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Right atrial enlargement

MedGen UID:
677114
Concept ID:
C0748427
Disease or Syndrome
Synonym: Enlarged right atrium
SNOMED CT: Right atrial enlargement (67751000119106)
 
HPO: HP:0030718

Definition

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

Term Hierarchy

Conditions with this feature

Hypertrophic cardiomyopathy 4
MedGen UID:
350526
Concept ID:
C1861862
Disease or Syndrome
Nonfamilial hypertrophic cardiomyopathy tends to be milder. This form typically begins later in life than familial hypertrophic cardiomyopathy, and affected individuals have a lower risk of serious cardiac events and sudden death than people with the familial form.\n\nWhile most people with familial hypertrophic cardiomyopathy are symptom-free or have only mild symptoms, this condition can have serious consequences. It can cause abnormal heart rhythms (arrhythmias) that may be life threatening. People with familial hypertrophic cardiomyopathy have an increased risk of sudden death, even if they have no other symptoms of the condition. A small number of affected individuals develop potentially fatal heart failure, which may require heart transplantation.\n\nThe symptoms of familial hypertrophic cardiomyopathy are variable, even within the same family. Many affected individuals have no symptoms. Other people with familial hypertrophic cardiomyopathy may experience chest pain; shortness of breath, especially with physical exertion; a sensation of fluttering or pounding in the chest (palpitations); lightheadedness; dizziness; and fainting.\n\nIn familial hypertrophic cardiomyopathy, cardiac thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle). In some people, thickening of the interventricular septum impedes the flow of oxygen-rich blood from the heart, which may lead to an abnormal heart sound during a heartbeat (heart murmur) and other signs and symptoms of the condition. Other affected individuals do not have physical obstruction of blood flow, but the pumping of blood is less efficient, which can also lead to symptoms of the condition. Familial hypertrophic cardiomyopathy often begins in adolescence or young adulthood, although it can develop at any time throughout life.\n\nHypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. When multiple members of a family have the condition, it is known as familial hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy also occurs in people with no family history; these cases are considered nonfamilial hypertrophic cardiomyopathy. 
Cardiomyopathy, familial restrictive, 3
MedGen UID:
382807
Concept ID:
C2676271
Disease or Syndrome
Familial restrictive cardiomyopathy is a genetic form of heart disease. For the heart to beat normally, the heart (cardiac) muscle must contract and relax in a coordinated way. Oxygen-rich blood from the lungs travels first through the upper chambers of the heart (the atria), and then to the lower chambers of the heart (the ventricles).\n\nIn people with familial restrictive cardiomyopathy, the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles.\n\nFamilial restrictive cardiomyopathy can appear anytime from childhood to adulthood. The first signs and symptoms of this condition in children are failure to gain weight and grow at the expected rate (failure to thrive), extreme tiredness (fatigue), and fainting. Children who are severely affected may also have abnormal swelling or puffiness (edema), increased blood pressure, an enlarged liver, an abnormal buildup of fluid in the abdominal cavity (ascites), and lung congestion. Some children with familial restrictive cardiomyopathy do not have any obvious signs or symptoms, but they may die suddenly due to heart failure. Without treatment, the majority of affected children survive only a few years after they are diagnosed.\n\nAdults with familial restrictive cardiomyopathy typically first develop shortness of breath, fatigue, and a reduced ability to exercise. Some individuals have an irregular heart beat (arrhythmia) and may also experience a sensation of fluttering or pounding in the chest (palpitations) and dizziness. Abnormal blood clots are commonly seen in adults with this condition. Without treatment, approximately one-third of adults with familial restrictive cardiomyopathy do not survive more than five years after diagnosis.
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).
Arterial calcification, generalized, of infancy, 2
MedGen UID:
477791
Concept ID:
C3276161
Disease or Syndrome
Generalized arterial calcification of infancy (GACI) is characterized by infantile onset of widespread arterial calcification and/or narrowing of large and medium-sized vessels resulting in cardiovascular findings (which can include heart failure, respiratory distress, edema, cyanosis, hypertension, and/or cardiomegaly). Additional findings can include typical skin and retinal manifestations of pseudoxanthoma elasticum (PXE), periarticular calcifications, development of rickets after infancy, cervical spine fusion, and hearing loss. While mortality in infancy is high, survival into the third and fourth decades has occurred.
Hydrocephalus, nonsyndromic, autosomal recessive 2
MedGen UID:
767605
Concept ID:
C3554691
Disease or Syndrome
Congenital hydrocephalus-2 (HYC2) is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017). For a discussion of genetic heterogeneity of congenital hydrocephalus, see 233600.
Adams-Oliver syndrome 5
MedGen UID:
863407
Concept ID:
C4014970
Disease or Syndrome
Adams-Oliver syndrome (AOS) is characterized by aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). ACC lesions usually occur in the midline of the parietal or occipital regions, but can also occur on the abdomen or limbs. At birth, an ACC lesion may already have the appearance of a healed scar. ACC lesions less than 5 cm often involve only the skin and almost always heal over a period of months; larger lesions are more likely to involve the skull and possibly the dura, and are at greater risk for complications, which can include infection, hemorrhage, or thrombosis, and can result in death. The limb defects range from mild (unilateral or bilateral short distal phalanges) to severe (complete absence of all toes or fingers, feet or hands, or more, often resembling an amputation). The lower extremities are almost always more severely affected than the upper extremities. Additional major features frequently include cardiovascular malformations/dysfunction (23%), brain anomalies, and less frequently renal, liver, and eye anomalies.
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).
Immunodeficiency 80 with or without congenital cardiomyopathy
MedGen UID:
1786417
Concept ID:
C5543344
Disease or Syndrome
Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80) is an autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported (summary by Baxley et al., 2021).
Cardiomyopathy, dilated, 2D
MedGen UID:
1782612
Concept ID:
C5543535
Disease or Syndrome
Dilated cardiomyopathy-2D (CMD2D) is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation (Ganapathi et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200.
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).
Respiratory infections, recurrent, and failure to thrive with or without diarrhea
MedGen UID:
1824079
Concept ID:
C5774306
Disease or Syndrome
Recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD) is characterized by neonatal onset of chronic cough, episodic wheezing, recurrent lower respiratory tract infections, chronic diarrhea, and failure to thrive. Despite the resemblance to cystic fibrosis (CF; 219700), these patients have normal sweat chloride and pancreatic elastase tests (Bertoli-Avella et al., 2022).

Professional guidelines

PubMed

Li J, Li R, Cheng G, Lu C, Liu W, Sun D, Li X, Wang Z
J Int Med Res 2022 Nov;50(11):3000605221134468. doi: 10.1177/03000605221134468. PMID: 36345170Free PMC Article
Habib G, Torbicki A
Eur Respir Rev 2010 Dec;19(118):288-99. doi: 10.1183/09059180.00008110. PMID: 21119187Free PMC Article
Reeves WC, Hallahan W, Schwiter EJ, Ciotola TJ, Buonocore E, Davidson W
Circulation 1981 Aug;64(2):387-91. doi: 10.1161/01.cir.64.2.387. PMID: 6454512

Recent clinical studies

Etiology

Alerhand S, Adrian RJ
Am J Emerg Med 2023 Oct;72:72-84. Epub 2023 Jul 10 doi: 10.1016/j.ajem.2023.07.011. PMID: 37499553
Falsetti L, Marra AM, Zaccone V, Sampaolesi M, Riccomi F, Giovenali L, Guerrieri E, Viticchi G, D'Agostino A, Gentili T, Nitti C, Moroncini G, Cittadini A, Salvi A
Intern Emerg Med 2022 Aug;17(5):1287-1299. Epub 2022 Jan 21 doi: 10.1007/s11739-021-02910-w. PMID: 35059990
Limongelli G, Masarone D, Frisso G, Iacomino M, Ferrara I, Rea A, Gravino R, Bossone E, Salvatore F, Calabro R, Elliott P, Pacileo G
J Cardiovasc Med (Hagerstown) 2017 Apr;18(4):249-254. doi: 10.2459/JCM.0000000000000361. PMID: 26808413
Stein PD, Matta F, Ekkah M, Saleh T, Janjua M, Patel YR, Khadra H
Am J Cardiol 2012 Dec 15;110(12):1836-40. Epub 2012 Sep 21 doi: 10.1016/j.amjcard.2012.08.019. PMID: 23000104
Habib G, Torbicki A
Eur Respir Rev 2010 Dec;19(118):288-99. doi: 10.1183/09059180.00008110. PMID: 21119187Free PMC Article

Diagnosis

Alerhand S, Adrian RJ
Am J Emerg Med 2023 Oct;72:72-84. Epub 2023 Jul 10 doi: 10.1016/j.ajem.2023.07.011. PMID: 37499553
Li J, Li R, Cheng G, Lu C, Liu W, Sun D, Li X, Wang Z
J Int Med Res 2022 Nov;50(11):3000605221134468. doi: 10.1177/03000605221134468. PMID: 36345170Free PMC Article
Limongelli G, Masarone D, Frisso G, Iacomino M, Ferrara I, Rea A, Gravino R, Bossone E, Salvatore F, Calabro R, Elliott P, Pacileo G
J Cardiovasc Med (Hagerstown) 2017 Apr;18(4):249-254. doi: 10.2459/JCM.0000000000000361. PMID: 26808413
Stein PD, Matta F, Ekkah M, Saleh T, Janjua M, Patel YR, Khadra H
Am J Cardiol 2012 Dec 15;110(12):1836-40. Epub 2012 Sep 21 doi: 10.1016/j.amjcard.2012.08.019. PMID: 23000104
Habib G, Torbicki A
Eur Respir Rev 2010 Dec;19(118):288-99. doi: 10.1183/09059180.00008110. PMID: 21119187Free PMC Article

Therapy

Dewaswala N, Chen D, Bhopalwala H, Kaggal VC, Murphy SP, Bos JM, Geske JB, Gersh BJ, Ommen SR, Araoz PA, Ackerman MJ, Arruda-Olson AM
BMC Med Inform Decis Mak 2022 Oct 18;22(1):272. doi: 10.1186/s12911-022-02017-y. PMID: 36258218Free PMC Article
Bikdeli B, Lobo JL, Jiménez D, Green P, Fernández-Capitán C, Bura-Riviere A, Otero R, DiTullio MR, Galindo S, Ellis M, Parikh SA, Monreal M; RIETE Investigators
J Am Heart Assoc 2018 Sep 4;7(17):e009042. doi: 10.1161/JAHA.118.009042. PMID: 30371152Free PMC Article
Tsilonis K, Sarafidis PA, Kamperidis V, Loutradis C, Georgianos PI, Imprialos K, Ziakas A, Sianos G, Nikolaidis P, Lasaridis AN, Karvounis H
Am J Kidney Dis 2016 Nov;68(5):772-781. Epub 2016 Aug 18 doi: 10.1053/j.ajkd.2016.06.017. PMID: 27545351
Ostovan M, Shahrzad S, Taban S, Moniri A
Asian Cardiovasc Thorac Ann 2013 Dec;21(6):717-9. Epub 2013 Jul 1 doi: 10.1177/0218492312463148. PMID: 24569332
Kaplan JD, Evans GT Jr, Foster E, Lim D, Schiller NB
J Am Coll Cardiol 1994 Mar 1;23(3):747-52. doi: 10.1016/0735-1097(94)90763-3. PMID: 8113560

Prognosis

Falsetti L, Marra AM, Zaccone V, Sampaolesi M, Riccomi F, Giovenali L, Guerrieri E, Viticchi G, D'Agostino A, Gentili T, Nitti C, Moroncini G, Cittadini A, Salvi A
Intern Emerg Med 2022 Aug;17(5):1287-1299. Epub 2022 Jan 21 doi: 10.1007/s11739-021-02910-w. PMID: 35059990
Chiriac A, Riley DC, Russell M, Moore JP, Padmanabhan D, Hodge DO, Spiegel MR, Vargas ER, Phillips SD, Ammash NM, Madhavan M, Asirvatham SJ, McLeod CJ
J Am Heart Assoc 2020 Mar 17;9(6):e014554. Epub 2020 Mar 15 doi: 10.1161/JAHA.119.014554. PMID: 32174228Free PMC Article
Silbiger JJ
Echocardiography 2019 May;36(5):954-957. Epub 2019 Mar 27 doi: 10.1111/echo.14327. PMID: 30919501
Limongelli G, Masarone D, Frisso G, Iacomino M, Ferrara I, Rea A, Gravino R, Bossone E, Salvatore F, Calabro R, Elliott P, Pacileo G
J Cardiovasc Med (Hagerstown) 2017 Apr;18(4):249-254. doi: 10.2459/JCM.0000000000000361. PMID: 26808413
Habib G, Torbicki A
Eur Respir Rev 2010 Dec;19(118):288-99. doi: 10.1183/09059180.00008110. PMID: 21119187Free PMC Article

Clinical prediction guides

Falsetti L, Marra AM, Zaccone V, Sampaolesi M, Riccomi F, Giovenali L, Guerrieri E, Viticchi G, D'Agostino A, Gentili T, Nitti C, Moroncini G, Cittadini A, Salvi A
Intern Emerg Med 2022 Aug;17(5):1287-1299. Epub 2022 Jan 21 doi: 10.1007/s11739-021-02910-w. PMID: 35059990
Chiriac A, Riley DC, Russell M, Moore JP, Padmanabhan D, Hodge DO, Spiegel MR, Vargas ER, Phillips SD, Ammash NM, Madhavan M, Asirvatham SJ, McLeod CJ
J Am Heart Assoc 2020 Mar 17;9(6):e014554. Epub 2020 Mar 15 doi: 10.1161/JAHA.119.014554. PMID: 32174228Free PMC Article
Prins KW, Rose L, Archer SL, Pritzker M, Weir EK, Olson MD, Thenappan T
J Am Heart Assoc 2019 Jan 22;8(2):e011464. doi: 10.1161/JAHA.118.011464. PMID: 30646788Free PMC Article
Limongelli G, Masarone D, Frisso G, Iacomino M, Ferrara I, Rea A, Gravino R, Bossone E, Salvatore F, Calabro R, Elliott P, Pacileo G
J Cardiovasc Med (Hagerstown) 2017 Apr;18(4):249-254. doi: 10.2459/JCM.0000000000000361. PMID: 26808413
Stein PD, Matta F, Ekkah M, Saleh T, Janjua M, Patel YR, Khadra H
Am J Cardiol 2012 Dec 15;110(12):1836-40. Epub 2012 Sep 21 doi: 10.1016/j.amjcard.2012.08.019. PMID: 23000104

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