Hypertrophic cardiomyopathy (HCM) is a genetically heterogeneous cardiac muscle disorder with a diverse natural history, characterized by unexplained left ventricular hypertrophy (LVH), with histopathological hallmarks including myocyte enlargement, myocyte disarray and myocardial fibrosis. Although these features can cause significant cardiac symptoms, many young individuals with HCM are asymptomatic or mildly symptomatic. Sudden cardiac death (SCD) may occur as the initial clinical manifestation. Over the past few decades, HCM has been considered a disease of sarcomere, and typically as an autosomal dominant disease with variable expressivity and incomplete penetrance. Important insights into the genetic landscape of HCM have enhanced our understanding of the molecular pathogenesis, empowered gene-based diagnostic testing to identify at-risk individuals, and offered potential targets for the development of therapeutic agents. This article reviews the current knowledge on the clinical genetics and management of HCM.
Purpose:
Cytomegalovirus (CMV) disease (specific organ involvement) is a significant cause of morbidity and mortality in orthotopic heart transplantation (OHT). CMV disease is reported to increase the development of cardiac allograft vasculopathy (CAV). The duration of CMV prophylaxis in recipients is dependent on their CMV serostatus in relation to the donors. However, the effective duration of CMV prophylaxis post-transplant remains unclear.
Methods:
Between 2007 and 2012, 267 OHT patients were divided into four groups based on the CMV serostatus of the donors (D) and recipients (R): D+/R-, D+/R+, D-/R+, D-/R-. CMV prophylaxis was given for up to one year in D+/R- patients, up to six months in D+/R+ and D-/R+ patients, and three months in D-/R-. Endpoints included two-year overall survival and freedom from development of CMV disease, CAV, and NF-MACE (defined as myocardial infarction¼..) after the end of CMV prophylaxis in the four study groups, respectively.
Results:
After the end of respective CMV prophylaxis in the four study groups, there was no significant difference in two-year overall survival and freedom from development of CMV disease, CAV, and NF-MACE among the four groups. Of the D+/R- group, one patient developed CMV gastritis, one patient CMV pneumonia, and one patient CMV colitis. Two patients developed CMV colitis in the D+/R+ group.
Conclusions:
The current recommendations for the duration of CMV prophylaxis appear to be satisfactory in preventing CMV disease and complications after the end of prophylaxis.
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