Cardiac abnormalities in patients with Leber’s hereditary optic neuropathy

• Published in: Heart (British Cardiac Society) Vol. 89; no. 7; pp. 791 - 792
• Main Authors: Sorajja, P, Sweeney, M G, Chalmers, R, Sachdev, B, Syrris, P, Hanna, M, Wood, N D, McKenna, W J, Elliott, P M
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd and British Cardiovascular Society 01.07.2003; BMJ; BMJ Publishing Group Ltd; BMJ Publishing Group LTD; Copyright 2003 by Heart
• Subjects: Adenosine; Adult; Aged; Arrhythmias, Cardiac - etiology; Biological and medical sciences; Cardiomyopathy; Complications and side effects; Demographic aspects; Diseases of visual field, optic nerve, optic chiasma and optic tracts; Dyspnea - etiology; Electrocardiography; Female; Heart Defects, Congenital - complications; Heart Defects, Congenital - genetics; Heart diseases; Humans; hypertrophic cardiomyopathy; Leber's congenital amaurosis; Leber’s hereditary optic atrophy; Male; Medical sciences; Middle Aged; mitochondria; Mitochondrial DNA; Mutation; Ophthalmology; Optic Atrophy, Hereditary, Leber - complications; Optic Atrophy, Hereditary, Leber - genetics; Patients; Proteins; Risk factors; Scientific Letters; Studies; United Kingdom; Sonography; Heart; Human; Pharmacologic test; Nervous system diseases; Adenosine; Echocardiography; Pathophysiology; Cardiovascular disease; Exploration; Eye disease; Concomitant disease; Heart disease; Leber optic neuropathy; Structural analysis
• ISSN: 1355-6037; 1468-201X
• DOI: 10.1136/heart.89.7.791

Table 1 Clinical characteristics and study results for patients harbouring the 3460, 114480, and 11778 mtDNA mutations Echocardiography ECG Patient Age/ sex MtDNA mutation Cardiac symptoms LA (mm) EDD (mm) ESD (mm) MLVWT (mm) PAT TWI LVH ST abnl 1 62/F 3460 - 36 46 22 16 ASH + + + 2 53/M 3460 - 42 35 22 28 CON + + + 3 53/M 3460 Syncope, angina, dyspnoea 39 30 19 26 CON + + + 4 58/F 3460 Syncope, angina, dyspnoea, palpitations 38 36 23 15 CON + + + 5 38/M 3460 Dyspnoea, palpitations 25 53 32 17 DIS + + + 6 36/F 3460 - 31 42 24 10 - + - + 7 33/F 3460 - 30 46 30 9 - - - - 8 24/M 3460 - 38 48 29 11 - - - - 9 31/M 3460 - 38 47 39 10 - - - - 10 34/F 3460 - 31 44 29 10 - - - + 11 32/M 3460 - 39 50 32 11 - - - + 12 42/M 11778 Dyspnoea, palpitations 34 48 27 12 - - + + 13 44/M 11778 Post-micturition syncope 27 47 29 11 - + + + 14 54/M 11778 Post-micturition syncope 38 48 30 11 - - + - 15 27/M 11778 - 32 47 29 10 - - - - 16 48/F 11778 Palpitations 21 44 25 10 - - - - 17 57/M 11778 - 36 46 26 10 - - - - 18 42/M 11778 - 34 51 29 10 - + - + 19 32/F 11778 - 30 45 29 9 - + - - 20 51/M 14484 Palpitations 40 59 36 10 - - + + 21 63/M 14484 - 33 46 21 10 - - - - 22 56/M 14484 - 42 45 30 9 - - - - 23 40/M 14484 Nil 37 45 25 12 - - - - 24 67/M 14484 Nil 30 45 26 7 - - - - ASH, asymmetrical septal hypertrophy; CON, concentric hypertrophy; LVH, left ventricular hypertrophy; DI, distal hypertrophy; EDD, end diastolic diameter; ESD, end systolic diameter; MLVWT, maximal left ventricular wall thickness; LA, left atrium; PAT, pattern of left ventricular hypertrophy; ST abnl, ST segment abnormality; TWI, T wave inversion. Extensive screening for sarcomeric protein gene mutations that cause familial hypertrophic cardiomyopathy would be necessary to exclude this possibility, but several observations suggest that the cardiomyopathy was secondary to the 3460 mtDNA mutation; specifically the association between cardiomyopathy and other mitochondrial disorders, the presence of minor cardiac abnormalities in previous studies of patients with LHON, and the presence of 100% co-segregation of the 3460 mutation and cardiac disease.