Restrictive Cardiomyopathy (RCM)

Introduction

Restrictive cardiomyopathy (RCM) is a rare form of cardiomyopathy characterized by stiffness of the heart muscle, leading to impaired ventricular filling while systolic function is typically preserved. This results in heart failure with preserved ejection fraction (HFpEF).

Causes

RCM can be caused by various conditions, most notably: - Infiltrative diseases (e.g., amyloidosis, sarcoidosis) - Genetic mutations affecting the heart’s structural proteins - Fibrotic diseases causing myocardial stiffening - Endomyocardial fibrosis

Symptoms

  • Shortness of breath (Dyspnea)
  • Fatigue
  • Edema (fluid retention)
  • Jugular venous distension (JVD)
  • Exercise intolerance

Diagnosis

  • Echocardiography – to assess diastolic dysfunction
  • Cardiac MRI – to identify fibrosis or infiltration
  • Endomyocardial biopsy – may be required in cases of suspected infiltrative diseases
  • Genetic testing – when a hereditary cause is suspected

Treatment

There is no specific cure for RCM, but treatment aims to manage symptoms: - Diuretics – reduce congestion and edema - Beta-blockers and calcium channel blockers – to help control heart rate - Anticoagulants – in cases with atrial fibrillation - Heart transplant – in severe cases

Prognosis

Prognosis varies depending on the underlying cause. Amyloidosis-related RCM often has a poorer prognosis, whereas some genetic forms may be more manageable if diagnosed early.

Conclusion

RCM is a serious condition that requires early diagnosis and careful management. A multidisciplinary approach, including cardiologists, geneticists, and sometimes transplant teams, can offer patients the best possible outcomes.

Source recommendations

1. American Heart Association Guidelines on Cardiomyopathies

  1. https://www.heart.org/en/health-topics/cardiomyopathy
  2. https://www.ahajournals.org/doi/10.1161/CIR.0000000000001250
  3. https://www.heart.org/en/health-topics/cardiomyopathy/what-is-cardiomyopathy-in-adults/hypertrophic-cardiomyopathy
  4. https://www.ahajournals.org/doi/10.1161/CIR.0000000000000937
  5. https://professional.heart.org/en/education/hypertrophic-cardiomyopathy-for-professionals

2. European Society of Cardiology Guidelines on Cardiomyopathies

  1. https://www.escardio.org/Guidelines/Clinical-Practice-Guidelines/Cardiomyopathy-Guidelines
  2. https://academic.oup.com/eurheartj/article/44/37/3503/7246608
  3. https://pubmed.ncbi.nlm.nih.gov/37622657/
  4. https://www.acc.org/Latest-in-Cardiology/ten-points-to-remember/2023/08/30/02/53/2023-esc-guidelines-for-cardiomyopathies-esc-2023
  5. https://pubmed.ncbi.nlm.nih.gov/25173338/

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