Oral Case
Yeraz Khachatoorian, MD, MPH
Cardiology Fellow
Westchester Medical Center
Yeraz Khachatoorian, MD, MPH
Cardiology Fellow
Westchester Medical Center
Anthon Fuisz, MD
Cardiologist, Director Advanced Cardiac Imaging Department//MD
Westchester Medical Center
Pragya Ranjan, MD
Cardiologist, Associate Program Director Cardiology Fellowship Program/MD FACC
Westchester Medical Center
Gregg Lanier, MD
Director, Advanced Heart Failure and Heart Transplant Fellowship
Westchester Medical Center
A 59 year old female with recent history of PVCs. Initially, she was referred to cardiology for dizziness and dyspnea of exertion. Family history was significant for two sons diagnosed with Becker Muscular Dystrophy (BMD).
Diagnostic Techniques and Their Most Important Findings:
Initial testing included a transthoracic echocardiogram which showed mild to moderately reduced Left Ventricular (LV) systolic function. A LHC demonstrated non-obstructive CAD. Cardiac MRI (CMR) showed moderate to severe LV dilation and moderately reduced LV systolic function. There was late gadolinium enhancement (LGE) in the mid anterolateral wall (nearly transmural), in the basal antero-lateral (subendocardial) wall and in the mid inferior wall (intramyocardial). Parametric mapping demonstrated a normal T1 value and an elevated T2 value of 64 ms. Genetic testing was positive for heterozygous BMD. She was started on Goal-directed medical therapy and was tolerating this well until she was recently admitted to the hospital for left sided radiating chest pain, elevated troponin and an ECG with non-specific ST changes. Repeat LHC again showed non-obstructive CAD. Repeat CMR showed severely reduced LV systolic function, inferior wall hypokinesis, normal T1 and T2 values with persistence of LGE. Endomyocardial biopsy revealed interstitial fibrosis with focal fat deposition.
Learning Points from this Case:
In this case, the LGE pattern observed in CMR imaging, combined with genetic testing, supports a diagnosis of cardiomyopathy in BMD. The clinical presentation of chest pain, elevated cardiac troponin I (cTnI) levels, and the absence of obstructive CAD, along with normal T2 values rule out myocardial inflammation and edema, further suggesting cardiomyopathy in BMD rather than myocarditis. Although female carriers of BMD are more susceptible to cardiomyopathy, they typically experience a later onset and less severe disease, often without skeletal muscle symptoms. CMR plays a crucial role in diagnosing of cardiomyopathy in BMD, with the characteristic LGE pattern often showing subepicardial to intramural extension in the inferolateral wall. Additionally, CMR can aid in decision-making regarding the placement of implantable cardioverter-defibrillators, as cardiac arrhythmias are a leading cause of mortality in these patients.
Initial CMR, and repar CMR 2.5 months after initial CMR.png)
