Forskning
Udskriv Udskriv
Switch language
Rigshospitalet - en del af Københavns Universitetshospital
E-pub ahead of print

Dilated cardiomyopathy caused by truncating titin variants: long-term outcomes, arrhythmias, response to treatment and sex differences

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Cardiovascular disease in women with breast cancer - a nationwide cohort study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Dabigatran and The Risk of Staphylococcus Aureus Bacteremia- A Nationwide Cohort Study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Mid-regional pro-atrial natriuretic peptide levels before and after hemodialysis predict long-term prognosis

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Danish Citizen´s Preferences for at-home Oropharyngeal/nasal SARS-CoV-2 Specimen Collection

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

BACKGROUND: Truncating variants in titin (TTNtv) are the most common cause of dilated cardiomyopathy (DCM). We evaluated the genotype-phenotype correlation in TTNtv-DCM, with a special focus on long-term outcomes, arrhythmias, response to treatment and sex-related presentation.

METHODS: Data on patient characteristics and outcomes were collected retrospectively from electronic health records of patients genotyped at two Danish heart transplantation centres.

RESULTS: We included 115 patients (66% men). At diagnosis of DCM, mean age was 46±13 years and left ventricular ejection fraction (LVEF) was 28%±13%. During a median follow-up of 7.9 years, 26% reached a composite outcome of left ventricular assist device implantation, heart transplantation or death. In 20% an arrhythmia preceded the DCM diagnosis. In total, 43% had atrial fibrillation (AF) and 23% had ventricular arrhythmias. Long-term left ventricular reverse remodelling (LVRR; LVEF increase ≥10% points or normalisation) was achieved in 58% and occurred more frequently in women (72% vs 51%, p=0.042).In multivariable proportional hazards analyses, occurrence of LVRR was a strong independent negative predictor of the composite outcome (HR: 0.05 (95% CI 0.02 to 0.14); p<0.001). Female sex independently predicted lower rates of ventricular arrhythmias (HR: 0.33 (95% CI 0.11 to 0.99); p=0.05), while the location of the TTNtv was not associated with cardiovascular outcomes.

CONCLUSION: DCM caused by TTNtv presented in midlife and was associated with a high burden of AF and ventricular arrhythmias, which often preceded DCM diagnosis. Furthermore, LVRR occurred in a high proportion of patients and was a strong negative predictor of the composite outcome. Female sex was positively associated with occurrence of LVRR and longer event-free survival.

OriginalsprogEngelsk
TidsskriftJournal of Medical Genetics
ISSN0022-2593
DOI
StatusE-pub ahead of print - 2021

Bibliografisk note

© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.

ID: 61994781