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Lamin A/C cardiomyopathy is a malignant and highly penetrant inheritable cardiomyopathy. Competitive sports have been associated with adverse events in these patients, but data on recreational exercise are lacking. We aimed to explore associations between exercise exposure and disease severity in patients with lamin A/C genotype.
Lamin A/C genotype positive patients answered a questionnaire on exercise habits from age 7 years until genetic diagnosis. We recorded exercise hours >3 metabolic equivalents and calculated cumulative lifetime exercise. Patients were grouped in active or sedate based on lifetime exercise hours above or below median. We performed echocardiography, 12‐lead ECG, Holter monitoring, and biomarkers including NT‐proBNP (N‐terminal pro‐B‐type natriuretic peptide). We defined left ventricular ejection fraction <45% as a clinically significant impairment of left ventricular function. We included 69 patients (age 42±14 years, 41% probands, 46% women) with median lifetime exercise 4160 (interquartile range 1041–6924) hours. Active patients were more frequently probands (53% versus 29%, P=0.04), had lower left ventricular ejection fraction (43±13% versus 51±11%, P=0.006), and higher NT‐proBNP (78 [interquartile range 32–219] pmol/L versus 30 [interquartile range 13–64] pmol/L, P=0.03) compared with sedate, while age did not differ (45±13 years versus 40±16 years, P=0.16). The decrease in left ventricular ejection fraction per tertile increment in lifetime exercise was 4% (95% CI −7% to −0.4%, P=0.03), adjusted for age and sex and accounting for dependence within families. Left ventricular ejection fraction <45% was observed at a younger age in active patients (log rank P=0.007).
Active lamin A/C patients had worse systolic function compared with sedate which occurred at younger age. Our findings may improve exercise recommendations in patients with lamin A/C.
subtitles Table 1.
Values are mean±SD, frequency (%), or geometric mean (interquartile range). P values are calculated by Student t‐test, Chi square test, or Fisher exact test as appropriate. BMI indicates body mass index; CK, creatinine kinase; CRT‐D, cardiac resynchronization therapy‐defibrillator; DCM, dilated cardiomyopathy; EDD, end diastolic diameter; EDV, end diastolic volume; ESV, end systolic volume; GLS, global longitudinal strain; ICD, implantable cardioverter defibrillator; LVEF, left ventricular ejection fraction; NSVT, non‐sustained ventricular tachycardia; NT‐proBNP, N‐terminal pro b‐type natriuretic peptide.
*n=43, †n=51, ‡odds for 50 increments increase.
subtitles Table 2.
Values are mean±SD, median (interquartile range). P values are calculated by Student t‐test, or Mann–Whitney U test. LVEF indicates left ventricular ejection fraction.
subtitles Table 3.
Values are mean±SD, frequency (%). P values are calculated by Student t‐test, Chi square test, or Fisher exact test as appropriate. CMR indicates cardiac magnetic resonance; EDV, end diastolic volume; ESV, end systolic volume; LGE, late gadolinium enhancement; LVEF, left ventricular ejection fraction.
*n=19.
description jah34686-sup-0001-tabless1-s3-figs1.pdf