Clinical Features of Cardiac Involvement in Patients with Mitochondorial Disease

Abstract

PurposeMitochondrial diseases frequently involve several organs and present with a wide range of clinical expression. The aim of this study was to evaluate the cardiac involvement in patients with mitochondorial disease.Methods and ResultsWe retrospectively reviewed mitochondrial disease patients at Kochi Medical School Hospital.We have seen eight patients (four male patients) with mitochondorial disease. The diagnosis of mitochondorial disease was based on genetic analysis, family surveys, or tissue confirmation. Age at diagnosis was 42.9±17.2 years. Mean height was 149.8±6.5 cm and weight was 41.1±7.8 kg. Clinical subtypes were MELAS (that is Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, Stroke-like episodes) in four, Kearns-Sayre syndrome (KSS) in one and unclassified in three patients. Various electrocardiographic findings were seen: ST changes in three, T wave inversion in three, high voltage in two, and complete right bundle branch block in one patient. A patient with KSS had permanent pacemaker implantation due to complete atrioventricular block. Echocardiography revealed that five patients (four of them were MELAS) had left ventricular hypertrophy and three patients including a KSS patient showed left ventricular systolic dysfunction like a dilated cardiomyopathy.ConclusionsMitochondrial diseases have great diversity in cardiac presentation. PurposeMitochondrial diseases frequently involve several organs and present with a wide range of clinical expression. The aim of this study was to evaluate the cardiac involvement in patients with mitochondorial disease. Mitochondrial diseases frequently involve several organs and present with a wide range of clinical expression. The aim of this study was to evaluate the cardiac involvement in patients with mitochondorial disease. Methods and ResultsWe retrospectively reviewed mitochondrial disease patients at Kochi Medical School Hospital.We have seen eight patients (four male patients) with mitochondorial disease. The diagnosis of mitochondorial disease was based on genetic analysis, family surveys, or tissue confirmation. Age at diagnosis was 42.9±17.2 years. Mean height was 149.8±6.5 cm and weight was 41.1±7.8 kg. Clinical subtypes were MELAS (that is Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, Stroke-like episodes) in four, Kearns-Sayre syndrome (KSS) in one and unclassified in three patients. Various electrocardiographic findings were seen: ST changes in three, T wave inversion in three, high voltage in two, and complete right bundle branch block in one patient. A patient with KSS had permanent pacemaker implantation due to complete atrioventricular block. Echocardiography revealed that five patients (four of them were MELAS) had left ventricular hypertrophy and three patients including a KSS patient showed left ventricular systolic dysfunction like a dilated cardiomyopathy. We retrospectively reviewed mitochondrial disease patients at Kochi Medical School Hospital. We have seen eight patients (four male patients) with mitochondorial disease. The diagnosis of mitochondorial disease was based on genetic analysis, family surveys, or tissue confirmation. Age at diagnosis was 42.9±17.2 years. Mean height was 149.8±6.5 cm and weight was 41.1±7.8 kg. Clinical subtypes were MELAS (that is Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, Stroke-like episodes) in four, Kearns-Sayre syndrome (KSS) in one and unclassified in three patients. Various electrocardiographic findings were seen: ST changes in three, T wave inversion in three, high voltage in two, and complete right bundle branch block in one patient. A patient with KSS had permanent pacemaker implantation due to complete atrioventricular block. Echocardiography revealed that five patients (four of them were MELAS) had left ventricular hypertrophy and three patients including a KSS patient showed left ventricular systolic dysfunction like a dilated cardiomyopathy. ConclusionsMitochondrial diseases have great diversity in cardiac presentation. Mitochondrial diseases have great diversity in cardiac presentation.