U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Dilated cardiomyopathy 1Y(CMD1Y)

MedGen UID:
437215
Concept ID:
C2678476
Disease or Syndrome
Synonyms: CMD1Y; TPM1-Related Dilated Cardiomyopathy
 
Gene (location): TPM1 (15q22.2)
 
Monarch Initiative: MONDO:0012744
OMIM®: 611878

Definition

Dilated cardiomyopathy-1Y (CMD1Y) is characterized by severe progressive cardiac failure, resulting in death in the third to sixth decades of life in some patients. Electron microscopy shows an abnormal sarcomere structure (Olson et al., 2001). In left ventricular noncompaction-9 (LVNC9), patients may present with cardiac failure or may be asymptomatic. Echocardiography shows noncompaction of the apex and midventricular wall of the left ventricle (Probst et al., 2011). Some patients also exhibit Ebstein anomaly of the tricuspid valve (Kelle et al., 2016) and some have mitral valve insufficiency (Nijak et al., 2018). [from OMIM]

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.
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.
Ebstein anomaly
MedGen UID:
4435
Concept ID:
C0013481
Congenital Abnormality
Ebstein anomaly is characterized by downward displacement of variable severity of the tricuspid valve into the right ventricle. The valve leaflets may be dysplastic, and a variable portion of the proximal part of the right ventricle is in continuity with the right atrium ('atrialized'), because of the abnormally positioned tricuspid valve. The severity of this defect includes a spectrum ranging from severe disturbance in fetal and neonatal life to virtually asymptomatic survival to adult life. Associated extracardiac anomalies in the setting of chromosomal or mendelian disorders occur in about 20% of patients with Ebstein anomaly. Nonsyndromic Ebstein anomaly can occur as a sporadic or a familial defect (summary by Digilio et al., 2011).
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
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.
Mitral regurgitation
MedGen UID:
7670
Concept ID:
C0026266
Disease or Syndrome
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Ventricular tachycardia
MedGen UID:
12068
Concept ID:
C0042514
Finding
A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).
Left ventricular noncompaction cardiomyopathy
MedGen UID:
866782
Concept ID:
C4021133
Disease or Syndrome
Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.
Increased left ventricular end-diastolic volume
MedGen UID:
1660169
Concept ID:
C4748648
Finding
Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Ikeda Y, Inomata T, Fujita T, Iida Y, Kaida T, Nabeta T, Ishii S, Maekawa E, Yanagisawa T, Mizutani T, Naruke T, Koitabashi T, Takeuchi I, Ako J
Heart Vessels 2017 Apr;32(4):446-457. Epub 2016 Sep 26 doi: 10.1007/s00380-016-0895-x. PMID: 27672077
Lotze U, Kaepplinger S, Kober A, Richartz BM, Gottschild D, Figulla HR
J Nucl Med 2001 Jan;42(1):49-54. PMID: 11197980

Diagnosis

Man Y, Yi C, Fan M, Yang T, Liu P, Liu S, Wang G
Medicine (Baltimore) 2022 Jan 14;101(2):e28551. doi: 10.1097/MD.0000000000028551. PMID: 35029218Free PMC Article

Therapy

Toyama T, Hoshizaki H, Yoshimura Y, Kasama S, Isobe N, Adachi H, Oshima S, Taniguchi K
J Nucl Cardiol 2008 Jan-Feb;15(1):57-64. Epub 2007 Nov 5 doi: 10.1016/j.nuclcard.2007.08.006. PMID: 18242480
Lotze U, Kaepplinger S, Kober A, Richartz BM, Gottschild D, Figulla HR
J Nucl Med 2001 Jan;42(1):49-54. PMID: 11197980

Prognosis

Ikeda Y, Inomata T, Fujita T, Iida Y, Kaida T, Nabeta T, Ishii S, Maekawa E, Yanagisawa T, Mizutani T, Naruke T, Koitabashi T, Takeuchi I, Ako J
Heart Vessels 2017 Apr;32(4):446-457. Epub 2016 Sep 26 doi: 10.1007/s00380-016-0895-x. PMID: 27672077
Lotze U, Kaepplinger S, Kober A, Richartz BM, Gottschild D, Figulla HR
J Nucl Med 2001 Jan;42(1):49-54. PMID: 11197980

Clinical prediction guides

Toyama T, Hoshizaki H, Yoshimura Y, Kasama S, Isobe N, Adachi H, Oshima S, Taniguchi K
J Nucl Cardiol 2008 Jan-Feb;15(1):57-64. Epub 2007 Nov 5 doi: 10.1016/j.nuclcard.2007.08.006. PMID: 18242480

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...