli from right to left atrial flow (rare)
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| What is the treatment for atrial defects? | Elective clousure by age of 3-4 years; most secundum effects can be treated by a transcatheter approach avodiing the need for open heart surgery
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| what is a doubly committed/supracristal defect? | An AV septal defect that is adjacent to the aortic and pulmonary valves
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| What dtermines the severity of an AV septal defect | size of the holw and the down stream resistance to flow
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| What clinical findings do you expect with a small VSD? | Normal intracdic pressures: No symptoms; high pitched, pansystolic murmur low left sternal border, normal S2
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| What clinical findings do you expect with a large VSD? | Pulmonary hypertension: congestive heart failure; failure to thrive in infancy; ejection murmur, loud single S2
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| What XR results do you see in patients with VSD? ECG? What is diagnostic? | XR: large heart, inc. vascularity; ECG: LVH +/- RVH; echocardiogram--diagnostic; catherization infrequently necessary)
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| What is the prognosis for patients with VSDs? What are possible complications? How should they be treated/managed? | Spontaneous closure or decreased in size common; congestive heart failure, failure to thrive, pulmonary hypertension, vascular diseases, bacterial endorcarditis; control of HF and preventrion of pulmonary vascular diseases
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| What is the difference between a complete and a partial AV septal defect? | Complete: contiguous atrial and ventricular communications with a large left-to-rigth shunt + volume overload of the RA, RV, and LV; partial: no intraventricular communication, low atrial defect along with abnormal AV valves
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| What genetic disorder are AV septal defects common with? | Down syndrome
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| What signs are seen in patients with complete AV septal defects? | Findings of large ventricular septal defect including pulmonary hypertension and congestive heart failure
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| What signs are seen in patients with partial AV septal defects? | Partial defects will present similar to an atrial septal defect associated with mitral regurgitation
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| What are the long term complications associated with an AV septal defect? | AV valve regurgitation, congestive heart failure, pulmonary hypertension and eventually pulmonary vascular disease and endocarditis
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| What is the treatment for patients with AV septal defects? | surgical closure of the defect(s)
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| What hemodynamic abnormalities are associated with a patent ductus arteriosus? | left to right shunting leads to volume overload of the left atrium and left ventricle
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| What are the clinical findings seen in a patent ductus arteriosus? | Continous murmur at the upper left sternal border and bounding pulsus (result of diastolic run off from the aorta to the pulmonary artery)
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| What complications are seen in patients with patent ductus arteriosus? | Congestive heart failure, pulmonary hypertension, and endocarditis
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| What's the prognosis for patients with PDAs? | Most can be closed off in the catheterization laboratory with a transcatheter coil or device placement
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| What is Eisenmenger's syndrome? | Longstanding pulmonary hypertension-->damage to pulmonary vasculature at the arteriolar level-->progressive increase in pulmonary vascular resistance over time-->PA pressure > systemic pressure --> shunt shifts to right-to-left-->CYANOSIS
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| What physiological changes are seen in patients with pulmonic stenosis? | Elevated pressure in right ventricule-->right ventricular hypertrophy
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| What clinical findings do you see in patients with pulmonic stenosis? | Ejection click, harsh sytolic ejection murmur at the upper left sternal border; ECG will show right ventricular hypertrophy and the chest XR shows dilated main pulmonary artery (due to post-stenotic dilation)
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| What are the main complications due to pulmonic stenosis? | Right heart failure, cyanosis (if there is a right to left atrial communication shunt)
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| How is pulmonic stenosis typically treated? | With a transcatheter ballon (dilation)
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| What physiological changes do you see in patients with aortic stenosis? | Obstructed outflow-->increased pressure (afterload) in LV-->hypertrophy
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| What clinical findings do you see in patients with aortic stenosis? | Systolic ejection murmur at the right upper sternal border; apical ejection sound; decreased upstroke of the carotid and peripheral pulses (if lesion is severe); ECG: left ventricular hypertrophy; echo is diagnostic
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| What is the treatment for patients with aortic stenosis? | Transcatheter balloon dilation is usually effective only in a palliative procedure; most patients eventually required aortic valve later in childhood or adulthood
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| What are complications seen in patients with aortic stenosis? | congestive heart failure; sudden death; exertional syncope; endocarditis
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| What are the complications associated with coarctation of the aorta? | decreased blood pressure --> cardiogenic shock; severe congestive heart failure
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