Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Intrinsic mitral valve alterations in hypertrophic cardiomyopathy sarcomere mutation carriers

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Partial Oral Therapy for Osteomyelitis and Endocarditis. Reply

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Duration of Heart Failure and Effect of Defibrillator Implantation in Patients With Nonischemic Systolic Heart Failure

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. In-hospital metabolite changes in infective endocarditis-a longitudinal 1H NMR-based study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. Repeatability and Reproducibility of Neonatal Echocardiography: The Copenhagen Baby Heart Study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

Aims: Mitral valve (MV) abnormalities are recognized features of hypertrophic cardiomyopathy (HCM), and there is preliminary evidence suggesting they are intrinsic phenotypic manifestations of sarcomere mutations, present in mutation carriers without left ventricular (LV) hypertrophy (subclinical HCM). However, further study is required to characterize the nature of these changes and their functional impact. Thus, we performed comprehensive echocardiographic analysis of MV structure and function on a genotyped population.

Methods and results: MV and papillary muscle echocardiographic parameters were measured in 192 genotyped individuals, including 50 overt HCM, 79 subclinical HCM, and 63 mutation-negative, healthy relatives as normal controls. Compared to controls, subclinical HCM subjects had elongated anterior MV leaflets relative to LV end-diastolic volume index (0.57 ± 0.02 vs. 0.51 ± 0.02 mm/mL/m2, P = 0.013) and anteriorly displaced papillary muscles [decreased papillary-septal separation (31.1 ± 0.7 vs. 34.2 ± 0.9 mm, P = 0.004) and relative antero-posterior position ratio of the papillary muscles (0.67 ± 0.01 vs. 0.71 ± 0.01, P = 0.011]. Similar findings were identified comparing overt HCM to controls. These MV changes were associated with an increased prevalence of systolic anterior motion (SAM) of the MV amongst subclinical HCM subjects.

Conclusions: Sarcomere mutations are associated with primary abnormalities of the MV apparatus, specifically excess anterior leaflet length relative to LV cavity size and anterior displacement of the papillary muscles; both features predisposing to SAM. These abnormalities appear to be early phenotypic consequences of sarcomere mutations, observed in mutation carriers with normal LV wall thickness.

OriginalsprogEngelsk
TidsskriftEuropean heart journal cardiovascular Imaging
Vol/bind19
Udgave nummer10
Sider (fra-til)1109-1116
Antal sider8
ISSN1525-2167
DOI
StatusUdgivet - 1 okt. 2018

ID: 56230267