On this page you can find some general statistics about the data present in DIDA. General database statistics Variant effects Almost all variants present in DIDA are non-synonymous: 68.41% are missense, 13.74% are frameshift and 8.79% are nonsense. [dida.ibsquare.be]

Somatic DMD mutations should be considered in patients presenting with idiopathic dilated cardiomyopathy. [doi.org]

Sudden cardiac death can occur, and in some instances is the presenting manifestation; sudden cardiac death may occur with minimal or no systolic dysfunction. [ncbi.nlm.nih.gov]

Fifty-three loci have presently been reported. The 17 deafness forms for which the genes have been identified are presented. [ommbid.mhmedical.com]

TAAD can also be present as part of a genetic syndrome. [egl-eurofins.com]

Treatment and prognosis A poor outcome is observed in many affected fetuses. The presence of diastolic dysfunction in a fetal cardiomyopathy is considered to be associated with the highest risk of mortality 4. [radiopaedia.org]

GOAL 4: Provide a basic view of genetic risk assessment of at-risk asymptomatic relatives of a proband with DCM to inform cardiac surveillance and allow early detection and treatment of DCM to improve long-term outcome. [ncbi.nlm.nih.gov]

In most cases, proof of a genetic cause of a CMP has a limited impact on the treatment of the index patient, but can have important implications in regard to family screening and genetic counseling. [clinicalgate.com]

Confirmation of a clinical diagnosis through genetic testing of non-syndromic sensorineural deafness can allow for genetic counseling and may direct medical management and treatment options. [centogene.com]

Treatment of mitochondrial disorders is largely supportive. [aetna.com]

As a disorder with varied penetrance, prognosis of CMD1G varies even between family members. [cags.org.ae]

Treatment and prognosis A poor outcome is observed in many affected fetuses. The presence of diastolic dysfunction in a fetal cardiomyopathy is considered to be associated with the highest risk of mortality 4. [radiopaedia.org]

Prognosis Au Y, Atkinson RA, Guerrini R, Kelly G, Joseph C, Martin SR, Muskett FW, Pallavicini A, Faulkner G, Pastore A Structure 2004 Apr;12(4):611-22. doi: 10.1016/j.str.2004.02.019. [ncbi.nlm.nih.gov]

Stöllberger C, Winkler-Dworak M, Blazek G, Finsterer J (2007) Prognosis of left ventricular hypertrabeculation/concompaction is dependent on cardiac and neuromuscular comorbidity. Int J Cardiol 121:189–193 PubMed CrossRef 14. [springermedizin.de]

Clinical characteristics of peripartum cardiomyopathy in the United States: diagnosis, prognosis, and management. J Am Coll Cardiol. 2011;58:659–70. PubMed CrossRef Google Scholar 19. Rajagopalan N, Attili AK, Bodiwala K, Bailey AL. [link.springer.com]

Valvular heart disease, hypertension, sarcoidosis, amyloidosis, Chagas disease, alcohol abuse, infections, and pregnancy, among others, need to be considered as possible etiologies. [clinicalgate.com]

Reduced systolic function MedGen UID: 870560 • Concept ID: C4025008 • Finding Etiology Murakoshi M, Takasawa K, Nishioka M, Asakawa M, Kashimada K, Yoshimoto T, Yamamoto T, Takekoshi K, Ogawa Y, Shimohira M Am J Med Genet A 2017 Feb;173(2):495-500. [ncbi.nlm.nih.gov]

Enriques SG, Entem FR, Cobo M, Olalla JJ (2007) Uncommon etiology of syncope in a patient with isolated ventricular noncompaction. PACE 30:577–579 CrossRef 48. [springermedizin.de]

Candidates for diagnostic testing include infants, children, and adults with generalized hypotonia and proximal muscle weakness of unknown etiology. [aetna.com]

Prevalence and etiology of idiopathic dilated cardiomyopathy (summary of a National Heart, Lung, and Blood Institute workshop). Am. J. Cardiol. 69, 1458–1466 (1992). 129. Caforio, A. L. et al. [nature.com]

From the molecular data presently available, three main epidemiologic results emerge: (a) Mutations in the gene encoding a gap junction protein, connexin 26, account for about half of the cases of prelingual isolated deafness in Caucasian populations; [ommbid.mhmedical.com]

Relevant External Links for EYA4 Genetic Association Database (GAD) EYA4 Human Genome Epidemiology (HuGE) Navigator EYA4 Atlas of Genetics and Cytogenetics in Oncology and Haematology: EYA4 No data available for Genatlas for EYA4 Gene EYA4, a novel vertebrate [genecards.org]

J. 3rd Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy: a population-based study in Olmsted County, Minnesota, 1975–1984. Circulation 80, 564–572 (1989). 21. Maron, B. J. et al. [nature.com]

Epidemiology The incidence of nonischemic dilated CMP in adults in Western countries varies from 5 to 8 per 100,000 person-years, with a prevalence of 36 to 40 per 100,000 individuals. [clinicalgate.com]

[…] association scientific statement from the council on clinical cardiology, heart failure and transplantation committee; quality of care and outcomes research and functional genomics and translational biology interdisciplinary working groups; and council on epidemiology [link.springer.com]

Each form is introduced by a brief history of how the gene was discovered, followed by the description of its clinical features and the established or putative role of the encoded protein, as well as the current hypotheses concerning the associated pathophysiological [ommbid.mhmedical.com]

Clinical manifestations, pathophysiology, and diagnosis of atrioventricular (AV) canal defects. UpToDate [online serial]. Waltham, MA: UpToDate; reviewed December 2013. Altman CA. [aetna.com]

LVEF has remained the most studied and the most powerful predictor and is the primary method currently used in clinical decisions for the prevention of SCD in patients with heart failure. [clinicalgate.com]

While pharmacotherapies have made some impact on the prevention of SCD, the introduction of implantable cardioverter-defibrillator (ICD) therapy has been the single major advance in the prevention of SCD in the young. [aetna.com]

[…] statement from the council on clinical cardiology, heart failure and transplantation committee; quality of care and outcomes research and functional genomics and translational biology interdisciplinary working groups; and council on epidemiology and prevention [link.springer.com]

Statement form the Council on Clinical Cardiology, Heart Failure and Transplantation Committee: Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and the Council on Epidemiology and Prevention [springermedizin.de]

Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention [nature.com]