Related Experiment Video
Updated: Dec 27, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
[A practical approach to the diagnosis of cardiomyopathy: a roadmap from the phenotype]
Samuela Carigi1, Simone Longhi2, Francesca Marzo3
1U.O. Cardiologia, Ospedale di Rimini, AUSL della Romagna.
Insights
Diagnosing cardiomyopathies requires integrating symptoms and test results. This review offers a step-by-step guide for cardiologists to improve cardiomyopathy diagnosis, therapy, and follow-up.
Area of Science:
- Cardiology
- Internal Medicine
Background:
- Cardiomyopathies present diagnostic and therapeutic challenges.
- Accurate diagnosis relies on integrating clinical symptoms and instrumental exam findings.
Purpose of the Study:
- To provide a structured, step-by-step approach for diagnosing and managing cardiomyopathies.
- To assist cardiologists, particularly those not specializing in cardiomyopathies, in diagnosis, therapy, and follow-up.
Main Methods:
- Review of diagnostic strategies for cardiomyopathies.
- Emphasis on identifying "red flags" (pathognomonic features) for specific etiologies.
- Integration of clinical evaluation, instrumental exams, and multidisciplinary consultation.
Main Results:
- A systematic approach aids in clarifying cardiomyopathy diagnosis and etiology.
- Identification of key features guides the selection of diagnostic tests and therapeutic interventions.
- Multispecialty consultation enhances the understanding of extracardiac signs and symptoms.
Conclusions:
- A structured diagnostic and therapeutic pathway improves patient care for cardiomyopathies.
- Collaboration with specialists is crucial for comprehensive management.
- This approach empowers general cardiologists to effectively manage cardiomyopathy cases.
Abstract:
Cardiomyopathies are a heterogeneous group of cardiac diseases for which diagnosis and treatment are not always simple. The diagnosis of cardiomyopathy, in particular the etiology, comes from an integration between symptoms and results collected by several instrumental exams. The brain storming for the diagnosis includes also the identification of the "red flags", i.e. the pathognomonic features for each etiology that can drive the choice of appropriate diagnostic tests and therapy. In this review, we provide a step by step approach in order to help cardiologists, not specifically dedicated to cardiomyopathies, to draw the diagnosis, therapy and follow-up. This approach will be accompanied by the consultation of other specialists to discuss together the results of the exams performed and to deepen extracardiac signs and symptoms.
More Related Videos
12:12Echocardiographic Approaches and Protocols for Comprehensive Phenotypic Characterization of Valvular Heart Disease in Mice
Published on: February 14, 2017
07:15Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Related Concept Videos
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Cardiomyopathy I: Introduction and Classification
Cardiomyopathy V: Interprofessional Care
Myocarditis II: Clinical Features and Diagnostic Tests
Cardiomyopathy IV: Restrictive Cardiomyopathy
Cardiomyopathy II: Dilated Cardiomyopathy