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Items: 1 to 20 of 36

1.

Hypoplastic right heart; intrauterine growth retardation

MedGen UID:
850712
Concept ID:
CN231400
Finding
2.

Hypoplastic right heart; tricuspid atresia; muscular ventricular septal defect; single umbilical artery

MedGen UID:
850701
Concept ID:
CN231394
Finding
3.

Double outlet right ventricle

Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle. [from HPO]

MedGen UID:
41649
Concept ID:
C0013069
Congenital Abnormality
4.

Multiple congenital anomalies

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
5.

Interrupted aortic arch

Non-continuity of the arch of aorta with an atretic point or absent segment. [from HPO]

MedGen UID:
506593
Concept ID:
CN167339
Finding
6.

Double outlet right ventricle

Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle. [from HPO]

MedGen UID:
504930
Concept ID:
CN001564
Finding
7.

Interrupted aortic arch type B

Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries. [from HPO]

MedGen UID:
488875
Concept ID:
C0345093
Congenital Abnormality
8.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
9.

Ventricular septal defect

MedGen UID:
347827
Concept ID:
C1859213
Finding
10.

Spondylometaepiphyseal dysplasia short limb-hand type

MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
11.

Interrupted aortic arch

Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.Although babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.Some people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.Each of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.People with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.
[from GHR]

MedGen UID:
57773
Concept ID:
C0152419
Congenital Abnormality; Disease or Syndrome
12.

Ventricular septal defect

Developmental abnormalities in any portion of the VENTRICULAR SEPTUM resulting in abnormal communications between the two lower chambers of the heart. Classification of ventricular septal defects is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. [from MeSH]

MedGen UID:
42366
Concept ID:
C0018818
Anatomical Abnormality; Finding
13.

Transposition of the great arteries

Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.Although babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.Some people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.Each of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.People with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.
[from GHR]

MedGen UID:
21245
Concept ID:
C0040761
Congenital Abnormality
14.

Congenital septal defect

Abnormalities in any part of the HEART SEPTUM resulting in abnormal communication between the left and the right chambers of the heart. The abnormal blood flow inside the heart may be caused by defects in the ATRIAL SEPTUM, the VENTRICULAR SEPTUM, or both. [from MeSH]

MedGen UID:
6752
Concept ID:
C0018816
Congenital Abnormality; Disease or Syndrome
15.

Malformation of the heart

A congenital heart defect is a problem with the structure of the heart. It is present at birth. Congenital heart defects are the most common type of birth defect. The defects can involve the walls of the heart, the valves of the heart, and the arteries and veins near the heart. They can disrupt the normal flow of blood through the heart. The blood flow can slow down, go in the wrong direction or to the wrong place, or be blocked completely. Doctors use a physical exam and special heart tests to diagnose congenital heart defects. They often find severe defects during pregnancy or soon after birth. Signs and symptoms of severe defects in newborns include. -Rapid breathing. -Cyanosis - a bluish tint to the skin, lips, and fingernails. -Fatigue. -Poor blood circulation. Many congenital heart defects cause few or no signs and symptoms. They are often not diagnosed until children are older. Many children with congenital heart defects don't need treatment, but others do. Treatment can include medicines, catheter procedures, surgery, and heart transplants. The treatment depends on the type of the defect, how severe it is, and a child's age, size, and general health. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
6748
Concept ID:
C0018798
Congenital Abnormality
16.

Heart disease

If you're like most people, you think that heart disease is a problem for others. But heart disease is the number one killer in the U.S. It is also a major cause of disability. There are many different forms of heart disease. The most common cause of heart disease is narrowing or blockage of the coronary arteries, the blood vessels that supply blood to the heart itself. This is called coronary artery disease and happens slowly over time. It's the major reason people have heart attacks. Other kinds of heart problems may happen to the valves in the heart, or the heart may not pump well and cause heart failure. Some people are born with heart disease. You can help reduce your risk of heart disease by taking steps to control factors that put you at greater risk:. - Control your blood pressure. - Lower your cholesterol. - Don't smoke. - Get enough exercise. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
5458
Concept ID:
C0018799
Disease or Syndrome
17.

Disorder of cardiovascular system

Any abnormality of the cardiovascular system. [from HPO]

MedGen UID:
2848
Concept ID:
C0007222
Disease or Syndrome
18.

Congenital atrioventricular dissociation

A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset. [from HPO]

MedGen UID:
870839
Concept ID:
C4025299
Congenital Abnormality; Disease or Syndrome
19.

Adrenal medullary hypoplasia

Developmental hypoplasia of the adrenal medulla. [from HPO]

MedGen UID:
870276
Concept ID:
C4024717
Finding
20.

Malformation of the heart and great vessels

MedGen UID:
808094
Concept ID:
CN221285
Disease or Syndrome
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