Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction

Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction

Introduction: Cardiomyopathies are diseases of the heart muscle and are important causes of heart failure. Dilated cardiomyopathy (DCM) is a common form of cardiomyopathy that can be acquired, syndromic or non-syndromic. The current study was conducted to explore the genetic defects in a Pakistani f...

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Bibliographic Details
Main Authors: Nadia Farooqi, Louise A. Metherell, Isabelle Schrauwen, Anushree Acharya, Qayum Khan, Liz M. Nouel Saied, Yasir Ali, Hamed A. El-Serehy, Fazal Jalil, Suzanne M. Leal
Format: Article
Language:English
Published: MDPI AG 2021-11-01
Series:Genes
Subjects:
cardiovascular diseases
dilated cardiomyopathy
Marfan syndrome
left ventricular diastolic dysfunction
whole exome sequencing
Online Access:https://www.mdpi.com/2073-4425/12/12/1915

Internet

https://www.mdpi.com/2073-4425/12/12/1915

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