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Cardiomyopathy, dilated, 2F(CMD2F)

MedGen UID:
1802616
Concept ID:
C5676917
Disease or Syndrome
Synonym: CMD2F
 
Gene (location): BAG5 (14q32.33)
 
Monarch Initiative: MONDO:0030680
OMIM®: 619747

Definition

Dilated cardiomyopathy-2F (CMD2F) is an autosomal recessive early-onset cardiomyopathy associated with refractory ventricular arrhythmias and severe heart failure requiring placement of a left ventricular assist device (Hakui et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200. [from OMIM]

Clinical features

From HPO
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.
Ventricular fibrillation
MedGen UID:
21844
Concept ID:
C0042510
Disease or Syndrome
Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.
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).
Severely reduced left ventricular ejection fraction
MedGen UID:
868396
Concept ID:
C4022790
Finding
A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent.
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.

Professional guidelines

PubMed

Manolis AJ, Olympios C, Sifaki M, Smirnioudis N, Handanis S, Argirakis S, Katsaros C, Gavras I, Gavras H
Clin Exp Hypertens 1998 Oct;20(7):717-31. doi: 10.3109/10641969809052115. PMID: 9764717

Recent clinical studies

Etiology

Serban T, du Fay de Lavallaz J, Mannhart D, Pfister O, van der Stouwe JG, Kaufmann BA, Knecht S, Kühne M, Sticherling C, Badertscher P
ESC Heart Fail 2023 Aug;10(4):2386-2394. Epub 2023 May 22 doi: 10.1002/ehf2.14365. PMID: 37218391Free PMC Article
Groh WJ
Heart Rhythm 2012 Nov;9(11):1890-5. Epub 2012 Jun 30 doi: 10.1016/j.hrthm.2012.06.038. PMID: 22760083
Manolis AJ, Olympios C, Sifaki M, Smirnioudis N, Handanis S, Argirakis S, Katsaros C, Gavras I, Gavras H
Clin Exp Hypertens 1998 Oct;20(7):717-31. doi: 10.3109/10641969809052115. PMID: 9764717

Diagnosis

Serban T, du Fay de Lavallaz J, Mannhart D, Pfister O, van der Stouwe JG, Kaufmann BA, Knecht S, Kühne M, Sticherling C, Badertscher P
ESC Heart Fail 2023 Aug;10(4):2386-2394. Epub 2023 May 22 doi: 10.1002/ehf2.14365. PMID: 37218391Free PMC Article

Therapy

Manolis AJ, Olympios C, Sifaki M, Smirnioudis N, Handanis S, Argirakis S, Katsaros C, Gavras I, Gavras H
Clin Exp Hypertens 1998 Oct;20(7):717-31. doi: 10.3109/10641969809052115. PMID: 9764717

Prognosis

Serban T, du Fay de Lavallaz J, Mannhart D, Pfister O, van der Stouwe JG, Kaufmann BA, Knecht S, Kühne M, Sticherling C, Badertscher P
ESC Heart Fail 2023 Aug;10(4):2386-2394. Epub 2023 May 22 doi: 10.1002/ehf2.14365. PMID: 37218391Free PMC Article

Clinical prediction guides

Serban T, du Fay de Lavallaz J, Mannhart D, Pfister O, van der Stouwe JG, Kaufmann BA, Knecht S, Kühne M, Sticherling C, Badertscher P
ESC Heart Fail 2023 Aug;10(4):2386-2394. Epub 2023 May 22 doi: 10.1002/ehf2.14365. PMID: 37218391Free PMC Article

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