Actively Recruiting

Age: 18Years - 70Years
All Genders
NCT06400524

Assessment of Cardiac Function, Microvascular Function and Cardiac Perfusion in Different Disease Stages of Hypertrophic Cardiomyopathy

Led by Amsterdam UMC, location VUmc · Updated on 2024-05-06

100

Participants Needed

1

Research Sites

104 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

Hypertrophic cardiomyopathy (HCM) is a genetic disorder characterized by asymmetric hypertrophy of the heart in absence of loading conditions like hypertension. The genetic mutation underlying HCM sets in motion a cascade of functional and metabolic changes ultimately leading to disease. HCM patients often have microvascular dysfunction and myocardial perfusion deficits, of which the aetiology has not been elucidated. Whether these changes are secondary to remodelling or primarily caused by endothelial dysfunction is unclear. As the pathomechanism of HCM is thought to be a cascade of changes, it is important to gain more insight in the perfusion and endothelial function changes throughout different stages of disease: no phenotype, mild phenotype, and advanced HCM phenotype. In this study we aim to investigate these changes in the two most common genetic mutations.

CONDITIONS

Official Title

Assessment of Cardiac Function, Microvascular Function and Cardiac Perfusion in Different Disease Stages of Hypertrophic Cardiomyopathy

Who Can Participate

Age: 18Years - 70Years
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Must be a MYBPC3 or MYH7 mutation carrier, or a genotype-negative first-degree relative of such a carrier
  • Mutation carriers must be 18 years or older
  • Genotype-negative relatives must be 30 years or older
  • Mutation carriers will be classified into groups based on maximum heart wall thickness: no phenotype (less than 12 mm), mild phenotype (12 to less than 15 mm), or HCM phenotype (15 mm or more)
Not Eligible

You will not qualify if you...

  • Age over 70 years
  • Insulin-dependent diabetes mellitus
  • Pregnancy
  • Smoking
  • Claustrophobia
  • Having a pacemaker or implantable cardioverter-defibrillator (ICD)
  • Renal insufficiency with glomerular filtration rate below 30
  • Hypertension with systolic blood pressure over 140 mmHg or diastolic over 90 mmHg
  • Use of blood pressure medication for genotype-negative, no phenotype, and mild phenotype groups
  • For HCM phenotype group, inability to safely stop blood pressure medication for two days
  • Left ventricular outflow tract gradient over 50 mmHg
  • Aortic valve disease
  • Left bundle branch block
  • History of obstructive coronary artery disease
  • Chronic atrial fibrillation
  • Hormone replacement therapy
  • Second or third-degree AV-block, sick sinus syndrome, or prolonged QT interval
  • Asthma or other obstructive lung diseases
  • Previous adverse reaction to adenosine or dotarem

AI-Screening

AI-Powered Screening

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Trial Site Locations

Total: 1 location

1

Amsterdam UMC - location VUmc

Amsterdam, North Holland, Netherlands, 1081HV

Actively Recruiting

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Research Team

J

Julia E Visch, MD

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

4

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Assessment of Cardiac Function, Microvascular Function and Cardiac Perfusion in Different Disease Stages of Hypertrophic Cardiomyopathy | DecenTrialz