TABLE 3.
Cardiac monitoring and treatment recommendations for disordersthat commonly combine movement disorders and heart disease *
| Entity | Monitoring or Screening Recommendations | Treatment Recommendations |
|---|---|---|
| FRDA (ATX‐ATM; MIM #229300) | ECG and ECHO, should be performed at diagnosis and then at least annually; a Holter and/or Loop monitor assessment should be performed in case of palpitations |
For slowing or prevention of deterioration of left ventricular contraction in asymptomatic individuals with reduced ejection fraction: an angiotensin‐converting enzyme inhibitor (Enalapril, Ramipril, Lisinopril, or Trandolapril) is first‐line therapy, but if the angiotensin‐converting enzyme inhibitor is not tolerated then an angiotensin 2 receptor blocker (Candesartan, Valsartan) should be commenced instead (second‐line therapy). β‐Blockers (Carvedilol, Bisoprolol, or long‐acting Metoprolol) should be considered as an addition to an angiotensin‐converting enzyme inhibitor or angiotensin 2 receptor blocker, particularly if the heart rate is >75/min For treatment of symptomatic heart failure with reduced LVEF: a diuretic should be prescribed for fluid overload. An angiotensin‐converting enzyme inhibitor is first‐line therapy, but if the angiotensin‐converting enzyme inhibitor is not tolerated then an angiotensin 2 receptor blocker should be commenced instead (second‐line therapy). β‐Blockers (Carvedilol, Bisoprolol, or long‐acting Metoprolol) should be added (first‐line therapy) to the angiotensin‐converting enzyme inhibitor or angiotensin 2 receptor blocker; however, the role of β‐blockers in children is less clear. Calcium channel blockers with negative inotropic effects (Verapamil and Diltiazem) should be avoided. Digoxin should be considered for control of ventricular response if atrial fibrillation is present For prevention of recurrence of atrial arrhythmias: β‐blockers (Metoprolol, Bisoprolol, or Carvedilol), Sotalol, Dofetilide, or Amiodarone. Agents that should be avoided include Quinidine, Flecainide, Propafenone, and Disopyramide because of their negatively inotropic and/or proarrhythmic effects. Anticoagulation should not be commenced if the LVEF is normal and there are no other risk factors for thromboembolism. Anticoagulation with Warfarin or 1 of the novel anticoagulants (Dabigatran, Rivaroxaban, or Apixaban) should be considered in paroxysmal or permanent atrial fibrillation if 1 CHADS2 risk factor is present and will be generally indicated if more than 1 CHADS2 risk factor is present For prevention of recurrence of ventricular arrhythmias: a β‐blocker (Metoprolol, Bisoprolol, or Carvedilol) should be used, but Sotalol and Amiodarone are second‐line options if there is arrhythmia recurrence despite β‐blocker use Device therapy for patients with symptomatic heart failure and reduced ejection fraction: implantation of an automatic internal cardioverter defibrillator should be considered if LVEF is ≤35%, the individual has NYHA functional class 2 or 3 symptoms despite receiving optimal medical therapy, and the individual has a reasonable expectation of survival with good functional status for more than 1 yr. Cardiac resynchronization therapy should be considered in individuals with LVEF of ≤35%, sinus rhythm, a QRS duration ≥0.12 s, and NYHA functional class 3 or 4 symptoms despite receiving optimal medical therapy Idebenone for hypertrophic cardiomyopathy is controversial and of low‐quality evidence Septal myectomy for severe hypertrophic obstructive cardiomyopathy Cardiac transplantation for heart failure secondary to dilated cardiomyopathy (case‐by‐case basis with specific ethical considerations) |
| Refsum disease (ATX‐PHYH; MIM #266500 and ATX‐PEX7; MIM #614879) | ECG, ECHO |
Phytanic acid restriction diet, plasmapheresis, or LDL‐apheresis Antihypertensive drugs to delay cardiomyopathy Antiarrhythmic drugs (amiodarone should not be used as an antiarrhythmic drug because of the risk of hyperthyroidism, which results in catabolism and increased phytanic acid release from tissues) Cardiac transplantation in severe cardiomyopathy |
| ATX‐PMM2 (MIM #601785) | ECHO | Corrective heart surgery for congenital heart defects. |
| ATX‐DNAJC19 (MIM #610198) | ECG, ECHO | β‐blockers, digoxin, carnitine, and ubiquinone for cardiomyopathy. |
| Huntington's disease (CHOR‐HTT; MIM #143100) | Baseline ECG monitoring while initiating tetrabenazine or other QT‐prolonging medications | No specific recommendations |
| Sydenham's chorea | ECG, ECHO |
Secondary prophylaxis with Penicillin G (1.2 million units by intramuscular injection every 21 days). In children younger than 6 yr of age, the dosage of penicillin G is 0.6 million units intramuscularly every 21 days. Allergic patients can be given oral sulfa drugs, such as sulfadiazine, 500 mg every 6 hr. The duration of treatment is dependent on the severity of cardiac involvement. Patients with no carditis may stop prophylaxis after 5 yr or age 18 (whichever is longer), those with mild carditis should continue for 10 yr or age 21, and those with moderate to severe carditis should receive lifelong prophylaxis. For endemic areas, it is recommended to maintain secondary prophylaxis up to age 21 yr Heart valve surgery in severe mitral or aortic valve disease |
| McLeod syndrome (CHOR‐XK; MIM #300842) | ECG, ECHO | No specific recommendations |
| Chorea‐acanthocytosis (CHOR‐VPS13A; MIM #200150) | ECG, ECHO | Pacemaker implantation for severe arrhythmias (isolated cases) |
| Parkinson's disease (including SNCA‐related PD) and Dementia with Lewy bodies | Baseline ECG monitoring while initiating domperidone, donepezil or other QT‐prolonging medications | No specific recommendations |
| 22q11.2 deletion syndrome‐associated Parkinson's disease | ECHO | Corrective heart surgery for congenital heart defects |
| Restless legs syndrome and periodic leg movements of sleep | A recommendation for prevention of cardiovascular disease should be considered on an individual basis | No specific recommendations besides management of possible comorbidities, such as hypertension, renal failure, diabetes mellitus, iron deficiency, and insomnia or sleep fragmentation |
| Wilson's disease (DYT/ATX‐ATP7B; MIM #277900) | ECG, ECHO | No specific recommendations other than traditional management of cardiomyopathy and arrhythmias |
| Mitochondrial disorders: MERRF and MELAS syndromes, Kearns‐Sayre syndrome, Leigh syndrome, Leber hereditary optic neuropathy, NARP syndrome, POLG‐related disorders, and some oxidative phosphorylation and respiratory chain disorders | ECG, ECHO | No specific recommendations other than traditional management of cardiomyopathy and arrhythmias; cardioverter‐defibrillator implantation is sometimes required for cardiac conduction defects |
| Cerebrotendinous xanthomatosis (ATX‐CYP27A1; MIM #213700) | ECG, ECHO | Reduced‐fat diet followed by pharmacological treatment with statins and/or LDL apheresis and chenodeoxycholic acid; caution has been suggested with statins as they may induce muscle damage and rhabdomyolysis |
| ATP1A3‐related syndromes | Baseline ECG; cardiac ultrasound, and Holter ECG; annual 12‐lead ECG screening with Holter monitoring; implantation of a cardiac loop recorder in patients with abnormal ECG and cardiac symptoms | Placement of a pacemaker or implantable cardioverter‐defibrillator for asymptomatic or symptomatic asystole or ventricular arrhythmias |
| Autoimmune movement disorders: IgLON5‐antibody‐linked tauopathy, PERM, autoimmune DPPX potassium channel antibody autoimmune disorder, and autoimmune anti‐LGI1 limbic encephalitis | ECG | No specific recommendations other than traditional management of cardiomyopathy and arrhythmias; placement of a pacemaker for symptomatic bradycardia (in IgLON5‐antibody‐linked tauopathy and autoimmune anti‐LGI1 limbic encephalitis) |
These recommendations are based on the consensus clinical management guidelines for FRDA (Corben et al.) and were here applied according to the author's consideration to other disorders that commonly combine movement disorders and heart disease. These recommendations may also apply for some other conditions that infrequently associate movement disorders with cardiac involvement (see Table S1).
DPPX, Dipeptidyl‐peptidase‐like protein‐6; FRDA, Friedreichʼs ataxia; IgLON5, immunoglobulin‐like cell adhesion molecule 5; ECG, electrocardiogram; ECHO, echocardiogram; LDL, low‐density lipoprotein; LVEF, left ventricular ejection fraction; LGI1, Leucine Rich Glioma Inactivated 1; NARP, neuropathy, ataxia, and retinitis pigmentosa; NYHA, New York Heart Association; PERM, autoimmune glycine‐receptor antibody‐related progressive encephalomyelitis.