Clinical Characteristics and Outcomes of Adult Patients with Duchenne Muscular Dystrophy Followed in a Cardiomyopathy Clinic - The 65th Annual Conference of the Israel Heart Society & The Israel Society of Cardiothoracic Surgery, 24-25 April 2018

Donna Zwas Cardiology, Hadassah University Medical Center, Jerusalem, Israel Esther-Lee Marcus Independent Living Neighborhood, Alyn Hospital, Jerusalem, Israel Orly Ezra Cardiology, Hadassah University Medical Center, Jerusalem, Israel Ronen Durst Cardiology, Hadassah University Medical Center, Jerusalem, Israel Israel Gotsman Cardiology, Hadassah University Medical Center, Jerusalem, Israel Sara Hoss Cardiology, Hadassah University Medical Center, Jerusalem, Israel Yair Elizur Cardiology, Hadassah University Medical Center, Jerusalem, Israel Andrei Keren Cardiology, Hadassah University Medical Center, Jerusalem, Israel Heart Failure, Clalit Health Services, Israel

Duchenne muscular dystrophy (DMD) is an X‐linked disorder that affects ≈1 in 3500 to 5000 males. Due to improvements in ventilator care, currently the associated dilated cardiomyopathy(DCM) is the most prevalent cause of death. We report on a cohort of Duchenne patients >16 years old followed in an adult cardiomyopathy clinic over the past 7 years.

Methods: Retrospective chart review of patients with a diagnosis of DMD followed in the adult clinic. Genetic confirmation was not performed in the majority of patients.

Results: 23patients were identified, age16-45 (mean 31), of whom 15 remained alive. All patients were at least partially ventilator dependent. Of the patients who died, 4 died in their 40s (3 of heart failure, one of complications of stroke,) 2 in the 30s (heart failure, intestinal obstruction) and one died suddenly in his 20s despite ICD placement, presumably of pulmonary causes. 3 patients did not have evidence of cardiomyopathy, which suggests that they may suffer from an alternate non-DMD dystrophy.

The majority of patients received medical therapy, and at the most recent visit, 91% were taking ACE/ARB, 73% were taking beta blocker, and 45% were taking spironolactone. ICDs were placed in 4 patients, refused in one, and placement was not successful in a 6^th. In 10 patients with > 3 serial echos available for review, the rate of LV dilatation was 1.45mm/year. Death occured in patients with LV internal diastolic diameter of >50mm.

Conclusions: We report on a cohort of adult DMD patients. 80% of the mortality was due to cardiovascular causes, and occurred in patients with an LVID of >50mm. LV enlargement to this level may signal a need for intensification of treatment and increased vigilance.