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Dilated cardiomyopathy 1S(CMD1S)

MedGen UID:
371831
Concept ID:
C1834481
Disease or Syndrome
Synonyms: CMD1S; MYH7-Related Dilated Cardiomyopathy
 
Gene (location): MYH7 (14q11.2)
 
Monarch Initiative: MONDO:0013262
OMIM®: 613426

Definition

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene. [from MONDO]

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).
Coarctation of aorta
MedGen UID:
1617
Concept ID:
C0003492
Congenital Abnormality
Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
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.
Tricuspid regurgitation
MedGen UID:
11911
Concept ID:
C0040961
Disease or Syndrome
Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.
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).
Ventricular arrhythmia
MedGen UID:
39082
Concept ID:
C0085612
Disease or Syndrome
A disorder characterized by an electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles.
Bicuspid aortic valve
MedGen UID:
57436
Concept ID:
C0149630
Congenital Abnormality
Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcification of the valve and the aorta has been observed, and some patients exhibit coarctation of the aorta (Tan et al., 2012; Luyckx et al., 2019; Park et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 (109730).
Pulmonary artery hypoplasia
MedGen UID:
75585
Concept ID:
C0265910
Congenital Abnormality
Underdevelopment of the pulmonary artery.
Perimembranous ventricular septal defect
MedGen UID:
87490
Concept ID:
C0344925
Congenital Abnormality
A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.
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.
Pulmonary arterial hypertension
MedGen UID:
425404
Concept ID:
C2973725
Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
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.
Interstitial cardiac fibrosis
MedGen UID:
1620902
Concept ID:
C4531194
Finding
A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.
Pulmonary thromboembolism
MedGen UID:
141829
Concept ID:
C0524702
Disease or Syndrome
Pulmonary embolism is caused by emboli, which have originated from venous thrombi, traveling to and occluding the arteries of the lung.
Single umbilical artery
MedGen UID:
278026
Concept ID:
C1384670
Congenital Abnormality
Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Besli F, Gullulu S, Sag S, Kecebas M, Acikgoz E, Sarandol E, Aydinlar A
Acta Cardiol 2016 Apr;71(2):185-90. doi: 10.2143/AC.71.2.3141848. PMID: 27090040
Palmer BM, Schmitt JP, Seidman CE, Seidman JG, Wang Y, Bell SP, Lewinter MM, Maughan DW
J Mol Cell Cardiol 2013 Apr;57:23-31. Epub 2013 Jan 8 doi: 10.1016/j.yjmcc.2012.12.022. PMID: 23313350Free PMC Article
Dörffel WV, Wallukat G, Dörffel Y, Felix SB, Baumann G
Int J Cardiol 2004 Dec;97(3):529-34. doi: 10.1016/j.ijcard.2004.03.001. PMID: 15561344
Le Grand BL, Hatem S, Deroubaix E, Couétil JP, Coraboeuf E
Cardiovasc Res 1994 Apr;28(4):548-56. doi: 10.1093/cvr/28.4.548. PMID: 8181045
Tobin R, Slutsky RA, Higgins CB
Clin Cardiol 1984 Feb;7(2):99-101. doi: 10.1002/clc.4960070205. PMID: 6705298

Diagnosis

Piperata A, Bottio T, Toscano G, Avesani M, Vianello A, Gerosa G
ESC Heart Fail 2020 Oct;7(5):3198-3202. Epub 2020 Aug 1 doi: 10.1002/ehf2.12905. PMID: 32738034Free PMC Article
Besli F, Gullulu S, Sag S, Kecebas M, Acikgoz E, Sarandol E, Aydinlar A
Acta Cardiol 2016 Apr;71(2):185-90. doi: 10.2143/AC.71.2.3141848. PMID: 27090040
Moody WE, Taylor RJ, Edwards NC, Chue CD, Umar F, Taylor TJ, Ferro CJ, Young AA, Townend JN, Leyva F, Steeds RP
J Magn Reson Imaging 2015 Apr;41(4):1000-12. Epub 2014 Mar 28 doi: 10.1002/jmri.24623. PMID: 24677420
Duncan AM, Francis DP, Henein MY, Gibson DG
Int J Cardiol 2004 Jun;95(2-3):211-7. doi: 10.1016/j.ijcard.2003.07.007. PMID: 15193822
Lackner K, Landwehr P, Thurn P
Int J Card Imaging 1988;3(1):39-45. doi: 10.1007/BF01801643. PMID: 3351341

Therapy

Rose AG, Park SJ
Cardiovasc Pathol 2005 Jan-Feb;14(1):19-23. doi: 10.1016/j.carpath.2004.10.002. PMID: 15710287
Taniguchi Y, Ueshima K, Chiba I, Segawa I, Kobayashi N, Saito M, Hiramori K
Chest 2003 Sep;124(3):954-61. doi: 10.1378/chest.124.3.954. PMID: 12970023

Prognosis

Piperata A, Bottio T, Toscano G, Avesani M, Vianello A, Gerosa G
ESC Heart Fail 2020 Oct;7(5):3198-3202. Epub 2020 Aug 1 doi: 10.1002/ehf2.12905. PMID: 32738034Free PMC Article
Besli F, Gullulu S, Sag S, Kecebas M, Acikgoz E, Sarandol E, Aydinlar A
Acta Cardiol 2016 Apr;71(2):185-90. doi: 10.2143/AC.71.2.3141848. PMID: 27090040
Rose AG, Park SJ
Cardiovasc Pathol 2005 Jan-Feb;14(1):19-23. doi: 10.1016/j.carpath.2004.10.002. PMID: 15710287
Dörffel WV, Wallukat G, Dörffel Y, Felix SB, Baumann G
Int J Cardiol 2004 Dec;97(3):529-34. doi: 10.1016/j.ijcard.2004.03.001. PMID: 15561344
Duncan AM, Francis DP, Henein MY, Gibson DG
Int J Cardiol 2004 Jun;95(2-3):211-7. doi: 10.1016/j.ijcard.2003.07.007. PMID: 15193822

Clinical prediction guides

Piperata A, Bottio T, Toscano G, Avesani M, Vianello A, Gerosa G
ESC Heart Fail 2020 Oct;7(5):3198-3202. Epub 2020 Aug 1 doi: 10.1002/ehf2.12905. PMID: 32738034Free PMC Article
Rose AG, Park SJ
Cardiovasc Pathol 2005 Jan-Feb;14(1):19-23. doi: 10.1016/j.carpath.2004.10.002. PMID: 15710287
Dörffel WV, Wallukat G, Dörffel Y, Felix SB, Baumann G
Int J Cardiol 2004 Dec;97(3):529-34. doi: 10.1016/j.ijcard.2004.03.001. PMID: 15561344
Duncan AM, Francis DP, Henein MY, Gibson DG
Int J Cardiol 2004 Jun;95(2-3):211-7. doi: 10.1016/j.ijcard.2003.07.007. PMID: 15193822
Le Grand BL, Hatem S, Deroubaix E, Couétil JP, Coraboeuf E
Cardiovasc Res 1994 Apr;28(4):548-56. doi: 10.1093/cvr/28.4.548. PMID: 8181045

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