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Cardiomyopathy, familial hypertrophic, 30, atrial(CMH30)

MedGen UID:
1858408
Concept ID:
C5935586
Disease or Syndrome
Synonym: CMH30
 
Gene (location): CORIN (4p12)
 
Monarch Initiative: MONDO:0958241
OMIM®: 620734

Definition

Familial atrial hypertrophic cardiomyopathy-30 (CMH30) is characterized by atrial arrhythmias, including flutter and fibrillation, atrial structural abnormalities with hypertrophic cardiomyopathy and fibrosis, and hypertension (Baris Feldman et al., 2023). [from OMIM]

Clinical features

From HPO
Atrial fibrillation
MedGen UID:
445
Concept ID:
C0004238
Finding
An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.
Atrial flutter
MedGen UID:
13955
Concept ID:
C0004239
Pathologic Function
A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Left atrial enlargement
MedGen UID:
536845
Concept ID:
C0238705
Finding
Increase in size of the left atrium.
Reduced left ventricular ejection fraction
MedGen UID:
868398
Concept ID:
C4022792
Finding
A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.
Left atrial fibrosis
MedGen UID:
1854182
Concept ID:
C5936472
Pathologic Function
Atrial fibrosis is an hallmark of atrial structural remodelling, characterized by the aberrant activation, proliferation and differentiation of fibroblasts, and subsequent excessive synthesis and irregular deposition of extracellular matrix proteins.
Increased circulating brain natriuretic peptide concentration
MedGen UID:
1779799
Concept ID:
C5539662
Finding
An increased concentration of brain natriuretic peptide in the blood circulation.
Reduced circulating NT-proANP concentration
MedGen UID:
1053832
Concept ID:
CN377522
Finding
The concentration of NT-proANP in the blood circulation is below the lower limit of normal.

Professional guidelines

PubMed

Brito D, Richard P, Komajda M, Madeira H
Rev Port Cardiol 2008 Feb;27(2):147-73. PMID: 18488914

Recent clinical studies

Etiology

Preveden A, Golubovic M, Bjelobrk M, Miljkovic T, Ilic A, Stojsic S, Gajic D, Glavaski M, Maier LS, Okwose N, Popovic D, Barlocco F, Ristic A, MacGowan GA, Olivotto I, Filipovic N, Jakovljevic DG, Velicki L
Medicina (Kaunas) 2022 Feb 18;58(2) doi: 10.3390/medicina58020314. PMID: 35208637Free PMC Article
Kubo T, Kitaoka H, Okawa M, Hirota T, Hoshikawa E, Hayato K, Yamasaki N, Matsumura Y, Yabe T, Nishinaga M, Takata J, Doi YL
Circ J 2009 Dec;73(12):2330-6. Epub 2009 Oct 17 doi: 10.1253/circj.cj-09-0438. PMID: 19838003
Brito D, Richard P, Komajda M, Madeira H
Rev Port Cardiol 2008 Feb;27(2):147-73. PMID: 18488914
Nagueh SF, McFalls J, Meyer D, Hill R, Zoghbi WA, Tam JW, Quiñones MA, Roberts R, Marian AJ
Circulation 2003 Jul 29;108(4):395-8. Epub 2003 Jul 14 doi: 10.1161/01.CIR.0000084500.72232.8D. PMID: 12860897Free PMC Article
Roberts R, Brugada R
Am J Med Genet 2000 Winter;97(4):310-8. doi: 10.1002/1096-8628(200024)97:4<310::aid-ajmg1282>3.0.co;2-7. PMID: 11376443

Diagnosis

Preveden A, Golubovic M, Bjelobrk M, Miljkovic T, Ilic A, Stojsic S, Gajic D, Glavaski M, Maier LS, Okwose N, Popovic D, Barlocco F, Ristic A, MacGowan GA, Olivotto I, Filipovic N, Jakovljevic DG, Velicki L
Medicina (Kaunas) 2022 Feb 18;58(2) doi: 10.3390/medicina58020314. PMID: 35208637Free PMC Article
Yuan L, Xie M, Cheng TO, Wang X, Zhu F, Kong X, Ghoorah D
Int J Cardiol 2014 Jun 15;174(2):249-59. Epub 2014 Mar 15 doi: 10.1016/j.ijcard.2014.03.006. PMID: 24698237
Kubo T, Kitaoka H, Okawa M, Hirota T, Hoshikawa E, Hayato K, Yamasaki N, Matsumura Y, Yabe T, Nishinaga M, Takata J, Doi YL
Circ J 2009 Dec;73(12):2330-6. Epub 2009 Oct 17 doi: 10.1253/circj.cj-09-0438. PMID: 19838003
Brito D, Richard P, Komajda M, Madeira H
Rev Port Cardiol 2008 Feb;27(2):147-73. PMID: 18488914
Nagueh SF, McFalls J, Meyer D, Hill R, Zoghbi WA, Tam JW, Quiñones MA, Roberts R, Marian AJ
Circulation 2003 Jul 29;108(4):395-8. Epub 2003 Jul 14 doi: 10.1161/01.CIR.0000084500.72232.8D. PMID: 12860897Free PMC Article

Therapy

Nagueh SF, McFalls J, Meyer D, Hill R, Zoghbi WA, Tam JW, Quiñones MA, Roberts R, Marian AJ
Circulation 2003 Jul 29;108(4):395-8. Epub 2003 Jul 14 doi: 10.1161/01.CIR.0000084500.72232.8D. PMID: 12860897Free PMC Article

Prognosis

Preveden A, Golubovic M, Bjelobrk M, Miljkovic T, Ilic A, Stojsic S, Gajic D, Glavaski M, Maier LS, Okwose N, Popovic D, Barlocco F, Ristic A, MacGowan GA, Olivotto I, Filipovic N, Jakovljevic DG, Velicki L
Medicina (Kaunas) 2022 Feb 18;58(2) doi: 10.3390/medicina58020314. PMID: 35208637Free PMC Article
Kubo T, Kitaoka H, Okawa M, Hirota T, Hoshikawa E, Hayato K, Yamasaki N, Matsumura Y, Yabe T, Nishinaga M, Takata J, Doi YL
Circ J 2009 Dec;73(12):2330-6. Epub 2009 Oct 17 doi: 10.1253/circj.cj-09-0438. PMID: 19838003
Brito D, Richard P, Komajda M, Madeira H
Rev Port Cardiol 2008 Feb;27(2):147-73. PMID: 18488914
Nagueh SF, McFalls J, Meyer D, Hill R, Zoghbi WA, Tam JW, Quiñones MA, Roberts R, Marian AJ
Circulation 2003 Jul 29;108(4):395-8. Epub 2003 Jul 14 doi: 10.1161/01.CIR.0000084500.72232.8D. PMID: 12860897Free PMC Article
Roberts R, Brugada R
Am J Med Genet 2000 Winter;97(4):310-8. doi: 10.1002/1096-8628(200024)97:4<310::aid-ajmg1282>3.0.co;2-7. PMID: 11376443

Clinical prediction guides

Abecasis J, Gouveia R, Castro M, Andrade MJ, Ribeiras R, Ramos S, Abecasis M, Cardim N, Gil V
Cardiovasc Pathol 2018 Mar-Apr;33:32-38. Epub 2018 Jan 3 doi: 10.1016/j.carpath.2017.12.002. PMID: 29414430
Nagueh SF, McFalls J, Meyer D, Hill R, Zoghbi WA, Tam JW, Quiñones MA, Roberts R, Marian AJ
Circulation 2003 Jul 29;108(4):395-8. Epub 2003 Jul 14 doi: 10.1161/01.CIR.0000084500.72232.8D. PMID: 12860897Free PMC Article

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