RASopathy-associated hypertrophic cardiomyopathy (RAS-CM) presenting with congestive heart failure I42.2 I50 I42.8 I42.1 Q87.1 Q87.8
Conditions
Interventions
Group 1: Retrospective data collection, observation group are patients with genetic diagnosis of congenital RASopathy with hypertrophic cardiomyopathy and heart failure
Sponsors
TUM Klinikum Deutsches Herzzentrum München
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Molecular genetic diagnosis of a RASopathy (i.e., a pathogenic or likely pathogenic variant in one of the RAS-MAPK pathway genes identified, irrespective of when performed); Imaging diagnosis of myocardial hypertrophy (echocardiography) showing a maximal end-diastolic wall thickness of greater than normal (z-score > 2) with or without outflow tract obstruction; Admitted to hospital between 01/01/2015 and 06/30/2019 for congestive heart failure or developing progressive congestive heart failure during any hospital stay within first 6 months of life; Ross score calculated from medical history and physical examination notes in the absence of any other reason prompting hospital admission (e.g., elective procedure, other organ dysfunction, etc.), defined by Ross score greater than 2
Exclusion criteria
Exclusion criteria: Receiving mTOR inhibitor and/or MEK inhibitors Inability to identify or retrospectively calculate the patient´s Ross score within the first six months of life
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| To define the one-year transplant-free survival rate of patients with infantile-onset RASopathy-associated hypertrophic cardiomyopathy, admitted to the hospital with congestive heart failure by 6 months of age. | — |
Secondary
| Measure | Time frame |
|---|---|
| To define the natural history, specifically concerning morbidity, of patients with infantile-onset RASopathy-associated hypertrophic cardiomyopathy, admitted to the hospital with congestive heart failure by 6 months of age. | — |
Countries
Belgium, Canada, France, Germany, Italy, Portugal, Spain, United Kingdom, United States
Contacts
Public ContactCordula Wolf
TUM Klinikum Deutsches Herzzentrum München
Outcome results
None listed