ardiac hypertrophy in Friedreich’s ataxia
نویسندگان
چکیده
Dear Editor, would suggest recalculating the data with respect to Recently, Lodi et al. described a deficiency of cardiac accepted definitions of myocardial hypertrophy. energetics in Friedreich’s ataxia (FRDA) patients in the absence of cardiac dysfunction and hypertrophy [1]. The authors concluded that cardiac metabolic dysfunction proceeds the development of myocardial hypertrophy. R eferences In this manuscript left ventricular hypertrophy (LVH) was defined as a septal (IVS) or posterior (PW) wall [1] Lodi R, Rajagopalan B, Blamire AM et al. Cardiac energetics are thickness of $11 mm. abnormal in Friedreich ataxia patients in the absence of cardiac 31 dysfunction and hypertrophy: an in vivo P magnetic resonance Most researchers, however, define hypertrophy when spectroscopy study. Cardiovasc Res 2001;52:111–119. wall thickness is $13 mm [2–4]. This is a well-established [2] Charron P, Dubourg O, Desnos M et al. Diagnostic value of and widely used criterion for hypertrophy. electrocardiography and echocardiography for familial hypertrophic Also, wall thickness depends on height, weight and sex. cardiomyopathy in a genotyped adult population. Circulation Therefore, Vasan et al. suggested determining wall thick1997;96:214–219. ness in relation to these variables [5]. Hypertrophy could [3] Maron BJ, Moller JH, Seidman CE et al. Impact of laboratory be then determined as a wall thickness larger than the 95th molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular diseases: hypertrophic carpercentile of normal wall thickness as suggested by diomyopathy, long-QT syndrome, and Marfan syndrome: a stateexamination of the Framingham Heart Study population ment for healthcare professionals from the councils on clinical [5]. cardiology, cardiovascular diseases in the young, and basic science, Lodi et al. did neither use the criterion of $13 mm nor Americal Heart Association. Circulation 1998;98:1460–1471. did they adjust wall thickness to height, weight, and sex. [4] McKenna WJ, Spirito P, Desnos M et al. Experience from clinical Therefore, the classification of patients only with IVS $11 genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected families. Heart mm as hypertrophy may not be correct. Because of the 1997;77:130–132. limitations in defining LVH by Lodi et al. we cannot [5] Vasan RC, Larson MG, Levy D et al. Distribution and categorization follow their conclusions. In particular, the similar degree of echocardiographic measurements in relation to reference limits. of energy depletion in patients with and without LVH as The Framingham Heart Study: formulation of a Heightand Sexclassified by Lodi et al. may be purely the result of the specific classification and its prospective Validation. Circulation arbitrary definition of myocardial hypertrophy. Thus, we 1997;96:1863–1873.
منابع مشابه
Clinical and Genetic Study of Friedreich’s Ataxia and Ataxia with Vitamin E Deficiency in 44 Moroccan Families
Introduction: Friedreich ataxia (FRDA) is a multi-system autosomal-recessive disease, the most common one of the genetically inherited ataxias. FRDA occurs as a consequence of mutations in the frataxin gene, with an expansion of a GAA trinucleotide. Ataxia with vitamin E deficiency (AVED) is characterized clinically by neurological symptoms with often striking resemblance to those of Friedreich...
متن کاملExpandable DNA Repeat and Human Hereditary Disorders
Background & Aims: Nearly 30 hereditary disorders in humans result from an increase in the number of copies of simple repeats in genomic DNA, including fragile X syndrome, myotonic dystrophy, Huntington’s disease, and Friedreich’s ataxia. One the most frequently occurring types of mutation is trinucleotide repeat expansion. The present study was conducted with the aim of investigating the cause...
متن کاملFriedreich’s Ataxia with Epileptic Seizures
Friedreich’s ataxia is an autosomal recessively inherited neurodegenerative disorder caused by expansions of an unstable GAA trinucleotide repeat in the STM7/X25 gene on chromosome 9q. This disease can be associated with many abnormalities: cerebellar and sensory ataxia, heart disease – aproximately two third of the patients, musculoskeletal deformities – scoliosis being the most common, diabet...
متن کاملParadoxical Abnormalities of Intra and Postoperative Neuroelectrical Recording of a Scoliotic Child with Friedreich’s Ataxia
Background Scoliosis is a common skeletal problem in Friedreich’s ataxia. There are both non-operative and operative treatment modalities for scoliosis in these patients. However, success with bracing is very limited. Surgical correction is beneficial, however intra-operative neuromonitoring in these patients could be misleading. We present a patient with Friedreich’s ataxia who presented with ...
متن کاملLiver Growth Factor (LGF) Upregulates Frataxin Protein Expression and Reduces Oxidative Stress in Friedreich’s Ataxia Transgenic Mice
Friedreich's ataxia (FA) is a severe disorder with autosomal recessive inheritance that is caused by the abnormal expansion of GAA repeat in intron 1 of FRDA gen. This alteration leads to a partial silencing of frataxin transcription, causing a multisystem disorder disease that includes neurological and non-neurological damage. Recent studies have proven the effectiveness of neurotrophic factor...
متن کامل