Recovery in Patients With Dilated Cardiomyopathy With Loss-of-Function Mutations in the Titin Gene

Kevin Luk; Abeer Bakhsh; Nadia Giannetti; Eleanor Elstein; Mark Lathrop; George Thanassoulis; James C Engert

doi:10.1001/jamacardio.2017.0763

Recovery in Patients With Dilated Cardiomyopathy With Loss-of-Function Mutations in the Titin Gene

JAMA Cardiol. 2017 Jun 1;2(6):700-702. doi: 10.1001/jamacardio.2017.0763.

Authors

Kevin Luk¹, Abeer Bakhsh², Nadia Giannetti², Eleanor Elstein³, Mark Lathrop⁴, George Thanassoulis⁵, James C Engert⁶

Affiliations

¹ School of Computer Science, McGill University, Montreal, Quebec, Canada2Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.
² Division of Cardiology, Department of Medicine, Royal Victoria Hospital, McGill University Health Centre, Montreal, Quebec, Canada4Heart Failure Clinic, Royal Victoria Hospital, McGill University Health Centre, Montreal, Quebec, Canada.
³ Division of Cardiology, Department of Medicine, Royal Victoria Hospital, McGill University Health Centre, Montreal, Quebec, Canada.
⁴ McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada6Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
⁵ Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada3Division of Cardiology, Department of Medicine, Royal Victoria Hospital, McGill University Health Centre, Montreal, Quebec, Canada7Preventive and Genomic Cardiology, McGill University Health Center, Montreal, Quebec, Canada.
⁶ Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada3Division of Cardiology, Department of Medicine, Royal Victoria Hospital, McGill University Health Centre, Montreal, Quebec, Canada6Department of Human Genetics, McGill University, Montreal, Quebec, Canada7Preventive and Genomic Cardiology, McGill University Health Center, Montreal, Quebec, Canada.

Abstract

This study compares the prevalence of titin gene mutations in patients with dilated cardiomyopathy receiving standard pharmacological therapy with and without recovery of systolic function.

MeSH terms

Adolescent
Adult
Aged
Aged, 80 and over
Cardiomyopathy, Dilated / drug therapy*
Cardiomyopathy, Dilated / genetics
Cardiomyopathy, Dilated / physiopathology
Connectin / genetics*
Female
Humans
Loss of Function Mutation
Male
Middle Aged
Prognosis
Recovery of Function*
Stroke Volume
Systole
Young Adult

Substances

Connectin
TTN protein, human