Focus on Paediatric Restrictive Cardiomyopathy: Frequently Asked Questions

Abstract

Restrictive cardiomyopathy (RCM) is characterized by restrictive ventricular pathophysiology determined by increased myocardial stiffness. While suspicion of RCM is initially raised by clinical evaluation and supported by electrocardiographic and echocardiographic findings, invasive hemodynamic evaluation is often required for diagnosis and management of patients during follow-up. RCM is commonly associated with a poor prognosis and a high incidence of heart failure, and PH is reported in paediatric patients with RCM. Currently, only a few therapies are available for specific RCM aetiologies. Early referral to centres for advanced heart failure treatment is often necessary. The aim of this review is to address questions frequently asked when facing paediatric patients with RCM, including issues related to aetiologies, clinical presentation, diagnostic process and prognosis.

Keywords: paediatric; restrictive cardiomyopathy.

Figure 4

Main aetiologies of restrictive cardiomyopathy according to the age of disease presentation.

Figure 1

Suggested flow-chart for initial approach to patient with heart failure and suspected restrictive cardiomyopathy. CXR chest X-ray, ECG electrocardiogram; MR magnetic resonance, Nt-pro-BNP N-terminal pro B type Natriuretic Peptide, RCM-restrictive cardiomyopathy.

Figure 2

A 6-year-old boy with restrictive cardiomyopathy. Electrocardiogram shows abnormal P waves suggestive of atrial enlargement and abnormal ventricular repolarization suggestive of biventricular pressure overload.

Figure 3

(A) Chest X-ray, 8-year-old boy with hypertrophic-restrictive cardiomyopathy and congestive heart failure. (B) Echocardiography apical 4-chambers view, 11-year-old girl with restrictive cardiomyopathy, normal ventricular volumes, preserved ejection fraction and severe atrial dilatation; we can appreciate the presence of an implantable cardiac defibrillator lead. (C) Echocardiography parasternal long axis view, 6-year-old boy with restrictive cardiomyopathy associated to severe left atrial dilatation.

Figure 5

Flow-chart management of paediatric restrictive cardiomyopathy). Right heart catheterization is usually indicated for all patients referred for HT. However, it is useful to stratify prognosis in patients in NYHA class I to II since severe PH and low cardiac output can develop with mild or subtle symptoms. DPG, diastolic pulmonary gradient; HT, heart transplantation; PVR, pulmonary vascular resistance; RHC, right heart catheterization; TPG, transpulmonary gradient.