Difference between revisions of "Dilated cardiomyopathy screening"

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(Screening)
 
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Screening is only recommended in individuals who have a family history of Familial Dilated Cardiomyopathy (FDC).  
 
Screening is only recommended in individuals who have a family history of Familial Dilated Cardiomyopathy (FDC).  
  
* In case of 2 or 3 family members affected with primary DCM, reening of relatives, screenign of first degree relatives, using electrocardiogram and echocardiography allows the identification of FDC.
+
* In case of 2 or 3 family members affected with primary DCM, screening of first degree relatives, using electrocardiogram and echocardiography allows the identification of FDC according to guidelines from the Cardiac Genetic Diseases Council.
*FDC can be identified in 20–35% of DCM cases, while the remaining are classified as ‘idiopathic’
+
*FDC can be identified in 20–35% of DCM cases, while the remaining are classified as ‘idiopathic’.<ref name="pmid21885340">{{cite journal| author=Fatkin D, members of the CSANZ Cardiac Genetic Diseases Council Writing Group| title=Guidelines for the diagnosis and management of familial dilated cardiomyopathy. | journal=Heart Lung Circ | year= 2011 | volume= 20 | issue= 11 | pages= 691-3 | pmid=21885340 | doi=10.1016/j.hlc.2011.07.008 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21885340  }}</ref>
 
*FCD is primarily an autosomal dominant disease; however, cases with autosomal recessive or X-linked inheritance have been recognized.
 
*FCD is primarily an autosomal dominant disease; however, cases with autosomal recessive or X-linked inheritance have been recognized.
* Genetic studies have revealed an underlying genetic mutation in 30 to 40% of patients with FCD.  
+
* Genetic studies have revealed an underlying genetic mutation in 30 to 40% of patients with FCD.<ref name="pmid23281406">{{cite journal| author=McNally EM, Golbus JR, Puckelwartz MJ| title=Genetic mutations and mechanisms in dilated cardiomyopathy. | journal=J Clin Invest | year= 2013 | volume= 123 | issue= 1 | pages= 19-26 | pmid=23281406 | doi=10.1172/JCI62862 | pmc=3533274 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23281406  }}</ref>
 
* About 40 genes are currently included in genetic testing; however, mutations in >60 other genes have been linked to FCD, but are yet to be included.
 
* About 40 genes are currently included in genetic testing; however, mutations in >60 other genes have been linked to FCD, but are yet to be included.
*Recent guidelines from the Cardiac Genetic Diseases Council recommend genetic screening for family members at risk of developing FDC.
+
*A cohort study by Haas et al. showed that the genetic mutations in FCD overlap with other cardiomyopathies, highlighting the value of genetic testing in different types of cardiomyopathy.<ref name="pmid25163546">{{cite journal| author=Haas J, Frese KS, Peil B, Kloos W, Keller A, Nietsch R et al.| title=Atlas of the clinical genetics of human dilated cardiomyopathy. | journal=Eur Heart J | year= 2015 | volume= 36 | issue= 18 | pages= 1123-35a | pmid=25163546 | doi=10.1093/eurheartj/ehu301 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25163546  }}</ref>
*A cohort study by Haas et al. showed that the genetic mutations in FCD overlap with other cardiomyopathies, highlighting the value of genetic testing in different types of cardiomyopathy.
+
* Current studies are focusing on the role of multiple mutations, enhancer region mutations, copy number variation, and intronic variants.<ref name="pmid27547593">{{cite journal| author=Sweet M, Taylor MR, Mestroni L| title=Diagnosis, prevalence, and screening of familial dilated cardiomyopathy. | journal=Expert Opin Orphan Drugs | year= 2015 | volume= 3 | issue= 8 | pages= 869-876 | pmid=27547593 | doi=10.1517/21678707.2015.1057498 | pmc=4988677 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27547593  }}</ref>
* Current studies are focusing on the role of multiple mutations, enhancer region mutations, copy number variation, and intronic variants.
 
  
 
==References==
 
==References==

Latest revision as of 17:36, 4 December 2019

Dilated cardiomyopathy Microchapters

Home

Patient Information

Overview

Historical Perspective

Pathophysiology

Causes

Differentiating Dilated cardiomyopathy from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

Chest X Ray

CT

MRI

Echocardiography

Other Imaging Findings

Genetic testing

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Dilated cardiomyopathy screening On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Dilated cardiomyopathy screening

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Dilated cardiomyopathy screening

CDC on Dilated cardiomyopathy screening

Dilated cardiomyopathy screening in the news

Blogs on Dilated cardiomyopathy screening

Directions to Hospitals Treating Dilated cardiomyopathy

Risk calculators and risk factors for Dilated cardiomyopathy screening

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Abdelrahman Ibrahim Abushouk, MD[2]

Overview

The current guidelines recommend screening for dilated cardiomyopathy in individuals with 2 or 3 family members with primary dilated cardiomyopathy. Screening can be performed using electrocardiograms and echocardiography to measure the size and function of the left ventricle. An underlying genetic mutation in the 40 genes (currently assessed in FCD genetic testing) can be detected in 30 to 40% of FCD patients.

Screening

Screening is only recommended in individuals who have a family history of Familial Dilated Cardiomyopathy (FDC).

  • In case of 2 or 3 family members affected with primary DCM, screening of first degree relatives, using electrocardiogram and echocardiography allows the identification of FDC according to guidelines from the Cardiac Genetic Diseases Council.
  • FDC can be identified in 20–35% of DCM cases, while the remaining are classified as ‘idiopathic’.[1]
  • FCD is primarily an autosomal dominant disease; however, cases with autosomal recessive or X-linked inheritance have been recognized.
  • Genetic studies have revealed an underlying genetic mutation in 30 to 40% of patients with FCD.[2]
  • About 40 genes are currently included in genetic testing; however, mutations in >60 other genes have been linked to FCD, but are yet to be included.
  • A cohort study by Haas et al. showed that the genetic mutations in FCD overlap with other cardiomyopathies, highlighting the value of genetic testing in different types of cardiomyopathy.[3]
  • Current studies are focusing on the role of multiple mutations, enhancer region mutations, copy number variation, and intronic variants.[4]

References

  1. Fatkin D, members of the CSANZ Cardiac Genetic Diseases Council Writing Group (2011). "Guidelines for the diagnosis and management of familial dilated cardiomyopathy". Heart Lung Circ. 20 (11): 691–3. doi:10.1016/j.hlc.2011.07.008. PMID 21885340.
  2. McNally EM, Golbus JR, Puckelwartz MJ (2013). "Genetic mutations and mechanisms in dilated cardiomyopathy". J Clin Invest. 123 (1): 19–26. doi:10.1172/JCI62862. PMC 3533274. PMID 23281406.
  3. Haas J, Frese KS, Peil B, Kloos W, Keller A, Nietsch R; et al. (2015). "Atlas of the clinical genetics of human dilated cardiomyopathy". Eur Heart J. 36 (18): 1123–35a. doi:10.1093/eurheartj/ehu301. PMID 25163546.
  4. Sweet M, Taylor MR, Mestroni L (2015). "Diagnosis, prevalence, and screening of familial dilated cardiomyopathy". Expert Opin Orphan Drugs. 3 (8): 869–876. doi:10.1517/21678707.2015.1057498. PMC 4988677. PMID 27547593.



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