Insights from Cardiopulmonary Exercise Testing in Pediatric Patients with Hypertrophic Cardiomyopathy.

Damiano Magrì,Antonello Maruotti,Fabio Valente,Giulio Calcagni,Giuseppe Limongelli,Giovanna Gallo,Vittoria Mastromarino,Rachele Adorisio,Maria Beatrice Musumeci,Marta Rubino,Luca Ragni,Camillo Autore

doi:10.3390/biom11030376

Abstract

The usefulness of cardiopulmonary exercise test (CPET) in adult hypertrophic cardiomyopathy (HCM) patients is well-known, whereas its role in pediatric HCM patients has not yet been explored. The present study investigates possible insights from a CPET assessment in a cohort of pediatric HCM outpatients in terms of functional and prognostic assessment. Sixty consecutive pediatric HCM outpatients aged <18 years old were enrolled, each of them undergoing a full clinical assessment including a CPET; a group of 60 healthy subjects served as controls. A unique composite end-point of heart failure (HF) related and sudden cardiac death (SCD) or SCD-equivalent events was also explored. During a median follow-up of 53 months (25th–75th: 13–84 months), a total of 13 HF- and 7 SCD-related first events were collected. Compared to controls, HCM patients showed an impaired functional capacity with most of them showing peak oxygen uptake (pVO2) values of <80% of the predicted, clearly discrepant with functional New York Heart Association class assessment. The composite end-point occurred more frequently in patients with the worst CPETs’ profiles. At the univariate analysis, pVO2% was the variable with the strongest association with adverse events at follow-up (C-index = 0.72, p = 0.025) and a cut-off value equal to 60% was the most accurate in identifying those patients at the highest risk. In a pediatric HCM subset, the CPET assessment allows a true functional capacity estimation and it might be helpful in identifying early those patients at high risk of events.

Highlights

This article is an open access articleHypertrophic cardiomyopathy (HCM), the most common genetic heart disease, inherited with an autosomal dominant pattern, incomplete penetrance, and variable expressivity, is characterized by extremely varied phenotypic expression ranging from asymptomatic to heart failure (HF) to sudden cardiac death (SCD) [1]
Growing evidence suggests that a full cardiopulmonary exercise test (CPET) assessment, in combination with other clinical and instrumental variables, is able to stratify both the SCD and the HF risk in adult cohort of hypertrophic cardiomyopathy (HCM) patients [10,11,12,13,14,15]
The population mainly consisted of male patients (n = 44 patients, 73%) in New York Heart Association (NYHA)

Summary

Introduction

This article is an open access articleHypertrophic cardiomyopathy (HCM), the most common genetic heart disease, inherited with an autosomal dominant pattern, incomplete penetrance, and variable expressivity, is characterized by extremely varied phenotypic expression ranging from asymptomatic to heart failure (HF) to sudden cardiac death (SCD) [1]. Biomolecules 2021, 11, 376 recommendations on pharmacological and non-pharmacological treatment (i.e., drugs, implantable cardioverter defibrillator, ICD, septal reduction procedures, inclusion in cardiac transplantation list, etc.), are often disregarded or too much postponed in this setting most likely because of possible detrimental effects of some strategies on patients’ quality of life (i.e., drugs’ side effects, ICDs inappropriate shocks or failure, depression, etc.) [3,4,5,6] Another reason underlying this conservative approach is undoubtedly the highly variable risk perception among physicians due to the lack of strong evidence-based risk prediction models in childhood HCM [7].

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