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Left ventricular diastolic dysfunction

MedGen UID:
696562
Concept ID:
C1273070
Disease or Syndrome
Synonyms: Diastolic Dysfunction, LV; Dysfunction, LV Diastolic; Left Ventricular Diastolic Dysfunction; LV Diastolic Dysfunction; LV Diastolic Dysfunctions
SNOMED CT: Left ventricular diastolic dysfunction (395704004)
 
HPO: HP:0025168

Definition

Abnormal function of the left ventricule during left ventricular relaxation and filling. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Left ventricular diastolic dysfunction

Conditions with this feature

Left ventricular noncompaction 8
MedGen UID:
815618
Concept ID:
C3809288
Disease or Syndrome
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.\n\nLeft 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.
Cardiomyopathy, familial hypertrophic 27
MedGen UID:
1648325
Concept ID:
C4748014
Disease or Syndrome
CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600). An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (188840), and MYL3 (160790) genes has also been reported in 1 family.
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).
Muscular dystrophy, limb-girdle, autosomal recessive 28
MedGen UID:
1841154
Concept ID:
C5830518
Disease or Syndrome
Autosomal recessive limb-girdle muscular dystrophy-28 (LGMDR28) is characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs. The age at onset is highly variable, usually in the first decade, although onset in the fourth decade has also been reported. The disorder can be rapidly progressive or show a slower course. Most patients have limited ambulation or become wheelchair-bound within a few decades, and respiratory insufficiency commonly occurs. Laboratory studies show increased serum creatine kinase and elevated fasting blood glucose levels, although cholesterol is normal. EMG shows a myopathic pattern; muscle biopsy is generally unremarkable, but can show nonspecific myopathic or dystrophic features (Yogev et al., 2023; Morales-Rosado et al., 2023). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).

Professional guidelines

PubMed

Lido P, Romanello D, Tesauro M, Bei A, Perrone MA, Palazzetti D, Noce A, Di Lullo L, Calò L, Cice G
Eur Rev Med Pharmacol Sci 2022 Mar;26(5):1524-1534. doi: 10.26355/eurrev_202203_28217. PMID: 35302215
Shah SJ, Kitzman DW, Borlaug BA, van Heerebeek L, Zile MR, Kass DA, Paulus WJ
Circulation 2016 Jul 5;134(1):73-90. doi: 10.1161/CIRCULATIONAHA.116.021884. PMID: 27358439Free PMC Article
Nicoara A, Swaminathan M
Curr Opin Anaesthesiol 2015 Feb;28(1):60-6. doi: 10.1097/ACO.0000000000000141. PMID: 25486492

Recent clinical studies

Etiology

Liu TX, Tanenbaum MT, Seo CH, Park D, Lystash JC, Joseph M, Arnold WS
Thorac Cardiovasc Surg 2023 Aug;71(5):398-406. Epub 2021 Apr 16 doi: 10.1055/s-0041-1727138. PMID: 33862634
Ross L, Patel S, Stevens W, Burns A, Prior D, La Gerche A, Nikpour M
Clin Exp Rheumatol 2022 Oct;40(10):1986-1992. Epub 2022 Oct 17 doi: 10.55563/clinexprheumatol/irc0ih. PMID: 36259603
Møller S, Wiese S, Halgreen H, Hove JD
Heart Fail Rev 2016 Sep;21(5):599-610. doi: 10.1007/s10741-016-9552-9. PMID: 27075496
Ruiz-del-Árbol L, Serradilla R
World J Gastroenterol 2015 Nov 7;21(41):11502-21. doi: 10.3748/wjg.v21.i41.11502. PMID: 26556983Free PMC Article
Borlaug BA
Nat Rev Cardiol 2014 Sep;11(9):507-15. Epub 2014 Jun 24 doi: 10.1038/nrcardio.2014.83. PMID: 24958077

Diagnosis

Ross L, Patel S, Stevens W, Burns A, Prior D, La Gerche A, Nikpour M
Clin Exp Rheumatol 2022 Oct;40(10):1986-1992. Epub 2022 Oct 17 doi: 10.55563/clinexprheumatol/irc0ih. PMID: 36259603
Beladan CC, Botezatu S, Popescu BA
Echocardiography 2020 Nov;37(11):1957-1966. Epub 2020 Sep 1 doi: 10.1111/echo.14838. PMID: 32875654
Silbiger JJ
J Am Soc Echocardiogr 2019 Feb;32(2):216-232.e2. doi: 10.1016/j.echo.2018.11.011. PMID: 30717860
Ruiz-del-Árbol L, Serradilla R
World J Gastroenterol 2015 Nov 7;21(41):11502-21. doi: 10.3748/wjg.v21.i41.11502. PMID: 26556983Free PMC Article
Ogawa T, Koeda M, Nitta K
Ther Apher Dial 2015 Oct;19(5):427-35. Epub 2015 Apr 27 doi: 10.1111/1744-9987.12301. PMID: 25916171

Therapy

Ito S, Takahama H, Asakura M, Abe Y, Ajioka M, Anzai T, Arikawa T, Hayashi T, Higashino Y, Hiramitsu S, Iwahashi N, Izumi C, Kimura K, Kinugawa K, Kioka H, Lim YJ, Matsuoka K, Matsuoka S, Motoki H, Nakamura S, Nakayama T, Nomura A, Sasaoka T, Takiuchi S, Toyoda S, Ueda T, Watanabe T, Yamada A, Yamamoto M, Sozu T, Kitakaze M
Sci Rep 2023 Aug 2;13(1):12517. doi: 10.1038/s41598-023-39779-y. PMID: 37532820Free PMC Article
Liu TX, Tanenbaum MT, Seo CH, Park D, Lystash JC, Joseph M, Arnold WS
Thorac Cardiovasc Surg 2023 Aug;71(5):398-406. Epub 2021 Apr 16 doi: 10.1055/s-0041-1727138. PMID: 33862634
Ogawa T, Nitta K
Contrib Nephrol 2018;195:81-91. Epub 2018 May 7 doi: 10.1159/000486938. PMID: 29734153
Baughman RP, Engel PJ, Nathan S
Clin Chest Med 2015 Dec;36(4):703-14. Epub 2015 Oct 9 doi: 10.1016/j.ccm.2015.08.011. PMID: 26593143
Kane GC, Karon BL, Mahoney DW, Redfield MM, Roger VL, Burnett JC Jr, Jacobsen SJ, Rodeheffer RJ
JAMA 2011 Aug 24;306(8):856-63. doi: 10.1001/jama.2011.1201. PMID: 21862747Free PMC Article

Prognosis

Ross L, Patel S, Stevens W, Burns A, Prior D, La Gerche A, Nikpour M
Clin Exp Rheumatol 2022 Oct;40(10):1986-1992. Epub 2022 Oct 17 doi: 10.55563/clinexprheumatol/irc0ih. PMID: 36259603
Zhou D, Yan M, Cheng Q, Feng X, Tang S, Feng Y
BMC Cardiovasc Disord 2022 Jun 13;22(1):265. doi: 10.1186/s12872-022-02709-3. PMID: 35698035Free PMC Article
Marian AJ, Braunwald E
Circ Res 2017 Sep 15;121(7):749-770. doi: 10.1161/CIRCRESAHA.117.311059. PMID: 28912181Free PMC Article
Møller S, Wiese S, Halgreen H, Hove JD
Heart Fail Rev 2016 Sep;21(5):599-610. doi: 10.1007/s10741-016-9552-9. PMID: 27075496
Ruiz-del-Árbol L, Serradilla R
World J Gastroenterol 2015 Nov 7;21(41):11502-21. doi: 10.3748/wjg.v21.i41.11502. PMID: 26556983Free PMC Article

Clinical prediction guides

Ross L, Patel S, Stevens W, Burns A, Prior D, La Gerche A, Nikpour M
Clin Exp Rheumatol 2022 Oct;40(10):1986-1992. Epub 2022 Oct 17 doi: 10.55563/clinexprheumatol/irc0ih. PMID: 36259603
Beladan CC, Botezatu S, Popescu BA
Echocardiography 2020 Nov;37(11):1957-1966. Epub 2020 Sep 1 doi: 10.1111/echo.14838. PMID: 32875654
Ogawa T, Nitta K
Contrib Nephrol 2018;195:81-91. Epub 2018 May 7 doi: 10.1159/000486938. PMID: 29734153
Marian AJ, Braunwald E
Circ Res 2017 Sep 15;121(7):749-770. doi: 10.1161/CIRCRESAHA.117.311059. PMID: 28912181Free PMC Article
Møller S, Wiese S, Halgreen H, Hove JD
Heart Fail Rev 2016 Sep;21(5):599-610. doi: 10.1007/s10741-016-9552-9. PMID: 27075496

Recent systematic reviews

Hoek AG, Dal Canto E, Wenker E, Bindraban N, Handoko ML, Elders PJM, Beulens JWJ
Diabetologia 2024 Apr;67(4):574-601. Epub 2024 Feb 9 doi: 10.1007/s00125-023-06068-2. PMID: 38334818Free PMC Article
Durukan E, Jensen CFS, Skaarup KG, Østergren PB, Sønksen J, Biering-Sørensen T, Fode M
Eur Urol Focus 2023 Nov;9(6):903-912. Epub 2023 Jun 22 doi: 10.1016/j.euf.2023.06.001. PMID: 37355365
Wang S, Zhang X, Zhang Q, Zhang B, Zhao L
BMJ Open Diabetes Res Care 2023 Feb;11(1) doi: 10.1136/bmjdrc-2022-003198. PMID: 36807034Free PMC Article
Sanfilippo F, La Rosa V, Grasso C, Santonocito C, Minardi C, Oliveri F, Iacobelli R, Astuto M
Pediatr Crit Care Med 2021 Mar 1;22(3):251-261. doi: 10.1097/PCC.0000000000002622. PMID: 33264235
de Meirelles Almeida CA, Nedel WL, Morais VD, Boniatti MM, de Almeida-Filho OC
J Crit Care 2016 Aug;34:135-41. Epub 2016 Mar 16 doi: 10.1016/j.jcrc.2016.03.007. PMID: 27067288

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