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Dilated cardiomyopathy 1D(CMD1D; LVNC6)

MedGen UID:
316943
Concept ID:
C1832243
Disease or Syndrome
Synonyms: Left ventricular noncompaction 6; TNNT2-Related Dilated Cardiomyopathy
 
Gene (location): TNNT2 (1q32.1)
 
Monarch Initiative: MONDO:0011095
OMIM®: 601494

Definition

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.

Some 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. [from MedlinePlus Genetics]

Clinical features

From HPO
Sudden cardiac death
MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
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.
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.
Sinus bradycardia
MedGen UID:
39316
Concept ID:
C0085610
Pathologic Function
Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.
Left ventricular hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
Prolonged QT interval
MedGen UID:
57494
Concept ID:
C0151878
Finding
Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
Incomplete right bundle branch block
MedGen UID:
82648
Concept ID:
C0262525
Disease or Syndrome
Right bundle branch block (RBBB) represents an abnormality in the intraventricular electrical conduction system of the human heart, generating enlarged QRS and modified vectors on the electrocardiogram (ECG). Incomplete RBBB (IRBBB) is defined by (i) QRS duration between 110 and 120 ms in adults; (ii) rsr, rsR, or rSR in leads V1 or V2. The R or r deflection is usually wider than the initial R wave. In a minority of patients, a wide and often notched R wave pattern may be seen in leads V1 and/or V2; (iii) S wave of greater duration than R wave or greater than 40 ms in leads I and V6 in adults; and (iv) Normal R peak time in leads V5 and V6 but greater than 50 ms in lead V1. The first 3 criteria should be present to make the diagnosis. When a pure dominant R wave with or without a notch is present in V1, criterion 4 should be satisfied.
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.
Reduced left ventricular ejection fraction
MedGen UID:
868398
Concept ID:
C4022792
Finding
A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.
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).
Increased circulating brain natriuretic peptide concentration
MedGen UID:
1779799
Concept ID:
C5539662
Finding
An increased concentration of brain natriuretic peptide in the blood circulation.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Zhao HP, Lü D, Zhang W, Zhang L, Wang SM, Ma CM, Qin C, Zhang LF
Acta Pharmacol Sin 2010 Mar;31(3):281-8. Epub 2010 Feb 15 doi: 10.1038/aps.2010.6. PMID: 20154713Free PMC Article
Mannting F, Zabrodina YV, Dass C
J Nucl Med 1999 Jun;40(6):889-94. PMID: 10452302
Riecansky I
Acta Cardiol 1995;50(3):209-13. PMID: 7676760

Diagnosis

Lewandowski D, Nabi F
Methodist Debakey Cardiovasc J 2022;18(3):87-88. Epub 2022 Jun 3 doi: 10.14797/mdcvj.1095. PMID: 35734149Free PMC Article
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

Zhao HP, Lü D, Zhang W, Zhang L, Wang SM, Ma CM, Qin C, Zhang LF
Acta Pharmacol Sin 2010 Mar;31(3):281-8. Epub 2010 Feb 15 doi: 10.1038/aps.2010.6. PMID: 20154713Free PMC Article
Riecansky I
Acta Cardiol 1995;50(3):209-13. PMID: 7676760

Prognosis

Mannting F, Zabrodina YV, Dass C
J Nucl Med 1999 Jun;40(6):889-94. PMID: 10452302
Riecansky I
Acta Cardiol 1995;50(3):209-13. PMID: 7676760

Clinical prediction guides

Montó F, Oliver E, Vicente D, Rueda J, Agüero J, Almenar L, Ivorra MD, Barettino D, D'Ocon P
Am J Physiol Heart Circ Physiol 2012 Aug 1;303(3):H368-76. Epub 2012 Jun 8 doi: 10.1152/ajpheart.01061.2011. PMID: 22685168
Riecansky I
Acta Cardiol 1995;50(3):209-13. PMID: 7676760

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