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Items: 16

1.

Cardiac hypertrophy

Enlargement of the HEART due to chamber HYPERTROPHY, an increase in wall thickness without an increase in the number of cells (MYOCYTES, CARDIAC). It is the result of increase in myocyte size, mitochondrial and myofibrillar mass, as well as changes in extracellular matrix. [from MeSH]

MedGen UID:
237196
Concept ID:
C1383860
Pathologic Function
2.

Congestive heart failure

The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. [from HPO]

MedGen UID:
504881
Concept ID:
CN001488
Finding
3.

Ventricular hypertrophy

Electrocardiographic findings suggestive of enlarged cardiac ventricles. (NCI) [from NCI]

MedGen UID:
415872
Concept ID:
C2911650
Finding
4.

Zonular cataract

Zonular cataracts are defined to be cataracts that affect specific regions of the lens. [from HPO]

MedGen UID:
350517
Concept ID:
C1861821
Disease or Syndrome
5.

Cerebral cavernous malformation

Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord comprising closely clustered, enlarged capillary channels (caverns) with a single layer of endothelium without mature vessel wall elements or normal intervening brain parenchyma. The diameter of CCMs ranges from a few millimeters to several centimeters. CCMs increase or decrease in size and increase in number over time. Hundreds of lesions may be identified, depending on the person’s age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades with findings such as seizures, focal neurologic deficits, nonspecific headaches, and cerebral hemorrhage. Up to 50% of individuals with CCM remain symptom free throughout their lives. Familial cerebral cavernous malformation (FCCM) is defined as the occurrence of CCMs in at least two family members and/or the presence of multiple CCMs and/or the presence of a disease-causing mutation in one of the three genes in which mutations are known to cause familial CCM. Cutaneous vascular lesions are found in 9% of those with FCCM and retinal vascular lesions in almost 5%. [from GeneReviews]

MedGen UID:
349362
Concept ID:
C1861784
Disease or Syndrome
6.

Ventricular hypertrophy

Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy. [from HPO]

MedGen UID:
87400
Concept ID:
C0340279
Disease or Syndrome
7.

Congestive heart failure

Heart failure accompanied by EDEMA, such as swelling of the legs and ankles and congestion in the lungs. [from MeSH]

MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
8.

Ataxia-telangiectasia syndrome

Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. AT cells are abnormally sensitive to killing by ionizing radiation (IR), and abnormally resistant to inhibition of DNA synthesis by ionizing radiation. The latter trait has been used to identify complementation groups for the classic form of the disease (Jaspers et al., 1988). At least 4 of these (A, C, D, and E) map to chromosome 11q23 (Sanal et al., 1990) and are associated with mutations in the ATM gene. [from NCBI]

MedGen UID:
439
Concept ID:
C0004135
Congenital Abnormality; Disease or Syndrome
9.

Cardiomyopathy

Cardiomyopathy is the name for diseases of the heart muscle. These diseases enlarge your heart muscle or make it thicker and more rigid than normal. In rare cases, scar tissue replaces the muscle tissue. Some people live long, healthy lives with cardiomyopathy. Some people don't even realize they have it. In others, however, it can make the heart less able to pump blood through the body. This can cause serious complications, including . - Heart failure . - Abnormal heart rhythms . - Heart valve problems. - Sudden cardiac arrest. Heart attacks, high blood pressure, infections, and other diseases can all cause cardiomyopathy. Some types of cardiomyopathy run in families. In many people, however, the cause is unknown. Treatment might involve medicines, surgery, other medical procedures, and lifestyle changes. . NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
10.

Subaortic stenosis

A pathological constriction occurring in the region below the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA. [from MeSH]

MedGen UID:
90950
Concept ID:
C0340375
Disease or Syndrome
11.

Idiopathic cardiomyopathy

Disease of the heart muscle associated with electrical or mechanical dysfunction, in which the heart is the sole or predominantly involved organ. [from SNOMEDCT_US]

MedGen UID:
18634
Concept ID:
C0033141
Disease or Syndrome
12.

cardiac valvular disease

Your heart has four valves. Normally, these valves open to let blood flow through or out of your heart, and then shut to keep it from flowing backward. But sometimes they don't work properly. If they don't, you could have. -Regurgitation - when blood leaks back through the valve in the wrong direction. -Mitral valve prolapse - when one of the valves, the mitral valve, has floppy flaps and doesn't close tightly. It's one of the most common heart valve conditions. Sometimes it causes regurgitation. -Stenosis - when the valve doesn't open enough and blocks blood flow. Valve problems can be present at birth or caused by infections, heart attacks, or heart disease or damage. The main sign of heart valve disease is an unusual heartbeat sound called a heart murmur. Your doctor can hear a heart murmur with a stethoscope. But many people have heart murmurs without having a problem. Heart tests can show if you have a heart valve disease. Some valve problems are minor and do not need treatment. Others might require medicine, medical procedures, or surgery to repair or replace the valve. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
5463
Concept ID:
C0018824
Disease or Syndrome
13.

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
14.

Hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. [from HPO]

MedGen UID:
2881
Concept ID:
C0007194
Disease or Syndrome
15.

Disorder of cardiovascular system

Any abnormality of the cardiovascular system. [from HPO]

MedGen UID:
2848
Concept ID:
C0007222
Disease or Syndrome
16.

Aortic valve stenosis

constriction in the opening of the aortic valve or of the supravalvular or subvalvular regions. [from CRISP]

MedGen UID:
1621
Concept ID:
C0003507
Disease or Syndrome
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