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• W4365141379 abstract "Introduction McLeod's syndrome (MLS) is an X-linked disorder caused by mutations in the XK gene with neurological manifestations and cardiomyopathy. Herein we described a case of acute heart failure exacerbation in a 44-year-old Caucasian male with a confirmed diagnosis of MLS managed with GDMT and ICD placement. Case Presentation A 44-year-old Caucasian male with MLS presented with worsening dyspnea on exertion, orthopnea, paroxysmal nocturnal dyspnea, and bilateral leg swelling over the past 3 weeks. On exam, the patient was tachycardic with bibasilar crackles on lung auscultation and pitting edema of bilateral lower extremities. Laboratory investigations showed elevated BNP and mild transaminitis. An echocardiogram (Echo) showed severe LV systolic dysfunction with EF of 10%, global hypokinesis and dilation of the left ventricle. The patient was started on intravenous diuretics and was subsequently started on GDMT with metoprolol succinate, sacubitril-valsartan, spironolactone, and dapagliflozin. Extensive workup for cardiomyopathy was negative for ischemic and infiltrative diseases among others. However, the patient had recurrent runs of NSVT during the hospitalization, and cardiac MRI showed extensive myocardial scarring and as a result, the decision was made to proceed with ICD placement due to the high risk of sudden cardiac death. Follow-up Echo a few months later showed an improvement in LVEF of 45% with mild global hypokinesis. Discussion MLS is a genetic defect associated with a mutation in the XK gene and presents with hematological and neurological abnormalities and cardiac disease manifesting as cardiomyopathy and arrhythmias. There have been many cases of MLS described in the literature, with patients usually presenting with symptoms of cardiac disease from the fifth decade onwards. Cardiac arrhythmias, primarily ventricular tachycardias, are a point of concern especially in patients with extensive scar tissue. Given the high risk of myocardial scarring associated with MLS predisposing patients to life-threatening arrhythmias and sudden cardiac death, obtaining a cardiac MRI early in the disease course along with having a low threshold for early ICD placement is beneficial for these patients. The standard of care for heart failure with reduced EF is the initiation of GDMT with beta-blockers, aldosterone antagonists, ACEI/ARB/ARNI, and SGLT-2 inhibitors, and we conclude that early initiation of GDMT in patients with cardiomyopathy secondary to MLS is beneficial as evidenced by the improvement in LVEF in our patient. There have been no studies in the literature commenting on the timing of ICD placement or the effectiveness of GDMT in patients with cardiomyopathy secondary to MLS. Conclusion GDMT in MLS is promising, as evidenced by the improvement in EF in our patient. In addition, we would suggest obtaining a cardiac MRI in patients with MLS to evaluate the degree of scarring, as this would guide further management. We would also advocate for a low threshold for early ICD placement. McLeod's syndrome (MLS) is an X-linked disorder caused by mutations in the XK gene with neurological manifestations and cardiomyopathy. Herein we described a case of acute heart failure exacerbation in a 44-year-old Caucasian male with a confirmed diagnosis of MLS managed with GDMT and ICD placement. A 44-year-old Caucasian male with MLS presented with worsening dyspnea on exertion, orthopnea, paroxysmal nocturnal dyspnea, and bilateral leg swelling over the past 3 weeks. On exam, the patient was tachycardic with bibasilar crackles on lung auscultation and pitting edema of bilateral lower extremities. Laboratory investigations showed elevated BNP and mild transaminitis. An echocardiogram (Echo) showed severe LV systolic dysfunction with EF of 10%, global hypokinesis and dilation of the left ventricle. The patient was started on intravenous diuretics and was subsequently started on GDMT with metoprolol succinate, sacubitril-valsartan, spironolactone, and dapagliflozin. Extensive workup for cardiomyopathy was negative for ischemic and infiltrative diseases among others. However, the patient had recurrent runs of NSVT during the hospitalization, and cardiac MRI showed extensive myocardial scarring and as a result, the decision was made to proceed with ICD placement due to the high risk of sudden cardiac death. Follow-up Echo a few months later showed an improvement in LVEF of 45% with mild global hypokinesis. MLS is a genetic defect associated with a mutation in the XK gene and presents with hematological and neurological abnormalities and cardiac disease manifesting as cardiomyopathy and arrhythmias. There have been many cases of MLS described in the literature, with patients usually presenting with symptoms of cardiac disease from the fifth decade onwards. Cardiac arrhythmias, primarily ventricular tachycardias, are a point of concern especially in patients with extensive scar tissue. Given the high risk of myocardial scarring associated with MLS predisposing patients to life-threatening arrhythmias and sudden cardiac death, obtaining a cardiac MRI early in the disease course along with having a low threshold for early ICD placement is beneficial for these patients. The standard of care for heart failure with reduced EF is the initiation of GDMT with beta-blockers, aldosterone antagonists, ACEI/ARB/ARNI, and SGLT-2 inhibitors, and we conclude that early initiation of GDMT in patients with cardiomyopathy secondary to MLS is beneficial as evidenced by the improvement in LVEF in our patient. There have been no studies in the literature commenting on the timing of ICD placement or the effectiveness of GDMT in patients with cardiomyopathy secondary to MLS. GDMT in MLS is promising, as evidenced by the improvement in EF in our patient. In addition, we would suggest obtaining a cardiac MRI in patients with MLS to evaluate the degree of scarring, as this would guide further management. We would also advocate for a low threshold for early ICD placement." @default.
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• W4365141379 date "2023-04-01" @default.
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• W4365141379 title "A Case Of Mcleod's Syndrome Presenting With Severe Decompensated Heart Failure" @default.
• W4365141379 doi "https://doi.org/10.1016/j.cardfail.2022.10.351" @default.
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