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Cardiomyopathy, familial hypertrophic, 30, atrial(CMH30)

MedGen UID:
1054860
•Concept ID:
CN376925
•
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]

Professional guidelines

PubMed

Familial and sporadic hypertrophic myopathy: differences and similarities in a genotyped population. A long follow-up study.
Brito D, Richard P, Komajda M, Madeira H
Rev Port Cardiol 2008 Feb;27(2):147-73. PMID: 18488914

Recent clinical studies

Etiology

Gender Related Differences in the Clinical Presentation of Hypertrophic Cardiomyopathy-An Analysis from the SILICOFCM Database.
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
Surgical pathology of subaortic septal myectomy: histology skips over clinical diagnosis.
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
Clinical profiles of hypertrophic cardiomyopathy with apical phenotype--comparison of pure-apical form and distal-dominant form.
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
Familial and sporadic hypertrophic myopathy: differences and similarities in a genotyped population. A long follow-up study.
Brito D, Richard P, Komajda M, Madeira H
Rev Port Cardiol 2008 Feb;27(2):147-73. PMID: 18488914
Tissue Doppler imaging predicts the development of hypertrophic cardiomyopathy in subjects with subclinical disease.
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

Diagnosis

Gender Related Differences in the Clinical Presentation of Hypertrophic Cardiomyopathy-An Analysis from the SILICOFCM Database.
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
Surgical pathology of subaortic septal myectomy: histology skips over clinical diagnosis.
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
Left ventricular noncompaction associated with hypertrophic cardiomyopathy: echocardiographic diagnosis and genetic analysis of a new pedigree in China.
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
Clinical profiles of hypertrophic cardiomyopathy with apical phenotype--comparison of pure-apical form and distal-dominant form.
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
Familial and sporadic hypertrophic myopathy: differences and similarities in a genotyped population. A long follow-up study.
Brito D, Richard P, Komajda M, Madeira H
Rev Port Cardiol 2008 Feb;27(2):147-73. PMID: 18488914

Therapy

Tissue Doppler imaging predicts the development of hypertrophic cardiomyopathy in subjects with subclinical disease.
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

Gender Related Differences in the Clinical Presentation of Hypertrophic Cardiomyopathy-An Analysis from the SILICOFCM Database.
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
Surgical pathology of subaortic septal myectomy: histology skips over clinical diagnosis.
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
Clinical profiles of hypertrophic cardiomyopathy with apical phenotype--comparison of pure-apical form and distal-dominant form.
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
Familial and sporadic hypertrophic myopathy: differences and similarities in a genotyped population. A long follow-up study.
Brito D, Richard P, Komajda M, Madeira H
Rev Port Cardiol 2008 Feb;27(2):147-73. PMID: 18488914
Tissue Doppler imaging predicts the development of hypertrophic cardiomyopathy in subjects with subclinical disease.
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

Clinical prediction guides

Surgical pathology of subaortic septal myectomy: histology skips over clinical diagnosis.
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
Tissue Doppler imaging predicts the development of hypertrophic cardiomyopathy in subjects with subclinical disease.
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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    • ClinVar
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      OMIM records containing genes associated with phenotypes registered in MedGen
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