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Dilated cardiomyopathy 1V(CMD1V)

MedGen UID:
462308
Concept ID:
C3150958
Disease or Syndrome
Synonyms: CMD1V; PSEN2-Related Dilated Cardiomyopathy
 
Gene (location): PSEN2 (1q42.13)
 
Monarch Initiative: MONDO:0013373
OMIM®: 613697

Definition

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 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.
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.
Left bundle branch block
MedGen UID:
7286
Concept ID:
C0023211
Disease or Syndrome
A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.
Syncope
MedGen UID:
21443
Concept ID:
C0039070
Sign or Symptom
Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
First degree atrioventricular block
MedGen UID:
43215
Concept ID:
C0085614
Disease or Syndrome
Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles.
Left ventricular hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
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).
Dementia
MedGen UID:
99229
Concept ID:
C0497327
Mental or Behavioral Dysfunction
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Liu X, Li M, Chen J, Wu J, Zhang L, Hu J, Li F, Fan X, Yang H, Yan L, Liu J
J Electrocardiol 2024 Mar-Apr;83:21-25. Epub 2024 Jan 16 doi: 10.1016/j.jelectrocard.2024.01.002. PMID: 38241779
Power A, Navaratnam M, Murray JM, Peng LF, Rosenthal DN, Dykes JC, Yarlagadda VV, Maeda K, Almond CS, Chen S
ASAIO J 2022 Sep 1;68(9):1174-1181. Epub 2021 Dec 28 doi: 10.1097/MAT.0000000000001627. PMID: 34967779
Valencia JF, Vallverdu M, Rivero I, Voss A, de Luna AB, Porta A, Caminal P
Philos Trans A Math Phys Eng Sci 2015 Feb 13;373(2034) doi: 10.1098/rsta.2014.0092. PMID: 25548268Free PMC Article
Bott-Flügel L, Weig HJ, Uhlein H, Nabauer M, Laugwitz KL, Seyfarth M
Eur J Heart Fail 2008 Feb;10(2):129-32. doi: 10.1016/j.ejheart.2007.12.013. PMID: 18279768
Martins S, Soares RM, do Rosário L, Quininha J, Antunes AM
Rev Port Cardiol 2001 Mar;20(3):261-82. PMID: 11417309

Diagnosis

Liu X, Li M, Chen J, Wu J, Zhang L, Hu J, Li F, Fan X, Yang H, Yan L, Liu J
J Electrocardiol 2024 Mar-Apr;83:21-25. Epub 2024 Jan 16 doi: 10.1016/j.jelectrocard.2024.01.002. PMID: 38241779
Power A, Navaratnam M, Murray JM, Peng LF, Rosenthal DN, Dykes JC, Yarlagadda VV, Maeda K, Almond CS, Chen S
ASAIO J 2022 Sep 1;68(9):1174-1181. Epub 2021 Dec 28 doi: 10.1097/MAT.0000000000001627. PMID: 34967779
Valencia JF, Vallverdu M, Rivero I, Voss A, de Luna AB, Porta A, Caminal P
Philos Trans A Math Phys Eng Sci 2015 Feb 13;373(2034) doi: 10.1098/rsta.2014.0092. PMID: 25548268Free PMC Article
Das MK, Maskoun W, Shen C, Michael MA, Suradi H, Desai M, Subbarao R, Bhakta D
Heart Rhythm 2010 Jan;7(1):74-80. Epub 2009 Oct 2 doi: 10.1016/j.hrthm.2009.09.065. PMID: 20129288
Permanetter B, Rössy W, Klein G, Weingartner F, Seidl KF, Blömer H
Eur Heart J 1992 Nov;13(11):1528-33. doi: 10.1093/oxfordjournals.eurheartj.a060096. PMID: 1464342

Therapy

Power A, Navaratnam M, Murray JM, Peng LF, Rosenthal DN, Dykes JC, Yarlagadda VV, Maeda K, Almond CS, Chen S
ASAIO J 2022 Sep 1;68(9):1174-1181. Epub 2021 Dec 28 doi: 10.1097/MAT.0000000000001627. PMID: 34967779
Permanetter B, Rössy W, Klein G, Weingartner F, Seidl KF, Blömer H
Eur Heart J 1992 Nov;13(11):1528-33. doi: 10.1093/oxfordjournals.eurheartj.a060096. PMID: 1464342

Prognosis

Liu X, Li M, Chen J, Wu J, Zhang L, Hu J, Li F, Fan X, Yang H, Yan L, Liu J
J Electrocardiol 2024 Mar-Apr;83:21-25. Epub 2024 Jan 16 doi: 10.1016/j.jelectrocard.2024.01.002. PMID: 38241779
Das MK, Maskoun W, Shen C, Michael MA, Suradi H, Desai M, Subbarao R, Bhakta D
Heart Rhythm 2010 Jan;7(1):74-80. Epub 2009 Oct 2 doi: 10.1016/j.hrthm.2009.09.065. PMID: 20129288
Bode-Schnurbus L, Böcker D, Block M, Gradaus R, Heinecke A, Breithardt G, Borggrefe M
Heart 2003 Oct;89(10):1157-62. doi: 10.1136/heart.89.10.1157. PMID: 12975406Free PMC Article
Martins S, Soares RM, do Rosário L, Quininha J, Antunes AM
Rev Port Cardiol 2001 Mar;20(3):261-82. PMID: 11417309

Clinical prediction guides

Liu X, Li M, Chen J, Wu J, Zhang L, Hu J, Li F, Fan X, Yang H, Yan L, Liu J
J Electrocardiol 2024 Mar-Apr;83:21-25. Epub 2024 Jan 16 doi: 10.1016/j.jelectrocard.2024.01.002. PMID: 38241779
Das MK, Maskoun W, Shen C, Michael MA, Suradi H, Desai M, Subbarao R, Bhakta D
Heart Rhythm 2010 Jan;7(1):74-80. Epub 2009 Oct 2 doi: 10.1016/j.hrthm.2009.09.065. PMID: 20129288
Bott-Flügel L, Weig HJ, Uhlein H, Nabauer M, Laugwitz KL, Seyfarth M
Eur J Heart Fail 2008 Feb;10(2):129-32. doi: 10.1016/j.ejheart.2007.12.013. PMID: 18279768
Bode-Schnurbus L, Böcker D, Block M, Gradaus R, Heinecke A, Breithardt G, Borggrefe M
Heart 2003 Oct;89(10):1157-62. doi: 10.1136/heart.89.10.1157. PMID: 12975406Free PMC Article

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