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Doctor insights on: Congenital Hypoventilation

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Are congenital heart defects hereditary?

Are congenital heart defects hereditary?

Depends on variables: There are a few syndromes with high frequency of specific heart defects that can have inheritance risk up to 50%. Most, however, are part of a complex inheritance pattern with around 5% risk.This 5% would include any pattern of congenital heart defect, not necessarily the same one. ...Read more

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Is pulmonary hypertension acquired disease?

Is pulmonary hypertension acquired disease?

Generally yes: Usually, it is acquired; however, up to 5% of patients with pulmonary arterial hypertension (PAH) may have a genetic or heritable cause. ...Read more

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Is congenital heart disease genetic?

Is congenital heart disease genetic?

Some of it: Even though 8 out of every 1000 babies born will have have some form of heart defect, when there is a first line family member affected the number goes up to about 16-30/1000 (for some particular defects this number will be higher) so this would suggest a genetic component...We just haven't learned enough about genetics and the heart to be more precise, but this is changing every day. ...Read more

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Pulmonary hypertension and artial septal defect?

Pulmonary hypertension and artial septal defect?

PH and ASD: One cause of elevated blood pressure in the lungs, called pulmonary hypertension (PH) is an abnormal connection between the heart chambers such as an atrial septal defect that connects the top 2 compartments. ...Read more

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Artrial septial defect with pulmonary hypertension in children?

Artrial septial defect with pulmonary hypertension in children?

Talk to MD: As long as there is no reversal of flow which can happen soon due to pulmonary hypertension, a surgical repair may be beneficial. The answer should be given by a cardiologist. Talk to the cardiologist please for your child's sake. Good luck. ...Read more

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Are congenital heart defects usually deadly?

Are congenital heart defects usually deadly?

No: In fact, most babies with congenital heart disease are expected to reach adulthood. Some of the more severe lesions have up to a 30% mortality in the first year, however these are less common than the more treatable defects. ...Read more

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What is fontan operation in congenital heart defects?

What is fontan operation in congenital heart defects?

Fontan Procedure: The fontan is a surgery that connects the inferior venacava (ivc) to the pulmonary arteries. The fontan is the final surgery for patients who have a single ventricle or single ventricle physiology. This means that the blue blood, desaturated blood retruning to the heart is directed to the lungs without being pumped through the heart. ...Read more

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What genetic syndromes associated with congenital hydronephrosis ?

What genetic syndromes associated with congenital hydronephrosis ?

Genetics : There are many causes of hydronephrosis. Often hydronephrosis is found on prenatal ultrasounds but is not seen on postnatal ultrasounds. Any kidney or bladder malformation can cause hydronephrosis. In infants, posterior urethral valves, kidney stones, cystic kidneys, abdminal masses or any stenosis of the urethra or ureters may cause hydronephrosis. ...Read more

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Is pulmonary hypertension an inherited disease?

Is pulmonary hypertension an inherited disease?

Sometimes: There are some forms of pulmonary HTN that are inherited and there are some conditions that lead to pul HTN that are inherited but there are also forms of pul HTN that are not inherited. ...Read more

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Is asd (atrial septal defect) known as a hereditary condition?

Possibly: While there are some reports of familial clusters, generally it is a congenital condition affecting caused by a developmental defect. ...Read more

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Define?accute anteroseptal myocardial infarction, atherosclerotic obstructive coronary artery disease, pulmonary edema, cardiogenic shock, hypokalemia

Define?accute anteroseptal myocardial infarction, atherosclerotic obstructive coronary artery disease, pulmonary edema, cardiogenic shock, hypokalemia

Here are some...: A 400-letter space is impossible to address many indicated subjects as questioned here. Why not type in the terms as keywords to search online? Thereby you surely gain a lot of pertinent information to feed your appetite of knowledge. Or you may just ask your doc who should be able to answer your questions to the point much easier. ...Read more

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Is pulmonary hypertension always present in atrial septal defect?

Is pulmonary hypertension always present in atrial septal defect?

No: People with asds do not always have pulmonary hypertension. An untreated ASD can potentially lead to pulmonary hypertension over a long period of time. But it's not always present. ...Read more

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Is ventricular or atrial septal defect hereditary?

Most cases no: The chances of being born with a heart defect are approximately 8 per every thousand deliveries (a little under 1%). Most babies born with a heart defect (asd, vsd or any of a multitude of others) have no family members with heart disease. Now, when there is a first line family member with a heart defect the chances increase to about 2-3%, so there may be some genetic component. ...Read more

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Can coarctation of aorta cause cyanosis? Is cyanosis due to hypoxia?

Can coarctation of aorta cause cyanosis? Is cyanosis due to hypoxia?

Not in isolation: Coarctation only causes cyanosis when it is associated with other heart disease that allows blue blood to cross over to the red blood side. Cyanosis occurs in two situations: 1. When blue blood gets to the red blood side ("right-to-left shunting) or 2. When blood is not fully oxygenated in the lungs ("pulmonary venous desaturation"). ...Read more

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Can Maccune Albright syndrome cause hyperthyroidism?

Can Maccune Albright syndrome cause hyperthyroidism?

McCune Albright: McCune -Albright syndrome is associated with excess hormone production, including hyperthyroidism. People with this condition should be screened regularly. ...Read more

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How often do?Congenital heart disease present as?Heart failure?

Rarely in utero.: Even severe fetal cardiac defects rarely cause fetal hydrops or heart failure. On the other hand, many severe defects can present as florid cardiac failure in the nursery or the first few days/weeks of life and prompt expert care is mandatory. See: http://texaschildrens.Org/locate/doctors/ayres, -nancy/. ...Read more

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Can a stroke be congenital?

Can a stroke be congenital?

Sort of: You can have a stroke in the uterus (extremely, extremely rare) or any time after you are born. It is not really 'congenital' per se. What could be considered congenital would be risk factors such as a genetic predisposition to develop aneurysms in your brain or vascular malformations in your brain or bad athersclerotic disease of the arteries (hardening of the arteries). ...Read more

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Is lymphangioma congenital ?

Is lymphangioma congenital
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Yes: Yes lymphangioma is a congenital condition in the sense that it is something that a baby is born with. But it is also something that can progressively enlarge after birth. ...Read more

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What is a congenital "blebs" ?

What is a congenital "blebs" ?

A Bubble: Congenital means you are born with it, as opposed to acquiring it. A bleb is a small bubble or blister. The words "congenital blebs" are most common used to describe air sacs arising from the upper lung. Small ones are no problem, while larger blebs can pop, causing the lung to collapse (spontaneus pneumothorax). These are most common in people with tall thin torsos. Not sure if that's your bleb. ...Read more

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Is moyamoya a congenital disease?

Is moyamoya a congenital disease?

YES: Moyamoya disease is generally a congenital disease affecting the arteries of the brain causing them to gradually occlude. Fortunately, collaterals develop to supply blood to critical areas of the brain. These vessels can be frail and are prone to bleeding - which can cause a stroke. ...Read more

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Is Down's syndome a congenital disorder?

Is Down's syndome a congenital disorder?

Down's Syndrome: Is a congenital disorder where an affected person has extra genetic material at Chromosome 21. It is the most common genetic condition in the United States. ...Read more

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What are some congenital metabolic errors?

What are some congenital metabolic errors?

Several: Phenylketonuria (PKU), congenital hypothyroidism, galactosemia, congenital adrenal hyperplasia, glucose-6-phosphate dehydrogenase deficiency, maple syrup urine disease, medium chain acyl-CoA dehydrogenase deficiency, homocystinuria, glutaric academia type I, isovaleric acidemia and methylmalonic academia. These 11 congenital metabolic disorders are included in the newborn screening program. ...Read more

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Whats congenital generalized lipodystrophy?

Whats congenital generalized lipodystrophy?

Fat distribution: This is very rare and both parents are typically carriers. The tissue under the skin has almost no fat under it. Instead, fat accumulates inside muscles, liver, heart. Triglycerides get very high and patients are resistant to insulin. Kids may develop early pubic hair and get diabetes. There are many more details. This condition is very serious. ...Read more

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What is the most lethal congenital deformity?

What is the most lethal congenital deformity?

Cardiac defects: Depends on how you want to start? The most lethal would be if the defects (such as anencephaly or hypoplastic left heart syndrome) cause stillbirth (late fetal death) or infant death or pregnancies are terminated after the prenatal diagnosis of fetal defects in more than 50% of cases. ...Read more

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What is congenital fusion of the spinous process?

What is congenital fusion of the spinous process?

Unusual: Its an unusual defect ...means that the top portions of the vertebrae are connected.. not of any concern unless interferes with motion (flexion/extension) Hope this helps Dr Z ...Read more

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Are most babies with congenital deformities aborted?

Are most babies with congenital deformities aborted?

Actually...: ...Most severely malformed babies are miscarried rather than aborted on purpose. They usually die in utero before maturity. As for elective abortion, it is a deeply personal, difficult decision. I would hesitate to say that "most" babies found to be deformed on prenatal tests are aborted, but it is certainly an option many consider. ...Read more

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I was wondering what are congenital metabolic errors?

I was wondering what are congenital metabolic errors?

Errors in code: We are born with detailed information in our dna (genes) that direct the formation of the specific protein, fat and sugar structures needed for our body to function. If/when there is a mutation in the genes, that information can be changed to the point it will not work. The enzymes or co factors are lost and the system breaks down.There are thousands of these potential errors, pku is a common one. ...Read more

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What is leber's congenital amaurosis? What causes it?

What is leber's congenital amaurosis? What causes it?

Rare retinal disease: This is a rare disorder of the retina that occurs a few times in 100,000 births, associated with abnormal eye movements , far sightedness, severe vision problems from birth, and light sensitivity. It's exact cause is unknown, and is one of the most common causes of blindness in children ...Read more

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Should I remove a cateract after 50 years (congenital)?

Should I remove a cateract after 50 years (congenital)?

It depends: Age of cataract is not as important as vision loss and potential vision improvement. If your cataract has caused worse vision over the last few months or years then it is appropriate to have it removed. If the vision in that eye was never great and does not seem much different, there may not be a benefit in removing it. Speak to your eye doctor and have a thorough examination before deciding. ...Read more

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Could you explain what is leber's congenital amaurosis?

Could you explain what is leber's congenital amaurosis?

Genetic eye problem: A rare congenital eye disorder that affects one in 80, 000. Affected infants are often blind at birth. Other symptoms may include crossed eyes (strabismus); rapid, involuntary eye movements (nystagmus); unusual sensitivity to light (photophobia); clouding of the lenses of the eyes (cataracts); and/or a cone shape to the front of the eye (keratoconus). Inherited as an autosomal recessive condition. ...Read more

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What are the symptoms of congenital insensitivity to pain?

What are the symptoms of congenital insensitivity to pain?

Pain: Is a rare condition in which the person does not feel physical pain and has a genetic predisposition . Patients can still feel if somebody is touching them and they have no physical abnormalities . Consult with a neurologist for more information ...Read more

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What are the most likely causes of congenital sensory loss?

What are the most likely causes of congenital sensory loss?

Aplasia: Aplasia- means lack of growth. The lack of growth of the middle ear cochlea is a common cause. Another common cause is called a choleseatoma- its a growth that destroys the hearing apparatus in the middle ear. A rarer cause of congenital loss is rubella. ...Read more

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What is the difference between hypoventilation and bradypnea?

What is the difference between hypoventilation and bradypnea?

I can't think: of one except hypoventilation may relate to low volume expansion of lungs and bradypnea refers to low rate of respiration,but they are used interchangeably ...Read more

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What are common symptoms of congenital insensitivity to pain?

2 types:: There are generally 2 types of non-response exhibited in cip: 1. Insensitivity to pain: painful stimulus is not even perceived: a patient cannot describe the intensity or type of pain. 2. Indifference to pain: a patient can perceive the stimulus, but lacks an appropriate response: they will not flinch or withdraw when exposed to pain. Cognition and sensation are normal! ...Read more

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Hi doctors, was just wondering what is congenital hypothroldism?

Hi doctors, was just wondering what is congenital hypothroldism?

Congenital: hypothyroidism is a condition in the newborn of low or nonfunctioning thyroid. It can occur because of abnormal thyroid gland anatomy, inborn errors of metabolism or nutritional deficiency of hormone precursors. Rarely, maternal antibodies cross the placenta and cause the disruption. This is one of the disorders routinely checked for in newborn metabolic screens. ...Read more

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What class of congenital disorders is ureterocele? Is it class A?

What class of congenital disorders is ureterocele? Is it class A?

Here are some...: Ureterocele is a congenital ballooning (dilation like a balloon) of the very ending part of about 1-2 cm (lying inside the bladder wall, but fortunately most of cases are incidentally found with no detrimental effect to your health. As to its class, I assumed you refer to the size or severity to urinary health. For individual detail, ask the treating Urologist timely so to correlate with yours. ...Read more