Dilated cardiomyopathy: from epidemiologic to genetic phenotypes: A translational review of current literature

TY - JOUR

T1 - Dilated cardiomyopathy: from epidemiologic to genetic phenotypes: A translational review of current literature

AU - Reichart, D

AU - Magnussen, C

AU - Zeller, T

AU - Blankenberg, S

N1 - © 2019 The Association for the Publication of the Journal of Internal Medicine.

PY - 2019/10

Y1 - 2019/10

N2 - Dilated cardiomyopathy (DCM) is characterized by left ventricular dilatation and, consecutively, contractile dysfunction. The causes of DCM are heterogeneous. DCM often results from myocarditis, exposure to alcohol, drugs or other toxins and metabolic or endocrine disturbances. In about 35% of patients, genetic mutations can be identified that usually involve genes responsible for cytoskeletal, sarcomere and nuclear envelope proteins. Due to its heterogeneity, a detailed diagnostic work-up is necessary to identify the specific underlying cause and exclude other conditions with phenotype overlap. Patients with DCM show typical systolic heart failure symptoms, but, with progress of the disease, diastolic dysfunction is present as well. Depending on the underlying pathology, DCM patients also become apparent through arrhythmias, thromboembolic events or cardiogenic shock. Disease progression and prognosis are mostly driven by disease severity and reverse remodelling within the heart. The worst prognosis is seen in patients with lowest ejection fractions or severe diastolic dysfunction, leading to terminal heart failure with subsequent need for left ventricular assist device implantation or heart transplantation. Guideline-based heart failure medication and device therapy reduces the frequency of heart failure hospitalizations and improves survival.

AB - Dilated cardiomyopathy (DCM) is characterized by left ventricular dilatation and, consecutively, contractile dysfunction. The causes of DCM are heterogeneous. DCM often results from myocarditis, exposure to alcohol, drugs or other toxins and metabolic or endocrine disturbances. In about 35% of patients, genetic mutations can be identified that usually involve genes responsible for cytoskeletal, sarcomere and nuclear envelope proteins. Due to its heterogeneity, a detailed diagnostic work-up is necessary to identify the specific underlying cause and exclude other conditions with phenotype overlap. Patients with DCM show typical systolic heart failure symptoms, but, with progress of the disease, diastolic dysfunction is present as well. Depending on the underlying pathology, DCM patients also become apparent through arrhythmias, thromboembolic events or cardiogenic shock. Disease progression and prognosis are mostly driven by disease severity and reverse remodelling within the heart. The worst prognosis is seen in patients with lowest ejection fractions or severe diastolic dysfunction, leading to terminal heart failure with subsequent need for left ventricular assist device implantation or heart transplantation. Guideline-based heart failure medication and device therapy reduces the frequency of heart failure hospitalizations and improves survival.

KW - Age of Onset

KW - Cardiomyopathy, Dilated/epidemiology

KW - Diagnosis, Differential

KW - Disease Progression

KW - Heart Function Tests

KW - Humans

KW - Incidence

KW - Mutation

KW - Phenotype

KW - Prevalence

KW - Prognosis

KW - Risk Factors

U2 - 10.1111/joim.12944

DO - 10.1111/joim.12944

M3 - SCORING: Review article

C2 - 31132311

VL - 286

SP - 362

EP - 372

JO - J INTERN MED

JF - J INTERN MED

SN - 0954-6820

IS - 4

ER -