title: [Heart involvement in progressive spinal muscular atrophy. A review of the literature and case histories in childhood].
abstract: There are few cardiological studies in progressive spinal muscular atrophy and mainly concern subjects affected by the juvenile form (Kugelberg-Welander disease). The presence of a cardiomyopathy has been reported in these patients but the cardiac involvement is often secondary to the chronic respiratory insufficiency typical of the disease. We performed a retrospective study in our Institute on 43 patients, age range 3 months to 3 years, 37 of which presented type I (Werdnig-Hoffmann disease) and 6 type II (intermediate form) of the disease. No clinical nor instrumental signs of cardiomyopathy were observed. However, ECG revealed signs of right ventricular overload in 37.3% of the patients, probably provoked by pulmonary hypertension due to respiration anomalies. The authors underline the importance of correct respiratory assistance to prevent onset of cardiological alterations.
authors.affiliation: Cattedra di Neonatologia e Servizio Autonomo di Cardiologia Pediatrica, Università di Catania, Italia.
authors.forename: G
authors.initials: G
authors.lastname: Distefano
authors.forename: P
authors.initials: P
authors.lastname: Sciacca
authors.forename: M G
authors.initials: MG
authors.lastname: Parisi
authors.forename: E
authors.initials: E
authors.lastname: Parano
authors.forename: P
authors.initials: P
authors.lastname: Smilari
authors.forename: M
authors.initials: M
authors.lastname: Marletta
authors.forename: A
authors.initials: A
authors.lastname: Fiumara
mesh_terms: D009202:Cardiomyopathies / Q000175:diagnosis* / Q000453:epidemiology / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004562:Electrocardiography; D006801:Humans; D007223:Infant; D007558:Italy / Q000453:epidemiology; D009134:Muscular Atrophy, Spinal / Q000150:complications / Q000175:diagnosis* / Q000453:epidemiology; D012189:Retrospective Studies; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology; D013577:Syndrome
vernacular_title: Il coinvolgimento cardiaco nell'atrofia muscolare spinale progressiva. Revisione della letteratura e contributo casistico in età pediatrica.