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Dilated cardiomyopathy 1AA(CMD1AA)

MedGen UID:
393713
Concept ID:
C2677338
Disease or Syndrome
Synonyms: ACTN2-Related Dilated Cardiomyopathy; CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 23, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; CMD1AA
 
Gene (location): ACTN2 (1q43)
 
Monarch Initiative: MONDO:0012808
OMIM®: 612158

Definition

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene. [from MONDO]

Clinical features

From HPO
Atrial fibrillation
MedGen UID:
445
Concept ID:
C0004238
Finding
An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.
Atrioventricular block
MedGen UID:
13956
Concept ID:
C0004245
Disease or Syndrome
Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.
Primary dilated cardiomyopathy
MedGen UID:
2880
Concept ID:
C0007193
Disease or Syndrome
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.\n\nIt 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.
Hypertrophic cardiomyopathy
MedGen UID:
2881
Concept ID:
C0007194
Disease or Syndrome
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.
Endocardial fibroelastosis
MedGen UID:
4041
Concept ID:
C0014117
Disease or Syndrome
Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction
Cardiac arrest
MedGen UID:
5456
Concept ID:
C0018790
Finding
An abrupt loss of heart function.
Supraventricular tachycardia
MedGen UID:
52635
Concept ID:
C0039240
Disease or Syndrome
Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.
Left ventricular hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
Endomyocardial fibrosis
MedGen UID:
107513
Concept ID:
C0553980
Finding
The presence of excessive connective tissue in the endocardium.
Left ventricular noncompaction
MedGen UID:
450531
Concept ID:
C1960469
Disease or Syndrome
Left ventricular noncompaction is a heart (cardiac) muscle disorder that occurs when the lower left chamber of the heart (left ventricle), which helps the heart pump blood, does not develop correctly. Instead of the muscle being smooth and firm, the cardiac muscle in the left ventricle is thick and appears spongy. The abnormal cardiac muscle is weak and has an impaired ability to pump blood because it either cannot completely contract or it cannot completely relax. For the heart to pump blood normally, cardiac muscle must contract and relax fully.\n\nSome individuals with left ventricular noncompaction experience no symptoms at all; others have heart problems that can include sudden cardiac death. Additional signs and symptoms include abnormal blood clots, irregular heart rhythm (arrhythmia), a sensation of fluttering or pounding in the chest (palpitations), extreme fatigue during exercise (exercise intolerance), shortness of breath (dyspnea), fainting (syncope), swelling of the legs (lymphedema), and trouble laying down flat. Some affected individuals have features of other heart defects. Left ventricular noncompaction can be diagnosed at any age, from birth to late adulthood. Approximately two-thirds of individuals with left ventricular noncompaction develop heart failure.
Myofiber disarray
MedGen UID:
1615672
Concept ID:
C3671015
Finding
A nonparallel arrangement of cardiac myocytes.
Cardiomyocyte hypertrophy
MedGen UID:
909741
Concept ID:
C4227331
Finding
An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Kakhi S, Phanish MK, Anderson L
Transplant Proc 2020 Nov;52(9):2758-2761. Epub 2020 Jul 20 doi: 10.1016/j.transproceed.2020.06.011. PMID: 32703671

Diagnosis

Fidalgo A, Fernandez-Friera L, Solis J
Heart 2018 Dec;104(24):2025-2043. Epub 2018 Sep 4 doi: 10.1136/heartjnl-2018-313347. PMID: 30181199

Therapy

Kakhi S, Phanish MK, Anderson L
Transplant Proc 2020 Nov;52(9):2758-2761. Epub 2020 Jul 20 doi: 10.1016/j.transproceed.2020.06.011. PMID: 32703671

Prognosis

Au Y, Atkinson RA, Guerrini R, Kelly G, Joseph C, Martin SR, Muskett FW, Pallavicini A, Faulkner G, Pastore A
Structure 2004 Apr;12(4):611-22. doi: 10.1016/j.str.2004.02.019. PMID: 15062084

Clinical prediction guides

Kakhi S, Phanish MK, Anderson L
Transplant Proc 2020 Nov;52(9):2758-2761. Epub 2020 Jul 20 doi: 10.1016/j.transproceed.2020.06.011. PMID: 32703671
Au Y, Atkinson RA, Guerrini R, Kelly G, Joseph C, Martin SR, Muskett FW, Pallavicini A, Faulkner G, Pastore A
Structure 2004 Apr;12(4):611-22. doi: 10.1016/j.str.2004.02.019. PMID: 15062084

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