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1.

Primary familial hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is typically defined by the presence of unexplained left ventricular hypertrophy (LVH). Such LVH occurs in a non-dilated ventricle in the absence of other cardiac or systemic disease capable of producing the observed magnitude of increased LV wall thickness, such as pressure overload (e.g., long-standing hypertension, aortic stenosis) or storage/infiltrative disorders (e.g., Fabry disease, amyloidosis). The clinical manifestations of HCM range from asymptomatic LVH to progressive heart failure to sudden cardiac death (SCD), and vary from individual to individual even within the same family. Common symptoms include shortness of breath (particularly with exertion), chest pain, palpitations, orthostasis, presyncope, and syncope. Most often the LVH of HCM becomes apparent during adolescence or young adulthood, although it may also develop late in life, in infancy, or in childhood. [from GTR]

MedGen UID:
183649
Concept ID:
C0949658
Disease or Syndrome
2.

Hypertrophic cardiomyopathy

MedGen UID:
893691
Concept ID:
CN239543
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.

Cardiomyopathy

A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. [from NCI]

MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
5.

Hypertrophic cardiomyopathy

A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract. [from NCI]

MedGen UID:
2881
Concept ID:
C0007194
Disease or Syndrome
6.

Cardiomyopathies

MedGen UID:
881076
Concept ID:
CN236666
Disease or Syndrome
7.

Contraction

MedGen UID:
685783
Concept ID:
C1140999
Pathologic Function
8.

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
9.

Dilated cardiomyopathy 1A

LMNA-related dilated cardiomyopathy (DCM) is caused by pathogenic variants in LMNA and is characterized by left ventricular enlargement and/or 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 minimal or no systolic dysfunction. [from GTR]

MedGen UID:
258500
Concept ID:
C1449563
Disease or Syndrome
10.

Suffering

State of severe distress associated with events that threaten the intactness of the person, can be physical, mental, or emotional. [from SNOMEDCT_US]

MedGen UID:
151916
Concept ID:
C0683278
Mental or Behavioral Dysfunction
11.

Familial dilated cardiomyopathy

Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened 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. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.It usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. 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 GTR]

MedGen UID:
90951
Concept ID:
C0340427
Disease or Syndrome
12.

Transmission

A passage or transfer, as of a disease from one individual to another. [from NCI]

MedGen UID:
66979
Concept ID:
C0242781
Pathologic Function
13.

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 nocturnal 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 GTR]

MedGen UID:
2880
Concept ID:
C0007193
Disease or Syndrome
14.

Subaortic stenosis

A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve. [from HPO]

MedGen UID:
90950
Concept ID:
C0340375
Disease or Syndrome
15.

Point mutation

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. [from MeSH]

MedGen UID:
56498
Concept ID:
C0162735
Cell or Molecular Dysfunction
16.

Disease, Secondary Myocardial

MedGen UID:
19916
Concept ID:
C0036529
Disease or Syndrome
17.

Idiopathic cardiomyopathy

A disease of the heart muscle or myocardium proper whose cause is unknown. [from NCI]

MedGen UID:
18634
Concept ID:
C0033141
Disease or Syndrome
18.

Genetic Linkage

The co-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
19.

cardiac valvular disease

An abnormality of a cardiac valve. [from HPO]

MedGen UID:
5463
Concept ID:
C0018824
Disease or Syndrome
20.

Cardiomegaly

Abnormal enlargement of the heart. [from NCI]

MedGen UID:
5459
Concept ID:
C0018800
Finding
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