Emery-Dreifuss muscular dystrophy (EDMD) is a rare
genetic disease that affects the musculoskeletal system, including the heart, causing rhythm disorders and
cardiomyopathy, sometimes requiring an
implantable cardioverter-defibrillator (ICD) or
heart transplantation due to severe heart damage. The case described herein concerns a 16-year-old girl, with grade II
obesity, without other known pathological antecedents or cardiac pathology diagnosis given an annual history of cardiological investigations. She was admitted to the
Infectious Diseases Department with SARS-CoV-2 virus
infection. The anamnesis showed that the cardiological investigations performed in the past were completed due to the medical history antecedents of her sister, who had been diagnosed with
dilated cardiomyopathy, having undergone the placement of an ICD and a heart transplant. Numerous investigations were performed during hospitalization, which revealed high levels of high-sensitive cardiac
troponin I (hs-cTnI),
creatine kinase (CK) and N-terminal pro
b-type natriuretic peptide (
NT-proBNP). Dynamic electrocardiographic evaluations showed
ventricular extrasystoles, without clinical manifestations. The patient presented stage 2 arterial
hypertension (AHT) during hospitalization. A cardiac ultrasound was also performed, which revealed suspected mild subacute viral
myocarditis with
cardiomyopathy, and
antihypertensive medication was initiated. A heart MRI was performed, and the patient was diagnosed with
dilated cardiomyopathy, refuting the suspicion of viral subacute
myocarditis. After discharge, as the patient developed gait disorders with an impossible heel strike upon walking and limitation of the extension of the arms and ankles, was hospitalized in the Neurology Department. Electrocardiograms (ECGs) were dynamically performed, and because the rhythm disorders persisted, the patient was transferred to the Cardiology Department. On Holter monitoring, non-sustained
ventricular tachycardia (NSVT) was detected, so antiarrhythmic treatment was initiated, and placement of an ICD was subsequently decided and was diagnosed with EDMD. Genetic tests were also performed, and a mutation of the
lamin A/C gene was detected (LMNA gene exon 2, variant c448A > C (p.Thr150pro), heterozygous form, AD).