Diagnosis and Management of Rare Cardiomyopathies in Adult and Paediatric Patients. A Position Paper of the Italian Society of Cardiology (SIC) and Italian Society of Paediatric Cardiology (SICP)
Why the study?
The multisystemic and heterogeneous presentation of rare cardiomyopathies poses clinical challenges and diagnostic delays, requiring tailored investigation and practical recommendations for early treatment and counselling.
Population
Adult and paediatric patients with rare cardiomyopathies
Design
Position paper with recommendations developed using a modified Delphi method
Authors
Discussion
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Implication
Rare CMP phenocopies merit specific labeling and tailored multidisciplinary evaluation; leaves open standardized protocols pending prospective data.
Key Points
- Rare cardiomyopathies display distinct echocardiographic phenotypes that mimic classical forms, requiring standardized and specific clinical categorization across age groups.
- A modified Delphi method established expert consensus on practical diagnostic and management pathways, addressing complex and multisystemic disease presentations.
- Highlights the necessity of prompt identification for rare myocardial diseases to prevent diagnostic delays, supporting early tailored treatment and counselling.
Structured PICO
P
Population
Adult and paediatric patients with rare cardiomyopathies
I
Intervention
Practical recommendations for diagnosis and management
This position paper provides expert consensus recommendations to guide clinicians in the timely diagnosis and tailored management of rare cardiomyopathies across all age groups.
Cite This Study
Limongelli et al. (2022) conducted a review in Rare Cardiomyopathies. Practical recommendations for diagnosis and management was evaluated. A modified Delphi method was used to define practical recommendations for the diagnosis and management of rare cardiomyopathies in paediatric and adult patients.