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Left atrial enlargement

MedGen UID:
536845
Concept ID:
C0238705
Finding
Synonyms: Enlarged heart left atrium; Left atrial hypertrophy
SNOMED CT: Left atrial hypertrophy (446813000); Left atrial enlargement (67741000119109)
 
HPO: HP:0031295

Definition

Increase in size of the left atrium. [from HPO]

Conditions with this feature

Hypertrophic cardiomyopathy 8
MedGen UID:
324806
Concept ID:
C1837471
Disease or Syndrome
Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene.
Uruguay Faciocardiomusculoskeletal syndrome
MedGen UID:
335320
Concept ID:
C1846010
Disease or Syndrome
Uruguay faciocardiomusculoskeletal syndrome (FCMSU) is an X-linked disorder in which affected males have a distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy leading to premature death. Additional features include large, broad, and deformed hands and feet, congenital hip dislocation, and scoliosis (summary by Xue et al., 2016).
Cardiomyopathy, familial restrictive, 1
MedGen UID:
396236
Concept ID:
C1861861
Disease or Syndrome
Restrictive cardiomyopathy (RCM) is a myocardial disease characterized by impaired ventricular filling and reduced diastolic volume in the presence of normal systolic function and normal or near-normal myocardial thickness. The disease is characterized by symptoms of progressive left- and right-sided heart failure. The overall prognosis is poor, especially when onset is in childhood, and patients often require cardiac transplantation (Mogensen et al., 2003). Genetic Heterogeneity of Familial Restrictive Cardiomyopathy Other forms of familial restrictive cardiomyopathy include RCM2 (609578), mapped to chromosome 10q23; RCM3 (612422), caused by mutation in the TNNT2 gene (191045) on chromosome 1q32; RCM4 (see 615248), caused by mutation in the MYPN gene (608517) on chromosome 10q21; RCM5 (see 617047), caused by mutation in the FLNC gene (102565) on chromosome 7q32; and RCM6 (619433), caused by mutation in the KIF20A gene (605664) on chromosome 5q31.
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
MedGen UID:
409741
Concept ID:
C1969054
Disease or Syndrome
The signs and symptoms of muscle GSD 0 typically begin in early childhood. Affected individuals often experience muscle pain and weakness or episodes of fainting (syncope) following moderate physical activity, such as walking up stairs. The loss of consciousness that occurs with fainting typically lasts up to several hours. Some individuals with muscle GSD 0 have a disruption of the heart's normal rhythm (arrhythmia) known as long QT syndrome. In all affected individuals, muscle GSD 0 impairs the heart's ability to effectively pump blood and increases the risk of cardiac arrest and sudden death, particularly after physical activity. Sudden death from cardiac arrest can occur in childhood or adolescence in people with muscle GSD 0.\n\nIndividuals with liver GSD 0 usually show signs and symptoms of the disorder in infancy. People with this disorder develop low blood sugar (glucose), known as hypoglycemia, after going long periods of time without food (fasting). Signs of hypoglycemia become apparent when affected infants begin sleeping through the night and stop late-night feedings; these infants exhibit extreme tiredness (lethargy), pale skin (pallor), and nausea. During episodes of fasting, ketone levels in the blood may increase (ketosis). Ketones are molecules produced during the breakdown of fats, which occurs when stored sugars (such as glycogen) are unavailable. These short-term signs and symptoms of liver GSD 0 often improve when food is eaten and glucose levels in the body return to normal. The features of liver GSD 0 vary; they can be mild and go unnoticed for years, or they can include developmental delay and growth failure.\n\nGlycogen storage disease type 0 (also known as GSD 0) is a condition caused by the body's inability to form a complex sugar called glycogen, which is a major source of stored energy in the body. GSD 0 has two types: in muscle GSD 0, glycogen formation in the muscles is impaired, and in liver GSD 0, glycogen formation in the liver is impaired.
Atrial fibrillation, familial, 6
MedGen UID:
394252
Concept ID:
C2677294
Disease or Syndrome
Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997). For a discussion of genetic heterogeneity of atrial fibrillation, see 608583.
Nestor-Guillermo progeria syndrome
MedGen UID:
462796
Concept ID:
C3151446
Disease or Syndrome
Nestor-Guillermo progeria syndrome (NGPS) is an autosomal recessive disorder characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life. Onset is after 2 years of age, and lifespan is relatively long (summary by Cabanillas et al., 2011).
Atrial fibrillation, familial, 10
MedGen UID:
462814
Concept ID:
C3151464
Disease or Syndrome
Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997). For a discussion of genetic heterogeneity of atrial fibrillation, see 608583.
Ogden syndrome
MedGen UID:
477078
Concept ID:
C3275447
Disease or Syndrome
Ogden syndrome (OGDNS) is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. Many patients also have cardiac malformations or arrhythmias (summary by Popp et al., 2015).
Atrial fibrillation, familial, 13
MedGen UID:
815641
Concept ID:
C3809311
Disease or Syndrome
Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997). For a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 (608583).
Atrial fibrillation, familial, 15
MedGen UID:
862706
Concept ID:
C4014269
Disease or Syndrome
Atrial fibrillation (AF) is a supraventricular tachyarrhythmia characterized by uncoordinated atrial activation with consequent deterioration of atrial mechanical function. It is the most common sustained cardiac rhythm disturbance, and its prevalence increases as the population ages. An estimated 70,000 strokes each year are caused by atrial fibrillation (summary by Oberti et al., 2004). For a discussion of genetic heterogeneity of atrial fibrillation, see 608583.
Chronic atrial and intestinal dysrhythmia
MedGen UID:
863911
Concept ID:
C4015474
Disease or Syndrome
Syndrome with characteristics of sick sinus syndrome and intestinal pseudo-obstruction. The heart and digestive issues develop at the same time, usually by age 20. The syndrome is caused by mutations in the SGO1 gene. This gene provides instructions for making part of a protein complex cohesin. This protein complex helps control the placement of chromosomes during cell division. Research suggests that SGO1 gene mutations may result in a cohesin complex that is less able to hold sister chromatids together, resulting in decreased chromosomal stability during cell division. This instability is thought to cause senescence of cells in the intestinal muscle and in the sinoatrial node, resulting in problems maintaining proper rhythmic movements of the heart and intestines.
Hypertrophic cardiomyopathy 26
MedGen UID:
934716
Concept ID:
C4310749
Disease or Syndrome
Familial cardiomyopathy caused by mutation in the FLNC gene has been described as hypertrophic, restrictive, dilated, or arrhythmogenic right ventricular cardiomyopathy. Affected individuals, especially those with dilated cardiomyopathy, are at risk for arrhythmias and sudden death. Arrhythmias without cardiomyopathy, and left ventricular noncompaction, have also been reported (Ortiz-Genga et al., 2016; Verdonschot et al., 2020).
MYH7-related skeletal myopathy
MedGen UID:
1647391
Concept ID:
C4552004
Disease or Syndrome
Laing distal myopathy is characterized by early-onset weakness (usually before age 5 years) that initially involves the dorsiflexors of the ankles and great toes and then the finger extensors, especially those of the third and fourth fingers. Weakness of the neck flexors is seen in most affected individuals and mild facial weakness is often present. After distal weakness has been present for more than ten years, mild proximal weakness may be observed. Life expectancy is normal.
Cardiomyopathy, familial hypertrophic, 28
MedGen UID:
1779612
Concept ID:
C5543616
Disease or Syndrome
Familial hypertrophic cardiomyopathy-28 (CMH28) is characterized by asymmetric septal hypertrophy, atrial fibrillation and nonsustained ventricular tachycardia, and risk of sudden death. Dyspnea is the most common symptom, but more than half of affected individuals are asymptomatic. Hypertrabeculation of the left ventricle with noncompaction has been observed in some patients (Ochoa et al., 2018). For a general phenotypic description and discussion of genetic heterogeneity of familial hypertrophic cardiomyopathy, see CMH1 (192600).
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
MedGen UID:
1794147
Concept ID:
C5561937
Disease or Syndrome
Infantile-onset myofibrillar myopathy-12 with cardiomyopathy (MFM12) is a severe autosomal recessive disorder affecting both skeletal and cardiac muscle tissue that is apparent in the first weeks of life. Affected infants show tremor or clonus at birth, followed by onset of rapidly progressive generalized muscle weakness and dilated cardiomyopathy and cardiac failure, usually resulting in death by 6 months of age. Skeletal and cardiac muscle tissues show hypotrophy of type I muscle fibers and evidence of myofibrillar disorganization (summary by Weterman et al., 2013). For a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).
Cardiomyopathy, dilated, 2G
MedGen UID:
1801983
Concept ID:
C5676995
Disease or Syndrome
Dilated cardiomyopathy-2G (CMD2G) is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy. Cardiac tissue exhibits markedly shortened thin filaments, disorganized myofibrils, and reduced contractile force generation, resulting in the severe ventricular dysfunction observed. There is no evidence of skeletal muscle hypertrophy (Ahrens-Nicklas et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200.
Cardiac valvular defect, developmental
MedGen UID:
1823949
Concept ID:
C5774175
Disease or Syndrome
Cardiac valvular dysplasia-1 (CVDP1) is characterized by congenital malformations of the pulmonic, tricuspid, and mitral valves. Structural cardiac defects, including atrial and ventricular septal defects, single left ventricle, and hypoplastic right ventricle have also been observed in affected individuals (Ta-Shma et al., 2017). Genetic Heterogeneity of Cardiac Valvular Dysplasia CVDP2 (620067) is caused by mutation in the ADAMTS19 gene (607513) on chromosome 5q23.
Liver disease, severe congenital
MedGen UID:
1823968
Concept ID:
C5774195
Disease or Syndrome
Severe congenital liver disease (SCOLIV) is an autosomal recessive disorder characterized by the onset of progressive hepatic dysfunction usually in the first years of life. Affected individuals show feeding difficulties with failure to thrive and features such as jaundice, hepatomegaly, and abdominal distension. Laboratory workup is consistent with hepatic insufficiency and may also show coagulation defects, anemia, or metabolic disturbances. Cirrhosis and hypernodularity are commonly observed on liver biopsy. Many patients die of liver failure in early childhood (Moreno Traspas et al., 2022).

Professional guidelines

PubMed

Farhan S, Silbiger JJ, Halperin JL, Zhang L, Dukkipati SR, Vogel B, Kini A, Sharma S, Lerakis S
J Am Coll Cardiol 2022 Dec 13;80(24):2314-2330. doi: 10.1016/j.jacc.2022.09.046. PMID: 36480974
Batra MK, Khan A, Farooq F, Masood T, Karim M
Asian Cardiovasc Thorac Ann 2018 May;26(4):273-276. Epub 2018 Mar 27 doi: 10.1177/0218492318768131. PMID: 29587523
Echahidi N, Pibarot P, O'Hara G, Mathieu P
J Am Coll Cardiol 2008 Feb 26;51(8):793-801. doi: 10.1016/j.jacc.2007.10.043. PMID: 18294562

Recent clinical studies

Etiology

Zhang S, Zuo P
Neurologist 2023 Nov 1;28(6):386-390. doi: 10.1097/NRL.0000000000000505. PMID: 37582559Free PMC Article
Sanchis-Gomar F, Lavie CJ
Open Heart 2022 Feb;9(1) doi: 10.1136/openhrt-2022-001962. PMID: 35165169Free PMC Article
Sakellaropoulos SG, Baggish AL, Fifer MA, Lewis GD
Curr Probl Cardiol 2022 May;47(5):100911. Epub 2021 May 29 doi: 10.1016/j.cpcardiol.2021.100911. PMID: 34210521
Shah AM, Cikes M, Prasad N, Li G, Getchevski S, Claggett B, Rizkala A, Lukashevich I, O'Meara E, Ryan JJ, Shah SJ, Mullens W, Zile MR, Lam CSP, McMurray JJV, Solomon SD; PARAGON-HF Investigators
J Am Coll Cardiol 2019 Dec 10;74(23):2858-2873. doi: 10.1016/j.jacc.2019.09.063. PMID: 31806129
Omae T, Inada E
J Anesth 2018 Jun;32(3):414-424. Epub 2018 Mar 9 doi: 10.1007/s00540-018-2478-8. PMID: 29523996

Diagnosis

Farhan S, Silbiger JJ, Halperin JL, Zhang L, Dukkipati SR, Vogel B, Kini A, Sharma S, Lerakis S
J Am Coll Cardiol 2022 Dec 13;80(24):2314-2330. doi: 10.1016/j.jacc.2022.09.046. PMID: 36480974
Park J, Packard EA, Levin MG, Judy RL; Regeneron Genetics Center, Damrauer SM, Day SM, Ritchie MD, Rader DJ
Hum Mol Genet 2022 Mar 3;31(5):827-837. doi: 10.1093/hmg/ddab249. PMID: 34542152Free PMC Article
Cohen JB, Schrauben SJ, Zhao L, Basso MD, Cvijic ME, Li Z, Yarde M, Wang Z, Bhattacharya PT, Chirinos DA, Prenner S, Zamani P, Seiffert DA, Car BD, Gordon DA, Margulies K, Cappola T, Chirinos JA
JACC Heart Fail 2020 Mar;8(3):172-184. Epub 2020 Jan 8 doi: 10.1016/j.jchf.2019.09.009. PMID: 31926856Free PMC Article
Shah AM, Cikes M, Prasad N, Li G, Getchevski S, Claggett B, Rizkala A, Lukashevich I, O'Meara E, Ryan JJ, Shah SJ, Mullens W, Zile MR, Lam CSP, McMurray JJV, Solomon SD; PARAGON-HF Investigators
J Am Coll Cardiol 2019 Dec 10;74(23):2858-2873. doi: 10.1016/j.jacc.2019.09.063. PMID: 31806129
Enriquez-Sarano M, Akins CW, Vahanian A
Lancet 2009 Apr 18;373(9672):1382-94. Epub 2009 Apr 6 doi: 10.1016/S0140-6736(09)60692-9. PMID: 19356795

Therapy

Sanchis-Gomar F, Lavie CJ
Open Heart 2022 Feb;9(1) doi: 10.1136/openhrt-2022-001962. PMID: 35165169Free PMC Article
Cohen JB, Schrauben SJ, Zhao L, Basso MD, Cvijic ME, Li Z, Yarde M, Wang Z, Bhattacharya PT, Chirinos DA, Prenner S, Zamani P, Seiffert DA, Car BD, Gordon DA, Margulies K, Cappola T, Chirinos JA
JACC Heart Fail 2020 Mar;8(3):172-184. Epub 2020 Jan 8 doi: 10.1016/j.jchf.2019.09.009. PMID: 31926856Free PMC Article
Shah AM, Cikes M, Prasad N, Li G, Getchevski S, Claggett B, Rizkala A, Lukashevich I, O'Meara E, Ryan JJ, Shah SJ, Mullens W, Zile MR, Lam CSP, McMurray JJV, Solomon SD; PARAGON-HF Investigators
J Am Coll Cardiol 2019 Dec 10;74(23):2858-2873. doi: 10.1016/j.jacc.2019.09.063. PMID: 31806129
Omae T, Inada E
J Anesth 2018 Jun;32(3):414-424. Epub 2018 Mar 9 doi: 10.1007/s00540-018-2478-8. PMID: 29523996
Mujović N, Marinković M, Lenarczyk R, Tilz R, Potpara TS
Adv Ther 2017 Aug;34(8):1897-1917. Epub 2017 Jul 21 doi: 10.1007/s12325-017-0590-z. PMID: 28733782Free PMC Article

Prognosis

Remillard TC, Cronley AC, Pilch NA, Dubay DA, Willner IR, Houston BA, Jackson GR, Inampudi C, Ramu B, Kilic A, Fudim M, Wright SP, Hajj ME, Tedford RJ
Am J Cardiol 2022 Jun 1;172:121-129. Epub 2022 Mar 24 doi: 10.1016/j.amjcard.2022.02.018. PMID: 35341576
Park J, Packard EA, Levin MG, Judy RL; Regeneron Genetics Center, Damrauer SM, Day SM, Ritchie MD, Rader DJ
Hum Mol Genet 2022 Mar 3;31(5):827-837. doi: 10.1093/hmg/ddab249. PMID: 34542152Free PMC Article
Sakellaropoulos SG, Baggish AL, Fifer MA, Lewis GD
Curr Probl Cardiol 2022 May;47(5):100911. Epub 2021 May 29 doi: 10.1016/j.cpcardiol.2021.100911. PMID: 34210521
Cohen JB, Schrauben SJ, Zhao L, Basso MD, Cvijic ME, Li Z, Yarde M, Wang Z, Bhattacharya PT, Chirinos DA, Prenner S, Zamani P, Seiffert DA, Car BD, Gordon DA, Margulies K, Cappola T, Chirinos JA
JACC Heart Fail 2020 Mar;8(3):172-184. Epub 2020 Jan 8 doi: 10.1016/j.jchf.2019.09.009. PMID: 31926856Free PMC Article
Shah AM, Cikes M, Prasad N, Li G, Getchevski S, Claggett B, Rizkala A, Lukashevich I, O'Meara E, Ryan JJ, Shah SJ, Mullens W, Zile MR, Lam CSP, McMurray JJV, Solomon SD; PARAGON-HF Investigators
J Am Coll Cardiol 2019 Dec 10;74(23):2858-2873. doi: 10.1016/j.jacc.2019.09.063. PMID: 31806129

Clinical prediction guides

Patel KV, Segar MW, Klonoff DC, Khan MS, Usman MS, Lam CSP, Verma S, DeFilippis AP, Nasir K, Bakker SJL, Westenbrink BD, Dullaart RPF, Butler J, Vaduganathan M, Pandey A
Circulation 2024 Jan 23;149(4):293-304. Epub 2023 Nov 11 doi: 10.1161/CIRCULATIONAHA.123.067530. PMID: 37950893
Remillard TC, Cronley AC, Pilch NA, Dubay DA, Willner IR, Houston BA, Jackson GR, Inampudi C, Ramu B, Kilic A, Fudim M, Wright SP, Hajj ME, Tedford RJ
Am J Cardiol 2022 Jun 1;172:121-129. Epub 2022 Mar 24 doi: 10.1016/j.amjcard.2022.02.018. PMID: 35341576
Park J, Packard EA, Levin MG, Judy RL; Regeneron Genetics Center, Damrauer SM, Day SM, Ritchie MD, Rader DJ
Hum Mol Genet 2022 Mar 3;31(5):827-837. doi: 10.1093/hmg/ddab249. PMID: 34542152Free PMC Article
Herrera C, Bruña V, Comella A, de la Rosa A, Díaz-González L, Ruiz-Ortiz M, Lacalzada-Almeida J, Lucía A, Boraita A, Bayés-de-Luna A, Martínez-Sellés M
Rev Esp Cardiol (Engl Ed) 2022 May;75(5):421-428. Epub 2021 Aug 7 doi: 10.1016/j.rec.2021.05.020. PMID: 34373222
Shah AM, Cikes M, Prasad N, Li G, Getchevski S, Claggett B, Rizkala A, Lukashevich I, O'Meara E, Ryan JJ, Shah SJ, Mullens W, Zile MR, Lam CSP, McMurray JJV, Solomon SD; PARAGON-HF Investigators
J Am Coll Cardiol 2019 Dec 10;74(23):2858-2873. doi: 10.1016/j.jacc.2019.09.063. PMID: 31806129

Recent systematic reviews

Stalikas N, Doundoulakis I, Karagiannidis E, Kartas A, Gavriilaki M, Sofidis G, Panteris E, Papazoglou AS, Haidich AB, Sianos G, Giannakoulas G
Eur J Intern Med 2022 May;99:38-44. Epub 2022 Jan 20 doi: 10.1016/j.ejim.2022.01.024. PMID: 35065879
Brainin P, Frestad D, Prescott E
Int J Cardiol 2018 Mar 1;254:1-9. Epub 2018 Jan 28 doi: 10.1016/j.ijcard.2017.10.052. PMID: 29407076
Fan J, Zhou K, Li S, Du H, Che G
Interact Cardiovasc Thorac Surg 2016 Nov;23(5):790-799. Epub 2016 Jun 29 doi: 10.1093/icvts/ivw208. PMID: 27357469
Overvad TF, Nielsen PB, Larsen TB, Søgaard P
Thromb Haemost 2016 Aug 1;116(2):206-19. Epub 2016 Apr 14 doi: 10.1160/TH15-12-0923. PMID: 27075168
Cuspidi C, Rescaldani M, Sala C
Am J Hypertens 2013 Apr;26(4):456-64. Epub 2013 Feb 6 doi: 10.1093/ajh/hpt001. PMID: 23388831

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