TABLE 1.
Neurological conditions mainly manifested by movement disorders with common and prominent cardiac involvement
| Cardiac Manifestations | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Entity | Movement Disorders | Hypertrophic or Dilated Cardiomyopathy | Electrocardiographic Abnormalities | Structural Heart Defects | Coronary Disease | Valvulopathy | Cardiac Autonomic Dysfunction | Amyloid Deposition | Sudden Cardiac Death |
| Friedreich ataxia (ATX‐ATM; MIM #229300) | Ataxia, chorea, myoclonus, spastic ataxia, dystonia | X (hypertrophic > dilated) | X (atrial fibrillation, flutter, T‐wave inversion, abnormally broad Q waves, short PR interval, other repolarization abnormalities, right QRS axis deviation) | X | X | X | |||
| Refsum disease (ATX‐PHYH; MIM #266500 and ATX‐PEX7; MIM #614879) | Ataxia | X (hypertrophic and dilated) | X (first‐degree atrioventricular block, bundle branch block) | X | |||||
| Phosphomannomutase‐2 deficiency‐congenital disorder of glycosylation (ATX‐PMM2; MIM #601785) | Ataxia, dystonia | X (hypertrophic) | X | ||||||
| Dilated cardiomyopathy with ataxia syndrome (ATX‐DNAJC19; MIM #610198) | Ataxia, dystonia, tremor, and dyskinesia | X (dilated) | X (long QT syndrome or nonspecific ST/T wave changes) | X | |||||
| Huntington's disease (CHOR‐HTT; MIM #143100) | Chorea, parkinsonism, dystonia, myoclonus | X (atrial and ventricular fibrillation, decreased RR interval, prolonged QRS, QTc, intraventricular conduction delay, and right bundle branch block) | X | X | X | ||||
| Sydenham's chorea | Chorea | X (prolonged PR and QTc intervals) | X (especially mitral valve) | ||||||
| McLeod syndrome (CHOR‐XK; MIM #300842) | Chorea | X (hypertrophic > dilated) | X (atrial fibrillation or flutter, slowing of atrio‐ventricular conduction and repolarization alterations) | X | X | X | |||
| Chorea‐acanthocytosis (CHOR‐VPS13A; MIM #200150) | Chorea, dystonia, parkinsonism | X (hypertrophic and dilated) | X (ventricular tachycardia or sick sinus syndrome with severe bradycardia and pacemaker implantation) | ||||||
| Parkinson's disease (including SNCA‐related Parkinson's disease) | Parkinsonism, tremor, dystonia dyskinesia | X | X | X | |||||
| Dementia with Lewy bodies | Parkinsonism, tremor, dystonia, dyskinesia | X | X | ||||||
| 22q11.2 deletion syndrome‐associated Parkinson's disease (MIM #192430) | Parkinsonism, tremor, myoclonus | X | X | ||||||
| Restless legs syndrome and periodic leg movements of sleep | RLS, PLMS | X (atrial fibrillation) | X | X | |||||
| Wilson's disease (DYT/ATX‐ATP7B; MIM #277900) | Dystonia, parkinsonism, ataxia, chorea, myoclonus, tremor, orofacial dyskinesias | X (hypertrophic > dilated) | X (supraventricular tachycardia, extrasystolic beats, atrial and ventricular fibrillation, cardiac arrest, early repolarization, ST depression, T‐wave inversion, wide QRS complex, premature atrial or ventricular contractions, sinoatrial block, Mobitz type 1 atrioventricular block) | X | X | ||||
| Mitochondrial disorders: MERRF and MELAS syndromes (mt‐MTTK; MIM #590060), Kearns‐Sayre syndrome (MIM #530000), Leigh syndrome (MIM #256000 and MIM #220111), NARP syndrome (MIM #551500), and oxidative phosphorylation and respiratory chain disorders, Leber hereditary optic neuropathy (MIM #535000), POLG‐related disorders, including SANDO syndrome (MIM #607459, #258450, #203700, #613662) | Myoclonus, dystonia, ataxia, parkinsonism, tremor, spastic paraparesis | X (hypertrophic and dilated) | X (symptomatic bradycardia, sinus tachycardia, supraventricular tachycardia, nonsustained ventricular tachycardia, ventricular extrasystoles, bundle branch block, complete atrial‐ventricular block, heart block, and Wolff–Parkinson–White syndrome) | X | X | X | |||
| Cerebrotendinous xanthomatosis (ATX‐CYP27A1; MIM #213700) | Ataxia, parkinsonism, dystonia, myoclonus, spastic paraplegia, | X (hypertrophic) | X (ventricular tachycardia and atrial fibrillation ) | X | X | X | |||
| ATP1A3‐related syndromes | Dystonia, parkinsonism, ataxia, paroxysmal movements | X | X | ||||||
X indicates the presence of the corresponding heart manifestation.
MIM, Mendelian Inheritance in Man; PLMS, periodic limb movements of sleep; RLS, restless legs syndrome; MERRF, myoclonic epilepsy associated with ragged‐red fibers; MELAS, mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes; NARP, neuropathy, ataxia, and retinitis pigmentosa; SANDO, sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.