Abstract
We present a 75-year-old female, Ms. W, with systemic scleroderma and Hypertrophic Cardiomyopathy (HCM) who was evaluated for one-year history of swelling in her ankles and feet. Cardiac auscultation revealed a left lower sternal border ejection systolic murmur that increased with Valsalva maneuver. ECG was consistent with Left Ventricular (LV) hypertrophy whereas transthoracic echocardiogram and cardiac MRI revealed increased LV wall thickness with asymmetric involvement of the apex and circumferential pericardial effusion. Although genetic mutations of cardiomyocyte sarcomeric proteins have been implicated in HCM, screening in several HCM cohorts have failed to identify genetic mutations in a substantial proportion of cases. A predisposition for HCM with certain human leukocyte antigen subtypes has been reported. In addition, an increased prevalence of HCM has been reported in chronic hepatitis C virus infection, a disease with multiple extra-hepatic autoimmune manifestations. Thus the occurrence of HCM in patients with autoimmune diseases such as systemic scleroderma may indicate potential autoimmune mechanism. Studies testing the hypothesis that autoimmune mechanisms are involved in producing the HCM phenotype, at least in patients with no identifiable genetic mutation affecting sarcomeric proteins, are needed.
Highlights
Autoimmune diseases including scleroderma can lead to cardiovascular involvement due to chronic inflammation and fibrosis affecting the pericardium, myocardium and conduction tissue
Mutations in genes coding sarcomeric, calcium handling and mitochondrial proteins have been implicated in Hypertrophic Cardiomyopathy (HCM), screening in several HCM cohorts have failed to identify genetic mutations in 4075% of cases [3,4,5,6,7]
Lack of an identifiable genetic mutation is associated with the apical variant of HCM and lack of family history of HCM [3,5,7]
Summary
Autoimmune diseases including scleroderma can lead to cardiovascular involvement due to chronic inflammation and fibrosis affecting the pericardium, myocardium and conduction tissue. We report a 75-year-old female, Ms W, who presented with systemic scleroderma associated with Raynaud’s disease, esophageal strictures, positive centromere antibodies and depressed complement 4 levels. She did not have a family history of autoimmune disease, HCM or sudden cardiac arrest.
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