Short introduction
Knowledge on the screening of family members is rapidly increasing, although the current guidelines remain relatively diverse. The novel Study Group on Family Care of Cardiomyopathy patients aims to unite the expertise from every national university medical center concerning patient care, research and outreach involving family members. The goal is to inventory current clinical practice, data collection, knowledge gaps and translate these towards clinical guidelines, research proposals and education material.

Members

  • Chairs: Job Verdonschot (MUMC), Anneline te Riele (UMCU)
  • MUMC: Ingrid Krapels, Stephane Heymans
  • Radboud UMC: Yvonne Hoedemaekers, Robin Nijveldt
  • LUMC: Daniella Barge-Schaapveld, Sebastiaan Piers, Marianne Bootsma
  • Erasmus MC: Judith Verhagen, Michelle Michels
  • UMCG: Karin van Spaendonck-Zwarts, Moniek Cox
  • UMCU: Annette Baas, Judith Groeneweg
  • Amsterdam UMC: Eline Nannenberg, Arjan Houweling, Ahmad Amin

Description

The Study Group on Family Care of Cardiomyopathy patients aims to unite the expertise from the national university medical centers concerning patient care, research and outreach involving family members.

Patient care
Genetic testing is a first-tier test in the diagnostic work-up of a patient with a cardiomyopathy, either dilated (DCM), hypertrophic (HCM), or arrhythmogenic (ACM). Although great steps have been made towards genotype-based decision-making in the treatment of the patient, the consequences of the genetic results for their family has been less well explored. The latest guidelines from the European Society of Cardiology (ESC) recommend strict cardiac screening of all family members, irrespective of a detected genetic etiology in the family. These recommendations are mostly based on expert opinion and studies using retrospective cohort studies. Also, the exact implementation of the recommendations differ in the Netherlands. The study group aims to focus on translating the guideline towards recommendations for the situation in the Netherlands.

Research and data collection
National and international patient registries strongly rely on the inclusion of patients with overt heart disease, often not including family members of these patients. In the past years, it became evident that the development of cardiomyopathy among family members remains a large knowledge gap, and the first registries were set up to prospectively include family members. Also in the Netherlands, several centers include family members in their registries (eg. Dutch ACM registry; multicenter Cardiomyopathy (mCMP) study). The study group aims to inventory and streamline the collection of data of family members, in line with other initiatives of patient registries in the Netherlands (eg. the national CMP registry).

Innovation and prospective national studies
Family members of patients with cardiomyopathy resemble a large population in the Netherlands, who are all recommended to seek medical advice. The current screening recommendations are broad and encompass both low risk and high risk family members. With the increasing knowledge in patients with cardiomyopathy, possibilities arise to implement this knowledge towards family care to improve risk stratification and more personalized recommendations. For example, genotype-based recommendations for family screening has great innovative promise, but should be investigated prospectively. The goal of the study group is to identify knowledge gaps in the field that can be translated towards nationwide studies, which will have large scientific and clinical value.

Education and outreach
Family members often present at the general practitioner or cardiologist, frequently without specific information about the clinical and genetic information of the family. As most of the available guidelines and information is available on patient care, the latest information on family care is unknown for many health professionals. The study group will also aim to provide education on the topic for health professionals and patients.

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