Details

Autor(en) / Beteiligte

• Pagano, M
• Fumagalli, C
• Girolami, F
• Passantino, S
• Gozzini, A
• Brambilla, A
• Spinelli, V
• Morrone, A
• Procopio, E
• Pochiero, F
• Donati, M A
• Olivotto, I
• Favilli, S

Titel

Clinical profile and outcome of cardiomyopathies in infants and children seen at a tertiary centre

Ist Teil von

• International journal of cardiology, 2023-01, Vol.371, p.516-522

Ort / Verlag

Netherlands

Erscheinungsjahr

2023

Quelle

MEDLINE

Beschreibungen/Notizen

• Due to their rare prevalence and marked heterogeneity, pediatric cardiomyopathies (CMPs) are little known and scarcely reported. We report the etiology, clinical profile and outcome of a consecutive cohort of children diagnosed with CMP and followed at Meyer Children's Hospital over a decade. We retrospectively reviewed patients consecutively referred from May 2008 to May 2019 for pediatric onset CMP (<18 years). Heart disease caused by arrhythmic disorders, toxic agents, rheumatic conditions and maternal disease were excluded. We enrolled 110 patients (65 males), diagnosed at a median age of 27 [4-134] months; 35% had an infant onset (<1 year of age). A positive family history was more often associated with childhood-onset (38.8%). Hypertrophic cardiomyopathy (HCM; 48 patients) was the most frequent phenotype, followed by dilated cardiomyopathy (DCM; 35 patients). While metabolic and idiopathic etiologies were preponderant in infants, metabolic and sarcomeric diseases were most frequent in the childhood-onset group. Major adverse cardiac events (MACE) occurred in 31.8% of patients, including hospitalization for acute heart failure in 25.5% of patients, most commonly due to DCM. Overall, the most severe outcomes were documented in patients with metabolic diseases. In a consecutive cohort of pediatric patients with CMP, those with infantile onset and with a metabolic etiology had the worst prognosis. Overall, MACE occurred in 41% of the entire population, most commonly associated with DCM, inborn errors of metabolism and genetic syndromes. Systematic NGS genetic testing was critical for etiological diagnosis and management.