Scholarlink

Background <p>Cardiac involvement is increasingly recognized in women carrying pathogenic variants in the dystrophin (<i>DMD)</i> gene, both Duchenne and Becker-associated, but the long-term natural history of cardiac structure, function, and conduction abnormalities in this group is not well understood. We conducted a prospective 7-year follow-up study to investigate the evolution of ventricular function, myocardial fibrosis, and arrhythmias.</p> Methods <p>34 women with confirmed pathogenic <i>DMD</i> gene variants (19 predicted to cause Duchenne muscular dystrophy and 15 Becker muscular dystrophy) underwent assessments after a mean of 7&#xa0;years. Evaluations included cardiac magnetic resonance imaging with late gadolinium enhancement, 24-h Holter monitoring, 12-lead electrocardiography (ECG), cardiac biomarkers, and clinical examinations.</p> Results <p>At the group level, left ventricular ejection fraction (LVEF) remained stable over follow-up (<i>p</i> = 0.403). Six women had a ≥ 5% change in LVEF: three improved with treatment, and three declined by 5–8%. Fibrosis was present in 9 women at both baseline and follow-up; 3 showed visual progression, and no new cases were identified. Although the median ventricular premature contractions per hour (VPC/h) increased from 0.23/h to 6.38/h (<i>p</i> &lt; 0.001), this increase is likely not clinically meaningful as age-related increases in ventricular ectopy are also seen in healthy populations, and high-burden arrhythmias—according to prespecified thresholds—remained uncommon.</p> <p>ECG parameters remained stable (PR, QRS, and QTc unchanged), with no new bundle-branch blocks or high-grade atrioventricular block detected. No association was observed between LVEF, VPC/h, and supraventricular premature contraction per hour over the 7-year follow-up period.</p> Conclusions <p>Over 7&#xa0;years, women carrying pathogenic <i>DMD</i> gene variants have very little or no progression of cardiac findings (LVEF, fibrosis, and arrhythmias). Given these findings, frequent routine rhythm monitoring is not indicated. Follow-up should be risk-stratified: closer for women with symptoms, baseline high-burden ectopy, reduced LVEF, or pre-existing fibrosis; others can be reviewed at extended intervals.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Natural history of cardiac involvement in women carrying pathogenic DMD gene variants: a 7-year longitudinal study

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年5月20日

查看全文
  • Zhe Lyu,
  • Heini Joensen,
  • Nanna Scharff Poulsen,
  • Maria Buhl Hjortrup,
  • Anna Slipsager,
  • Bjørk Teitsdóttir,
  • Freja Fornander,
  • Tuva Åsatun Solheim,
  • Adam Espe Hansen,
  • Niels Grove Vejlstrup,
  • John Vissing

摘要

Background

Cardiac involvement is increasingly recognized in women carrying pathogenic variants in the dystrophin (DMD) gene, both Duchenne and Becker-associated, but the long-term natural history of cardiac structure, function, and conduction abnormalities in this group is not well understood. We conducted a prospective 7-year follow-up study to investigate the evolution of ventricular function, myocardial fibrosis, and arrhythmias.

Methods

34 women with confirmed pathogenic DMD gene variants (19 predicted to cause Duchenne muscular dystrophy and 15 Becker muscular dystrophy) underwent assessments after a mean of 7 years. Evaluations included cardiac magnetic resonance imaging with late gadolinium enhancement, 24-h Holter monitoring, 12-lead electrocardiography (ECG), cardiac biomarkers, and clinical examinations.

Results

At the group level, left ventricular ejection fraction (LVEF) remained stable over follow-up (p = 0.403). Six women had a ≥ 5% change in LVEF: three improved with treatment, and three declined by 5–8%. Fibrosis was present in 9 women at both baseline and follow-up; 3 showed visual progression, and no new cases were identified. Although the median ventricular premature contractions per hour (VPC/h) increased from 0.23/h to 6.38/h (p < 0.001), this increase is likely not clinically meaningful as age-related increases in ventricular ectopy are also seen in healthy populations, and high-burden arrhythmias—according to prespecified thresholds—remained uncommon.

ECG parameters remained stable (PR, QRS, and QTc unchanged), with no new bundle-branch blocks or high-grade atrioventricular block detected. No association was observed between LVEF, VPC/h, and supraventricular premature contraction per hour over the 7-year follow-up period.

Conclusions

Over 7 years, women carrying pathogenic DMD gene variants have very little or no progression of cardiac findings (LVEF, fibrosis, and arrhythmias). Given these findings, frequent routine rhythm monitoring is not indicated. Follow-up should be risk-stratified: closer for women with symptoms, baseline high-burden ectopy, reduced LVEF, or pre-existing fibrosis; others can be reviewed at extended intervals.