Pediatric Restrictive Cardiomyopathies

Figure 1. Classification of restrictive cardiomyopathies.

Figure 2. Coexistence of HCM [father; II.3; (A–C)] and RCM [son; III.2; (D–G)] within the same family, due to a pathogenetic troponin I mutation. In the family tree, black filled symbols stand for affected carriers. Cardiac magnetic resonance shows mild septum hypertrophy with mild left atrial enlargement (A) and septal late gadolinium enhancement (B) and replacement fibrosis at optical microscopy (C). The echocardiogram (D–G) shows a pediatric RCM with severe biatrial enlargement and small left ventricular volume (D) with signs of increased filling pressures at Doppler and TDI evaluation. HCM, hypertrophic cardiomyopathy; RCM, restrictive cardiomyopathy.

Figure 3. Endomyocardial biopsy from a 18 years-old patient affected by a desmin-related restrictive cardiomyopathy, carrying a pace-maker for complete atrio-ventricular block. (A) Histologic section shows severe interstitial fibrosis and morphological myocytes' abnormalities with cellular hypertrophy and cytoplasmic vacuolization. (B,C) Transmission electron micrographs show multiple deposits of granulofilamentous material in the intermyofibrillar region.

Figure 4. ECG of a 3-year-old girl, affected by restrictive cardiomyopathy, showing biatrial enlargement and diffuse repolarization abnormalities. In the peripheral leads, please note the monstre atrial enlargement.

Figure 5. Three-year-old girl affected by restrictive cardiomyopathy. Antero-posterior chest radiograph (A) showing massive cardiomegaly due to severe biatrial enlargement, as confirmed by apical four-chamber echocardiography (B).

Figure 6. Flow-chart of management of pediatric restrictive cardiomyopathy. RHC, right heart catheterization; PVR, pulmonary vascular resistance; mPAP, mean pulmonary artery pressure; TPG, transpulmonary gradient; DPG, diastolic pulmonary gradient; HT, heart transplantation. aRHC is usually indicated for all patients referred for heart transplantation. RHC in addition, may help to stratify prognosis in patients in NYHA class I to II: severe pulmonary hypertension and low cardiac output can develop even in absence of symptoms, leading to late referral for heart transplantation. When at least one of the prognostic indicators for RCM is present, it may be advisable to refer the patient to a tertiary center for HT evaluation. bPoor prognostic markers are: pulmonary congestion, myocardial ischemia, severe left atrial dilation, male gender, reduction of left ventricular fractional shortening, increased left ventricular walls thickness.

Figure 7. Left ventricular (LV) and right ventricular (RV) hemodynamic pressure tracings in a 3-year-old girl affected by restrictive cardiomyopathy. End-diastolic filling pressures are elevated, with LV values higher than those in RV, and a “square root” sign is present on both tracings (red arrow).