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This study reports a family affected by a new phenotype associated with dilated cardiomyopathy and quadriceps myopathy. 1 Methods: 29 family members underwent a physical and neurological examination, including an electromyogram and biopsy of muscle abnormalities. A cardiac examination was performed in all subjects. 2 Results: The family pedigree (n=72) demonstrated that transmission was autosomal dominant. Eleven subjects had cardiac involvement, only four had quadriceps muscle involvement. Cardiac impairment preceded neurological involvement. The mean age for neurological involvement was 44±0.8 years (range 43–45) and cardiac involvement was 37±7.9 years (range: 24–45). Cardiac involvement consisted of: hypokinetic dilated cardiomyopathy (64%); atrial fibrillation (100%); ventricular arrhythmias (64%); impaired conduction with bundle branch or complete atrio ventricular block (73%). Four patients required pacemakers and anti arrhythmic therapies. Four patients died: two of refractory heart failure and two of sudden death; two patients were resuscitated following cardiac arrest. Three patients required a prophylactic implantable cardiac defibrillator (ICD). Muscle morphological abnormalities were characterized by a variable number of fibers with rimmed vacuoles. The quadriceps deteriorated progressively without impairment of other muscles. Genotypic study showed a lamin A/C gene mutation. 3 Conclusions: This family was affected by a new phenotype composed of an autosomal dominant severe dilated cardiomyopathy with conduction defects or arrhythmias and quadriceps myopathy. Cardiac abnormalities preceded neuromuscular disorders and defined the prognosis of this disease.

Summary Background Much attention is being paid to the education of and provision of medical information to patients, to optimize their understanding and acceptance of their disease. Aims To ascertain the impact of educating recent recipients of an implantable cardioverter defibrillator (ICD) on their perception and acceptance of a home monitoring (HM) system. Methods Questionnaire 1, completed one month after ICD implantation, was designed to assess: the quality of patient preparation for HM; patient comprehension of HM; and patient anxiety experienced during its installation. The comprehension questions were assigned a score of –2 for an incorrect answer, +1 for a correct answer and 0 for neither (total score ranging from –40 to +20). Questionnaire 2, completed six months after ICD implantation, assessed patient acceptance of and anxiety about HM. Results The registry included 571 patients (mean age 63.9 ± 12.8 years; 83% men; 76% of ICDs implanted for primary prevention) followed by HM for 6.2 ± 1.2 months. Questionnaire 1 was completed by 430 (75.3%) patients and questionnaire 2 by 398 (69.7%) patients. Younger patients had a better comprehension of HM than older patients. High-quality training conditions improved the comprehension score, and a positive association was observed between anxiety and acceptance levels and the comprehension score. The 80 ± 20% mean data transmission rate (days of transmission/days of follow-up ratio) was unrelated to the comprehension scores. Conclusion A clear understanding was associated with a higher acceptance of HM, although it was unrelated to the data transmission rate.