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1.

Familial dilated cardiomyopathy

Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes stretched out in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. Eventually, all four chambers of the heart become dilated as the cardiac muscle tries to increase the amount of blood being pumped through the heart. However, as the cardiac muscle becomes increasingly thin and weakened, it is less able to pump blood. Over time, this condition results in heart failure. It usually takes many years for symptoms of familial dilated cardiomyopathy to appear. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.
[from GHR]

MedGen UID:
90951
Concept ID:
C0340427
Disease or Syndrome
2.

Dilated cardiomyopathy

Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. [from HPO]

MedGen UID:
504887
Concept ID:
CN001497
Finding
3.

Cardiomyopathy

A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. [from HPO]

MedGen UID:
504883
Concept ID:
CN001491
Finding
4.

Dilated cardiomyopathy 1A

LMNA-related dilated cardiomyopathy (DCM) is caused by mutations in LMNA and is characterized by left ventricular enlargement and reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias. LMNA-related DCM usually presents in early to mid-adulthood with symptomatic conduction system disease or arrhythmias, or with symptomatic DCM including heart failure or embolus from a left ventricular mural thrombus. Sudden cardiac death can occur, and in some instances is the presenting manifestation; sudden cardiac death may occur with little systolic dysfunction. [from GeneReviews]

MedGen UID:
258500
Concept ID:
C1449563
Disease or Syndrome
5.

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
6.

Primary dilated cardiomyopathy

Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. DCM usually presents with any one of the following: Heart failure with symptoms of congestion (edema, orthopnea, paroxysmal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion). Arrhythmias and/or conduction system disease. Thromboembolic disease (from left ventricular mural thrombus) including stroke . [from GeneReviews]

MedGen UID:
2880
Concept ID:
C0007193
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.

Heart failure

Heart failure is a condition in which the heart can't pump enough blood to meet the body's needs. Heart failure does not mean that your heart has stopped or is about to stop working. It means that your heart is not able to pump blood the way it should. It can affect one or both sides of the heart. The weakening of the heart's pumping ability causes: -Blood and fluid to back up into the lungs. -The buildup of fluid in the feet, ankles and legs - called edema. -Tiredness and shortness of breath. Common causes of heart failure are coronary artery disease, high blood pressure and diabetes. It is more common in people who are 65 years old or older, African Americans, people who are overweight, and people who have had a heart attack. Men have a higher rate of heart failure than women. Your doctor will diagnose heart failure by doing a physical exam and heart tests. Treatment includes treating the underlying cause of your heart failure, medicines, and heart transplantation if other treatments fail. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
6749
Concept ID:
C0018801
Disease or Syndrome
9.

Dilation

The condition of being dilated or stretched. [from NCI]

MedGen UID:
811361
Concept ID:
C3714529
Finding
10.

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
11.

Disease-causing Mutation

A gene alteration that causes or predisposes an individual to a specific disease. [from NCI]

MedGen UID:
457660
Concept ID:
C2985434
Cell or Molecular Dysfunction
12.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
13.

Dilated cardiomyopathy 1G

Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. DCM usually presents with any one of the following: Heart failure with symptoms of congestion (edema, orthopnea, paroxysmal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion). Arrhythmias and/or conduction system disease. Thromboembolic disease (from left ventricular mural thrombus) including stroke . [from GeneReviews]

MedGen UID:
347714
Concept ID:
C1858763
Disease or Syndrome
14.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
15.

Onset

The start, beginning, or early stages. [from NCI]

MedGen UID:
87142
Concept ID:
C0332162
16.

disease transmission

Transmission of disease from one individual to another. [from PSY]

MedGen UID:
66979
Concept ID:
C0242781
Pathologic Function
17.

Amino acid

One of several molecules that join together to form proteins. There are 20 common amino acids found in proteins. [from NCI]

MedGen UID:
250
Concept ID:
C0002520
Pharmacologic Substance
18.

Myocardial Diseases, Secondary

MedGen UID:
19916
Concept ID:
C0036529
Disease or Syndrome
19.

Primary 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
20.

Linkage (Genetics)

The association in inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. [from MeSH]

MedGen UID:
6102
Concept ID:
C0023745
Molecular Function

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