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Doctor insights on: No Down Syndrome But Av Canal Defect

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Av canal defect, can this cause down syndrome?

Av canal defect, can this cause down syndrome?

Other way around: Atrioventricular (av) canal defect is a relatively common congenital heart defect in children born with down syndrome. Down syndrome "causes" av canal defects, not the other way around. Av canal defect is a major congenital anomaly with the potential to cause severe symptoms. However, in most cases, av canal defect can be repaired. High levels of surgical skill is important for best outcomes. ...Read more

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Dr. Kathryn Akin
656 doctors shared insights

Down Syndrome (Definition)

A genetic Chromosome 21 disorder causing ...Read more


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Does an av canal defect cause downs syndrome?

No: Av canal does not cause down syndrome, but av canal is one of the abnormalities that make up down syndrome (a syndrome is a group of abnormalities that appear together in affected persons). The cause of down syndrome is the presence of an extra chromosome #21. ...Read more

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Why are av canal defects associated with?Down syndrome?

Patterns: The extra chromosome in every cell causes confusion in the formation of every complex organ system of the body. The heart is quite complex, and the AV canal defect is more or less a failure of the heart to complete itself (the walls between chambers form near the end of the normal process).The pattern of facial features, hand features, etc all represent this pattern of interference in formation. ...Read more

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Looking for Down syndrome due to endocardial cushion defect. Why?

Looking for Down syndrome due to endocardial cushion defect. Why?

Very common problem : Endocardial cushion defects are often seen in down syndrome. If it is detected prenatally, you would want a test to check if the baby has down syndrome. ...Read more

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I have atrial septal aneurysm-protrusion 6 mm beyond the plane and a base width 10mm.Ecg showed incomplete right bundle branch block.Is this dangeros?

I have atrial septal aneurysm-protrusion 6 mm beyond the plane and a base width 10mm.Ecg showed incomplete right bundle branch block.Is this dangeros?

Maybe: Every ASD does not need to be repaired. However this one is moderately large. You are 24 with a long life ahead of you. Echocardiograms and other tests will inform your cardiologist about your best choice forward. Also how healthy and athletic you are will help inform the decision. the RBBB is benign and unimportant in my opinion and compatible with a normal life span ...Read more

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How come atrioventricular septal defect so common in children with down's syndrome?

How come atrioventricular septal defect so common in children with down's syndrome?

Unknown: The heart is a very complex organ. We still do not fully understand how the normal heart develops in the fetus. We understand even less about what causes the heart to develop abnormally. ...Read more

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Why is atrioventricular septal defect common? With down's syndrome?

Why is atrioventricular septal defect common? With down's syndrome?

Chromosomal abnormal: The association of atrial septal defect with Down Syndrome is part of the constellation of body abnormalities that characterize it. ...Read more

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My recent EKG reads sinus brady with 1st degree AV Block incomplete right bundle branch block. Am I at a greater risk for heart failure or a fib?

My recent EKG reads sinus brady with 1st degree AV Block incomplete right bundle branch block.  Am I at a greater risk for heart failure or a fib?

Correct: AllButBrady: damaged muscle cells, most commonly from blood supply issues (artery disease, by US autopsy studies >8 decades, present 1/2 population by age 7), arteries enlarge, not narrow, thus not clinically apparent for decades until vulnerable plaques rupture releasing WBCs triggering clots & blood flow blocked to capillaries. Same issue underlying atrial fib. All issues missed by conventional tests. ...Read more

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L5 S1 Bilateral Facet Hypertrophy resulting in no significant central canal neuroforaminil stenosis. Been in pain for 10 months what can i do?

L5 S1 Bilateral Facet Hypertrophy resulting in no significant central canal neuroforaminil stenosis. Been in pain for 10 months what can i do?

Ouch!: You're young to have this, unless you're prior military or did a lot of weight-bearing. Get to your ideal body weight. Strengthen core muscles with physical therapy/Pilates. Try oral NSAIDs & consider short oral steroid burst. No opioids/narcotics - more a curse than blessing. Try a TENS unit, acupunture, tilt table, hot/cold packs & last resort facet joint steroid injections/blocks. Hang in there ...Read more

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What does this all mean. the central spinal canal is widely patent mild broad-based disc buldge at L5-S1 partial left L5 hemilaminectomy defect mi?

What does this all mean.

the central spinal canal is widely patent

mild broad-based disc buldge at L5-S1

partial left L5 hemilaminectomy defect

mi?

Disk disease of back: The central (spinal) canal is open. There is a disk bulge at L5-S1 which may or may not cause any problems. There is part of the L5 vertebrae that is not there. Probably congenital and not an major issue. ...Read more

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I have bradachardia, 1st degree av block & congenital heart disease papvr. Is clarithromycin safe to take? It causes heart problems? No?

I have bradachardia, 1st degree av block & congenital heart disease papvr. Is clarithromycin safe to take? It causes heart problems? No?

Very specific proble: Clarithromycin can cause prolongation of the corrected QT interval (measurement on EKG). If overly prolonged, dangerous rhythm disturbances can result (torsades de pointe ventricular tachycardia). It will not affect or be affected by sinus bradycardia, first degree AV block, or partial anomalous pulmonary venous return. If your QTc is normal, then it's safe for you to use it. ...Read more

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Complete avsd size 29 mm in three month child with pah and av valve regurgitetion is there could it repair ?

Complete avsd size 29 mm in three month child with pah and  av valve regurgitetion  is there

could it repair ?

Hopefully this helps: Not sure i understand your question fully, but atrioventricular septal defects (avsd) typically have sizable holes on the atrial and ventricular portions of the heart. This causes major problems in some children to gain weight, and even breathe well, and they often need diuretics before surgery. These defects should be closed before 6 months of age, and i hope this baby is being closely followed! ...Read more

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Complete avsd size 29 mm in three month child with pah and av valve regurgitetion is there could it repair ?

Complete avsd size 29 mm in three month child with pah and  av valve regurgitetion  is there  could it repair ?

Yes: A complete evaluation is necessary, but avsd is usually repaired at a few months of age. Av valve regurgitation is frequently associated and may be due to a "cleft" or slit like defect in the left side of the common av valve. This can also be addressed at the time of repair. ...Read more

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My sis undergoes mitral valve repair in 2009. Echo shows large la. But patient shows no sympton other then little faster heartbeat. Is it emergency?

My sis undergoes mitral valve repair in 2009. Echo shows large la. But patient shows no sympton other then little faster heartbeat. Is it emergency?

Not emergency: Mitral valve repair is typically done for a leaky mitral valve (mitral regurgitation). A severe degree of mitral regurgitation is likely to result in enlargement of the left atrium (la). After repair of the mitral valve, an enlarged la would be expected to remain. An enlarged left atrium may predispose a patient to atrial fibrillation. ...Read more

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Complete avsd size 29 mm in three month child with pah and av regurgitation is there. Could it be repaired?

Yes : Usually if it's a balanced avsd (normal sized ventricles) then regardless of defect size it is repairable . Pah at the age of three months is usually not fixed (reversible) and most probably secondary to the large left to right shunt. Even if the baby has down syndrome, at three months of age pah is usually reversible. Av valve regurg is part of avsd and does not preclude patient from repair. ...Read more

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Hi: if I have mobitz 1 av block and also SVT - does it mean my heart block can get worse because of the "underlying disease" it associated with?

Hi:  if I have mobitz 1 av block and also SVT - does it mean my heart block can get worse because of the "underlying disease" it associated with?

Not necessarily: Both mobitz 1 second degree heart block and svt occur in structurally normal hearts. So, unless there's more to this story, you don't necessarily have "underlying disease." hence there may never be any progression. To the contrary, you might find it gets better with age. ...Read more

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Hello.Can be done Nuss procedure if I have right bundle brand block plus insignificant mitral valve prolapse and suspected Marfan syndrome?

Nuss procedure: The co existing conditions do not contraindicate the procedure;find a center of physician with some experience for more definitive advice at your age ...Read more