What question did this study set out to answer?

To determine whether dystrophin gene defects account for a significant proportion of cases presenting with apparently isolated idiopathic dilated cardiomyopathy.

November 1, 1993Journal of Medical GeneticsOpen Access

Dystrophin analysis in idiopathic dilated cardiomyopathy.

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Why the study?

Do dystrophin gene defects account for a significant number of patients with apparently isolated idiopathic DCM?

Population

27 patients with apparently isolated idiopathic dilated cardiomyopathy (DCM), average age 50 years.

Design

Cohort

Authors

VMVirginia V. MichelsFox Chase Cancer Center GPGregory M. PastoresUniversity College Dublin PMPatricia P. MollFox Chase Cancer Center

Discussion

Member takes

Implication

Dystrophin defects appear uncommon in isolated idiopathic DCM without muscle symptoms; leaves open their role in larger or younger cohorts.

Key Points

To determine whether dystrophin gene defects account for a significant proportion of cases presenting with apparently isolated idiopathic dilated cardiomyopathy.
Conducted dystrophin gene analysis in N=27 patients ascertained through a prospective study on idiopathic dilated cardiomyopathy.
Evaluated patients presenting without skeletal muscle cramps or weakness, with an average cohort age of 50 years.
Identified no dystrophin gene defects across the 27 evaluated patients.
Demonstrated that dystrophin abnormalities are not a common underlying cause of idiopathic dilated cardiomyopathy in middle-aged patients lacking overt skeletal muscle disease.

Structured PICO

Do dystrophin gene defects account for a significant number of patients with apparently isolated idiopathic DCM?

Population

27 patients with apparently isolated idiopathic dilated cardiomyopathy (DCM), average age 50 years.

Intervention

Dystrophin gene analysis

Outcome

Presence of dystrophin gene defectssurrogate

Dystrophin gene defects are not a common cause of isolated idiopathic dilated cardiomyopathy in middle-aged patients without skeletal muscle symptoms.

Cite This Study

Michels et al. (1993) studied this question.

synapsesocial.com/papers/6a7228dd22b3175134db6ffa https://doi.org/10.1136/jmg.30.11.955

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Implication

Dystrophin defects appear uncommon in isolated idiopathic DCM without muscle symptoms; leaves open their role in larger or younger cohorts.

Dystrophin analysis in idiopathic dilated cardiomyopathy.

Discussion

Member takes

Implication

Key Points

Structured PICO

Cite This Study

Dystrophin analysis in idiopathic dilated cardiomyopathy.

Discussion

Member takes

Implication

Key Points

Structured PICO

Cite This Study

Also Consider

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