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Increased left ventricular end-diastolic volume

MedGen UID:
1660169
Concept ID:
C4748648
Finding
HPO: HP:0033755

Definition

Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased left ventricular end-diastolic volume

Conditions with this feature

3-Methylglutaconic aciduria type 2
MedGen UID:
107893
Concept ID:
C0574083
Disease or Syndrome
Barth syndrome is characterized in affected males by cardiomyopathy, neutropenia, skeletal myopathy, prepubertal growth delay, and distinctive facial gestalt (most evident in infancy); not all features may be present in a given affected male. Cardiomyopathy, which is almost always present before age five years, is typically dilated cardiomyopathy with or without endocardial fibroelastosis or left ventricular noncompaction; hypertrophic cardiomyopathy can also occur. Heart failure is a significant cause of morbidity and mortality; risk of arrhythmia and sudden death is increased. Neutropenia is most often associated with mouth ulcers, pneumonia, and sepsis. The nonprogressive myopathy predominantly affects the proximal muscles, and results in early motor delays. Prepubertal growth delay is followed by a postpubertal growth spurt with remarkable "catch-up" growth. Heterozygous females who have a normal karyotype are asymptomatic and have normal biochemical studies.
Dilated cardiomyopathy 1D
MedGen UID:
316943
Concept ID:
C1832243
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.
Dilated cardiomyopathy 1C
MedGen UID:
316944
Concept ID:
C1832244
Disease or Syndrome
An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the LDB3 gene, encoding LIM domain-binding protein 3.
Dilated cardiomyopathy 1M
MedGen UID:
334498
Concept ID:
C1843808
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.
Dilated cardiomyopathy 1L
MedGen UID:
335735
Concept ID:
C1847667
Disease or Syndrome
Dilated cardiomyopathy, a disorder characterized by cardiac dilation and reduced systolic function, represents an outcome of a heterogeneous group of inherited and acquired disorders. For background and phenotypic information on dilated cardiomyopathy, see CMD1A (115200).
Dilated cardiomyopathy 1X
MedGen UID:
370583
Concept ID:
C1969024
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene.
Dilated cardiomyopathy 1W
MedGen UID:
370063
Concept ID:
C1969639
Disease or Syndrome
An genetic condition that is a subtype of dilated cardiomyopathy caused by mutation(s) in the VCL gene, encoding vinculin.
Dilated cardiomyopathy 2A
MedGen UID:
437214
Concept ID:
C2678474
Disease or Syndrome
A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.
Dilated cardiomyopathy 1Y
MedGen UID:
437215
Concept ID:
C2678476
Disease or Syndrome
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).
Dilated cardiomyopathy 1FF
MedGen UID:
412876
Concept ID:
C2750091
Disease or Syndrome
A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42.
Dilated cardiomyopathy 1EE
MedGen UID:
412965
Concept ID:
C2750466
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene.
Dilated cardiomyopathy 1CC
MedGen UID:
413929
Concept ID:
C2751084
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.
Dilated cardiomyopathy 1BB
MedGen UID:
414552
Concept ID:
C2752072
Disease or Syndrome
Dilated cardiomyopathy-1BB (CMD1BB) is a life-threatening, intractable disease characterized by ventricular dilation and thinning (Shiba et al., 2021). For a phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200).
Dilated cardiomyopathy 1R
MedGen UID:
462031
Concept ID:
C3150681
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.
Dilated cardiomyopathy 1V
MedGen UID:
462308
Concept ID:
C3150958
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene.
Dilated cardiomyopathy 1HH
MedGen UID:
462643
Concept ID:
C3151293
Disease or Syndrome
An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the BAG3 gene, encoding BAG family molecular chaperone regulator 3.
Dilated cardiomyopathy 1U
MedGen UID:
463620
Concept ID:
C3160720
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene.
Dilated cardiomyopathy 1II
MedGen UID:
767563
Concept ID:
C3554649
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene.
Dilated cardiomyopathy 3B
MedGen UID:
777148
Concept ID:
C3668940
Disease or Syndrome
The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). The mild end of the spectrum includes the phenotypes of asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria. The severe end of the spectrum includes progressive muscle diseases that are classified as Duchenne/Becker muscular dystrophy when skeletal muscle is primarily affected and as DMD-associated DCM when the heart is primarily affected. Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed motor milestones including delays in walking independently and standing up from a supine position. Proximal weakness causes a waddling gait and difficulty climbing stairs, running, jumping, and standing up from a squatting position. DMD is rapidly progressive, with affected children being wheelchair dependent by age 12 years. Cardiomyopathy occurs in almost all individuals with DMD after age 18 years. Few survive beyond the third decade, with respiratory complications and progressive cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness. With improved diagnostic techniques, it has been recognized that the mild end of the spectrum includes men with onset of symptoms after age 30 years who remain ambulatory even into their 60s. Despite the milder skeletal muscle involvement, heart failure from DCM is a common cause of morbidity and the most common cause of death in BMD. Mean age of death is in the mid-40s. DMD-associated DCM is characterized by left ventricular dilation and congestive heart failure. Females heterozygous for a DMD pathogenic variant are at increased risk for DCM.
Dilated cardiomyopathy 1KK
MedGen UID:
811544
Concept ID:
C3714995
Disease or Syndrome
Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene.
Left ventricular noncompaction 10
MedGen UID:
811617
Concept ID:
C3715165
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.
Dilated cardiomyopathy 1NN
MedGen UID:
863093
Concept ID:
C4014656
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene.
Cardiomyopathy, dilated, 2F
MedGen UID:
1802616
Concept ID:
C5676917
Disease or Syndrome
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.
Cardiac valvular dysplasia 2
MedGen UID:
1823999
Concept ID:
C5774226
Disease or Syndrome
Cardiac valvular dysplasia-2 (CVDP2) is characterized primarily by congenital stenosis and insufficiency of the semilunar valves, although mild insufficiency of the atrioventricular valves has been observed as well. Other features include subaortic stenosis and dilation of the ascending aorta and/or pulmonary artery in some patients (Wunnemann et al., 2020; Massadeh et al., 2020). For a discussion of genetic heterogeneity of CVDP, see CVDP1 (212093).

Professional guidelines

PubMed

Aronow WS
Postgrad Med 1976 Nov;60(5):100-6. doi: 10.1080/00325481.1976.11714477. PMID: 10562

Recent clinical studies

Etiology

Yoshikawa M, Arashi H, Kikuchi N, Koyanagi-Saito C, Domoto S, Niinami H, Yamaguchi J
Am J Cardiol 2024 Jan 15;211:106-111. Epub 2023 Nov 10 doi: 10.1016/j.amjcard.2023.10.090. PMID: 37949338
Juhl-Olsen P, Berg-Hansen K, Nørskov J, Enevoldsen J, Hermansen JL
Acta Anaesthesiol Scand 2023 Aug;67(7):869-876. Epub 2023 Apr 25 doi: 10.1111/aas.14256. PMID: 37186094
Yılmaz M, Korkmaz H
J Obstet Gynaecol Res 2022 Apr;48(4):946-955. Epub 2022 Mar 2 doi: 10.1111/jog.15172. PMID: 35238105
Sinn MR, Lund GK, Muellerleile K, Freiwald E, Saeed M, Avanesov M, Lenz A, Starekova J, von Kodolitsch Y, Blankenberg S, Adam G, Tahir E
Int J Cardiovasc Imaging 2021 May;37(5):1711-1720. Epub 2021 Jan 12 doi: 10.1007/s10554-020-02136-5. PMID: 33433745Free PMC Article
Atherton JJ, Moore TD, Lele SS, Thomson HL, Galbraith AJ, Belenkie I, Tyberg JV, Frenneaux MP
Lancet 1997 Jun 14;349(9067):1720-4. doi: 10.1016/S0140-6736(96)05109-4. PMID: 9193381

Diagnosis

MacNamara JP, Dias KA, Hearon CM Jr, Ivey E, Delgado VA, Saland S, Samels M, Hieda M, Turer AT, Link MS, Sarma S, Levine BD
J Am Heart Assoc 2023 Oct 17;12(20):e031399. Epub 2023 Oct 13 doi: 10.1161/JAHA.123.031399. PMID: 37830338Free PMC Article
Farrar E, Bilchick KC, Gadi SR, Hosadurg N, Kramer CM, Patel AR, Mcclean K, Thomas M, Ayers MP
Am J Cardiol 2023 Dec 1;208:83-91. Epub 2023 Oct 10 doi: 10.1016/j.amjcard.2023.09.040. PMID: 37820551Free PMC Article
Yılmaz M, Korkmaz H
J Obstet Gynaecol Res 2022 Apr;48(4):946-955. Epub 2022 Mar 2 doi: 10.1111/jog.15172. PMID: 35238105
Sinn MR, Lund GK, Muellerleile K, Freiwald E, Saeed M, Avanesov M, Lenz A, Starekova J, von Kodolitsch Y, Blankenberg S, Adam G, Tahir E
Int J Cardiovasc Imaging 2021 May;37(5):1711-1720. Epub 2021 Jan 12 doi: 10.1007/s10554-020-02136-5. PMID: 33433745Free PMC Article
Eilen SD, Crawford MH, O'Rourke RA
Ann Intern Med 1983 Nov;99(5):628-30. doi: 10.7326/0003-4819-99-5-628. PMID: 6227265

Therapy

MacNamara JP, Dias KA, Hearon CM Jr, Ivey E, Delgado VA, Saland S, Samels M, Hieda M, Turer AT, Link MS, Sarma S, Levine BD
J Am Heart Assoc 2023 Oct 17;12(20):e031399. Epub 2023 Oct 13 doi: 10.1161/JAHA.123.031399. PMID: 37830338Free PMC Article
Juhl-Olsen P, Berg-Hansen K, Nørskov J, Enevoldsen J, Hermansen JL
Acta Anaesthesiol Scand 2023 Aug;67(7):869-876. Epub 2023 Apr 25 doi: 10.1111/aas.14256. PMID: 37186094
Dybro AM, Rasmussen TB, Nielsen RR, Ladefoged BT, Andersen MJ, Jensen MK, Poulsen SH
J Am Coll Cardiol 2022 Apr 26;79(16):1565-1575. doi: 10.1016/j.jacc.2022.02.024. PMID: 35450573
Sinn MR, Lund GK, Muellerleile K, Freiwald E, Saeed M, Avanesov M, Lenz A, Starekova J, von Kodolitsch Y, Blankenberg S, Adam G, Tahir E
Int J Cardiovasc Imaging 2021 May;37(5):1711-1720. Epub 2021 Jan 12 doi: 10.1007/s10554-020-02136-5. PMID: 33433745Free PMC Article
Herth F, Hohlfeld JM, Haas J, de la Hoz A, Jin X, Kreitner KF, Vogelmeier C, Vogel-Claussen J, Watz H
BMJ Open Respir Res 2020 Dec;7(1) doi: 10.1136/bmjresp-2020-000741. PMID: 33268341Free PMC Article

Prognosis

Yoshikawa M, Arashi H, Kikuchi N, Koyanagi-Saito C, Domoto S, Niinami H, Yamaguchi J
Am J Cardiol 2024 Jan 15;211:106-111. Epub 2023 Nov 10 doi: 10.1016/j.amjcard.2023.10.090. PMID: 37949338
Farrar E, Bilchick KC, Gadi SR, Hosadurg N, Kramer CM, Patel AR, Mcclean K, Thomas M, Ayers MP
Am J Cardiol 2023 Dec 1;208:83-91. Epub 2023 Oct 10 doi: 10.1016/j.amjcard.2023.09.040. PMID: 37820551Free PMC Article
Yılmaz M, Korkmaz H
J Obstet Gynaecol Res 2022 Apr;48(4):946-955. Epub 2022 Mar 2 doi: 10.1111/jog.15172. PMID: 35238105
Sinn MR, Lund GK, Muellerleile K, Freiwald E, Saeed M, Avanesov M, Lenz A, Starekova J, von Kodolitsch Y, Blankenberg S, Adam G, Tahir E
Int J Cardiovasc Imaging 2021 May;37(5):1711-1720. Epub 2021 Jan 12 doi: 10.1007/s10554-020-02136-5. PMID: 33433745Free PMC Article
Herth F, Hohlfeld JM, Haas J, de la Hoz A, Jin X, Kreitner KF, Vogelmeier C, Vogel-Claussen J, Watz H
BMJ Open Respir Res 2020 Dec;7(1) doi: 10.1136/bmjresp-2020-000741. PMID: 33268341Free PMC Article

Clinical prediction guides

Yoshikawa M, Arashi H, Kikuchi N, Koyanagi-Saito C, Domoto S, Niinami H, Yamaguchi J
Am J Cardiol 2024 Jan 15;211:106-111. Epub 2023 Nov 10 doi: 10.1016/j.amjcard.2023.10.090. PMID: 37949338
Farrar E, Bilchick KC, Gadi SR, Hosadurg N, Kramer CM, Patel AR, Mcclean K, Thomas M, Ayers MP
Am J Cardiol 2023 Dec 1;208:83-91. Epub 2023 Oct 10 doi: 10.1016/j.amjcard.2023.09.040. PMID: 37820551Free PMC Article
Dybro AM, Rasmussen TB, Nielsen RR, Ladefoged BT, Andersen MJ, Jensen MK, Poulsen SH
J Am Coll Cardiol 2022 Apr 26;79(16):1565-1575. doi: 10.1016/j.jacc.2022.02.024. PMID: 35450573
Yılmaz M, Korkmaz H
J Obstet Gynaecol Res 2022 Apr;48(4):946-955. Epub 2022 Mar 2 doi: 10.1111/jog.15172. PMID: 35238105
Herth F, Hohlfeld JM, Haas J, de la Hoz A, Jin X, Kreitner KF, Vogelmeier C, Vogel-Claussen J, Watz H
BMJ Open Respir Res 2020 Dec;7(1) doi: 10.1136/bmjresp-2020-000741. PMID: 33268341Free PMC Article

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