Poor Prognosis of Rare Sarcomeric Gene Variants in Patients with Dilated Cardiomyopathy
Key result
Rare sarcomeric gene variants in dilated cardiomyopathy were associated with decreased survival-free from death or heart transplant after 50 years of age compared to noncarriers (p=0.026).
Why the study?
Does the presence of rare sarcomeric gene variants worsen long-term survival-free from death or heart transplant in patients with dilated cardiomyopathy?
Population
85 subjects from 25 families with dilated cardiomyopathy enrolled in a Familial Cardiomyopathy Registry
Comparison
Presence of rare sarcomeric gene variants vs Noncarriers of rare sarcomeric gene variants
Design
Cohort
Authors
Discussion
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Implication
May support sarcomeric variant-informed prognosis in DCM after age 50; leaves open prospective validation and management impact.
Study Design
Type
Cohort (n=85)
Structured PICO
Does the presence of rare sarcomeric gene variants worsen long-term survival-free from death or heart transplant in patients with dilated cardiomyopathy?
P
Population
85 subjects from 25 families with dilated cardiomyopathy, including 52 carriers of rare sarcomeric gene variants and 33 noncarriers, evaluated for long-term survival.
E
Exposure
Presence of rare sarcomeric gene variants (MYH6, MYH7, MYBPC3, TNNT2, TTN)
C
Comparator
Noncarriers of rare sarcomeric gene variants
O
Outcome
Long-term survival-free from death or heart transplanthard clinical
Main Result
p-value: p=0.322
Rare sarcomeric gene variants in dilated cardiomyopathy are associated with a poorer prognosis and higher risk of death or heart transplant after age 50, supporting the use of genetic testing for risk stratification.
Cite This Study
Merlo et al. (2013) conducted a cohort in Dilated cardiomyopathy (n=85). Rare sarcomeric gene variants vs. Noncarriers was evaluated on Long-term survival-free from death or heart transplant (p=0.322). Rare sarcomeric gene variants in dilated cardiomyopathy were associated with decreased survival-free from death or heart transplant after 50 years of age compared to noncarriers (p=0.026).