Document Detail

Cardiac involvement in patients with spinal muscular atrophies.
MedLine Citation:
PMID:  22616198     Owner:  NLM     Status:  MEDLINE    
The spinal muscular atrophies (SMAs) include a group of disorders characterized by progressive weakness of the lower motor neurons. Several types of SMAs have been described based on age onset of clinical features: Acute infantile (SMA type I), chronic infantile (SMA type II), chronic juvenile (SMA type III), and adult onset (SMA type IV) forms. The incidence is about 1:6,000 live births with a carrier frequency of 1:40 for the severe form and 1:80 for the juvenile form. The mortality and/or morbidity rates of SMAs are inversely correlated with the age at onset. SMAs are believed to only affect skeletal muscles; however, new data on SMA mice models suggest they may also impact the heart. Aim of the study was to retrospectively examine the cardiological records of 37 type molecularly confirmed II/III SMA patients, aged 6 to 65 years, in order to evaluate the onset and evolution of the cardiac involvement in these disorders. All patients had a standard ECG and a routine echocardiography. The parameters analysed were the following: Heart rate (HR), PQ interval, PQ segment, Cardiomyopathic Index (ratio QT/PQs), ventricular and supraventricular ectopic beats, pauses > or = 2,5 msec, ventricle diameters, wall and septum thickness, ejection fraction, fiber shortening. The results showed that HR and the other ECG parameters were within the normal limits except for the Cardiomyopathic Index that was higher than the normal values (2,6-4,2) in 2 patients. Left ventricular systolic function was within the normal limits in all patients. A dilation of the left ventricle without systolic dysfunction was observed in only 2 patients, aged respectively 65 and 63 years; however they were hypertensive and/or affected by coronary artery disease. Data here reported contribute to reassure patients and their clinicians that type II/III SMAs do not present heart dysfunction.
Alberto Palladino; Luigia Passamano; Antonella Taglia; Paola D'Ambrosio; Marianna Scutifero; Maria Rosaria Cecio; Esther Picillo; Emanuela Viggiano; Vito Torre; Francesco De Luca; Giovanni Nigro; Luisa Politano
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases     Volume:  30     ISSN:  1128-2460     ISO Abbreviation:  Acta Myol     Publication Date:  2011 Dec 
Date Detail:
Created Date:  2012-05-23     Completed Date:  2012-08-14     Revised Date:  2013-06-24    
Medline Journal Info:
Nlm Unique ID:  9811169     Medline TA:  Acta Myol     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  175-8     Citation Subset:  IM    
Cardiomyology and Medical Genetics, Department of Experimental Medicine, Second University of Naples, Italy.
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MeSH Terms
Age Factors
Cardiomyopathies / diagnosis*,  etiology*,  physiopathology
Heart Rate / physiology
Middle Aged
Muscular Atrophy, Spinal / complications*,  physiopathology,  ultrasonography
Retrospective Studies
Risk Factors
Ventricular Function, Left / physiology
Young Adult

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