23468586 Visualization

A 23 Age - year Age - old Age woman Sex with a history of carnitine Disease_disorder deficiency Disease_disorder presented with exertional Detailed_description dyspnea Sign_symptom and fatigue Sign_symptom .
She was first diagnosed with nonischemic Detailed_description cardiomyopathy Disease_disorder at age Age 10 Age years Age , when she presented with symptoms History of congestive Detailed_description heart Disease_disorder failure Disease_disorder and transthoracic Diagnostic_procedure echocardiography Diagnostic_procedure ( TTE Diagnostic_procedure ) revealed severe History left Disease_disorder ventricular Disease_disorder (LV) History dysfunction Disease_disorder .
At that time, her total Diagnostic_procedure carnitine Diagnostic_procedure level Diagnostic_procedure was <3 Lab_value μmol/L Lab_value (normal range, 25–69 μmol/L), and her free Diagnostic_procedure carnitine Diagnostic_procedure level Diagnostic_procedure was <3 Lab_value μmol/L Lab_value (normal range, 16–60 μmol/L).
The cardiomyopathy Disease_disorder was attributed to carnitine Disease_disorder deficiency Disease_disorder .
After 5 Duration months Duration of therapy with carnitine History supplements History , her total Diagnostic_procedure carnitine Diagnostic_procedure and free Diagnostic_procedure carnitine Diagnostic_procedure levels Diagnostic_procedure had increased to 86 Lab_value μmol/L Lab_value and 48 Lab_value μmol/L Lab_value , respectively, and her left Biological_structure ventricular Biological_structure systolic Diagnostic_procedure function Diagnostic_procedure had normalized Lab_value , with fractional Diagnostic_procedure shortening Diagnostic_procedure of 34.7% Lab_value .
At the current admission Clinical_event , the patient reported that, over Duration the Duration past Duration 10 Duration years Duration , she had only been intermittently Detailed_description compliant Detailed_description with her carnitine Medication supplement Medication regimen Medication , and that, approximately 6 Date months Date before Date presentation Date , her total Diagnostic_procedure carnitine Diagnostic_procedure and free Diagnostic_procedure carnitine Diagnostic_procedure levels Diagnostic_procedure had dropped to 18 Lab_value μmol/L Lab_value and 17 Lab_value μmol/L Lab_value , respectively.
She underwent TTE Diagnostic_procedure followed by cardiac Diagnostic_procedure magnetic Diagnostic_procedure resonance Diagnostic_procedure ( CMR Diagnostic_procedure ) with gadolinium Diagnostic_procedure enhancement Diagnostic_procedure .
The TTE Diagnostic_procedure showed normal Lab_value LV Diagnostic_procedure function Diagnostic_procedure and mild Severity , concentric Detailed_description LV Disease_disorder hypertrophy Disease_disorder (Fig.1).
Results of CMR Diagnostic_procedure confirmed normal Lab_value LV Diagnostic_procedure size Diagnostic_procedure and function Diagnostic_procedure but showed focal Detailed_description increased Lab_value wall Diagnostic_procedure thickness Diagnostic_procedure at the basal Biological_structure and mid Biological_structure lateral Biological_structure wall Biological_structure ( end Diagnostic_procedure - diastolic Diagnostic_procedure thickness Diagnostic_procedure , 1.6 Distance cm Distance ) (Fig.2) with patchy Detailed_description delayed Diagnostic_procedure gadolinium Diagnostic_procedure enhancement Diagnostic_procedure (Fig.3).
On the basis of the patient's family history of sudden Disease_disorder cardiac Disease_disorder death Disease_disorder , abnormal Family_history myocardial Diagnostic_procedure structure Diagnostic_procedure , and underlying Disease_disorder disease Disease_disorder process Disease_disorder , a dual Detailed_description - chamber Detailed_description implantable Therapeutic_procedure cardioverter Therapeutic_procedure - defibrillator Therapeutic_procedure was placed for primary prevention of sudden cardiac death from both bradyarrhythmias and tachyarrhythmias.