Establishment of a Dedicated Inherited Cardiomyopathy Clinic: From Challenges to Improved Patients’ Outcome

Abstract

Background Inherited cardiomyopathies (ICs) are relatively rare. General cardiologists have little experience in diagnosing and managing these conditions. International societies have recognized the need for dedicated IC clinics. However, only few reports on such clinics are available. Methods and Results Clinical data of patients referred to our clinic during its first 2 years for a personal or family history of (possible) IC were analyzed. A total of 207 patients from 196 families were seen; 13% of probands had their diagnosis changed. Diagnosis was most commonly altered in patients referred for possible arrhythmogenic dominant right ventricular cardiomyopathy (62.5%). A total of 90% of probands had genetic testing, of whom 27.3% harbored a likely pathogenic or pathogenic variant. Of patients with confirmed hypertrophic cardiomyopathy, 31 (28.7%) were treated for left ventricular outflow tract obstruction, including septal reduction in 13. Patients with either hypertrophic cardiomyopathy or left ventricular noncompaction and a history of atrial fibrillation were started on oral anticoagulation. Oral anticoagulation was also discussed with all patients with hypertrophic cardiomyopathy and apical aneurysm. Patients with a definite diagnosis of arrhythmogenic dominant right ventricular cardiomyopathy were started on β‐blockers and given restrictive exercise prescriptions. A total of 17 patients with hypertrophic cardiomyopathy and 5 patients with likely pathogenic or likely variants in arrhythmogenic genes received primary prevention implantable cardioverter‐defibrillators. No implantable cardioverter‐defibrillators were warranted for arrhythmogenic dominant right ventricular cardiomyopathy. A total of 76 family members from 24 families had cascade screening, 32 of whom carried the familial variant. A total of 21 members from 13 gene‐elusive families were evaluated by clinical screening, 3 of whom had positive screening. Conclusions Specialized IC clinics may improve diagnosis, management, and outcomes of patients with (possible) IC and their family members.

Keywords

• genetics
• implantable cardioverter‐defibrillators
• inherited cardiomyopathy