Increased ventilatory response to exercise in symptomatic and asymptomatic LMNA mutation carriers : a follow-up study

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http://hdl.handle.net/10138/173831

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Ollila , L , Heliö , T , Sovijärvi , A , Jalanko , M , Kaartinen , M , Kuusisto , J , Kärkkäinen , S , Jurkko , R , Reissell , E , Palojoki , E & Piirilä , P 2017 , ' Increased ventilatory response to exercise in symptomatic and asymptomatic LMNA mutation carriers : a follow-up study ' , Clinical Physiology and Functional Imaging , vol. 37 , no. 1 , pp. 8-16 . https://doi.org/10.1111/cpf.12260

Title: Increased ventilatory response to exercise in symptomatic and asymptomatic LMNA mutation carriers : a follow-up study
Author: Ollila, Laura; Heliö, Tiina; Sovijärvi, Anssi; Jalanko, Mikko; Kaartinen, Maija; Kuusisto, Johanna; Kärkkäinen, Satu; Jurkko, Raija; Reissell, Eeva; Palojoki, Eeva; Piirilä, Päivi
Contributor: University of Helsinki, HUS Heart and Lung Center
University of Helsinki, HUS Heart and Lung Center
University of Helsinki, HUS Medical Imaging Center
University of Helsinki, HUS Heart and Lung Center
University of Helsinki, Clinicum
University of Helsinki, HUS Heart and Lung Center
University of Helsinki, Kardiologian yksikkö
University of Helsinki, Clinicum
University of Helsinki, Clinicum
Date: 2017-01
Language: eng
Number of pages: 9
Belongs to series: Clinical Physiology and Functional Imaging
ISSN: 1475-0961
URI: http://hdl.handle.net/10138/173831
Abstract: BackgroundLMNA mutations are an important cause of cardiomyopathy often leading to cardiac arrhythmias, heart failure and even heart transplantation. An increasing number of asymptomatic mutation carriers are identified, as family members of the index patients are screened. Our aim was to study the disease progression in asymptomatic LMNA mutation carriers and in patients with symptomatic cardiolaminopathy by repeated spiroergometric testing in a prospective clinical follow-up study. Methods and ResultsWe studied 26 LMNA mutation carriers once a year during 5years up to 6 times by spiroergometry, clinical assessment, laboratory tests and echocardiography. The 23 control subjects underwent clinical assessment and spiroergometry once. Twelve of the mutation carriers were asymptomatic, and 14 had some clinical manifestations of the mutation ranging from clinically relevant rhythm disturbances to DCM and heart failure. Compared to controls, the symptomatic carriers showed a higher slope of the ventilatory equivalent for CO2 (VE/VCO2 slope) and a lower fraction of end-tidal CO2 (FetCO(2)). The asymptomatic mutation carriers also showed an increased ventilatory response to exercise during the follow-up as indicated by increased VE/VCO2 slope and decreased FetCO(2). ConclusionsThe study suggests that an increased ventilatory response during exercise might reveal a preclinical manifestation of DCM in LMNA mutation carriers.
Subject: cardiomyopathy
clinical exercise testing
FetCO(2)
spiroergometry
(V) over dotE (V) over dotCO(2) slope
CHRONIC HEART-FAILURE
DILATED CARDIOMYOPATHY
VE/VCO2 SLOPE
PROGNOSTIC VALUE
PEAK VO2
CARDIAC PATIENTS
HIGH-RISK
METAANALYSIS
ASSOCIATION
EFFICIENCY
3121 General medicine, internal medicine and other clinical medicine
3126 Surgery, anesthesiology, intensive care, radiology
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