The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy

Bruno, Claudio; Kirby, Denise M.; Koga, Yasutoshi; Garavaglia, Barbara; Duran, Gloria P.; Santorelli, Filippo M.; Shield, Lloyd K.; Xia, Wenlang; Shanske, Sara; Goldstein, Jeffrey; Iwanaga, Rikako; Akita, Yukihiro; Carrara, Franco; Davis, Andrew M.; Zeviani, Massimo; Thorburn, David R.; DiMauro, Salvatore

doi:10.1016/s0022-3476(99)70022-3

Cited by 29 publications

(15 citation statements)

References 27 publications

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“…[13][14][15][16] The clinical phenotypes vary widely because of the nature of the inheritance of mitochondrial mutations and range from fatal infantile cardiomyopathy to asymptomatic LV hypertrophy to sudden cardiac death. Some patients have predominant myopathic symptoms, whereas others have no apparent skeletal muscle involvement.…”

Section: Patient Presentation (Continued)mentioning

confidence: 99%

“…Overall, this patient's clinical presentation with both cardiomyopathy and myopathy was consistent with the majority of previous reports of the m.3303C>T mutation; moreover, higher heteroplasmy >70% is more consistent with more severe clinical involvement. [13][14][15][16] Treatment for such mitochondrial tRNA mutations includes coenzyme Q10, creatine monohydrate, and α-lipoic acid.…”

Section: Patient Presentation (Continued)mentioning

confidence: 99%

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The Heart Is Just a Muscle

et al. 2015

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Section: Patient Presentation (Continued)mentioning

confidence: 99%

Section: Patient Presentation (Continued)mentioning

confidence: 99%

The Heart Is Just a Muscle

et al. 2015

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“…19) Three subjects presented with fatal infantile cardiomyopathy while the remainder suffered from sudden cardiac death or cardiomyopathy and myopathy which developed later in life. Another 8 patients from 4 families were described by Bruno, et al and Goldstein, et al 20,21) Summarizing data published to date, we can conclude that a total of 6 patients with the m.3303C>T mutation manifested as fatal infantile cardiomyopathy have been reported, and another 6 subjects have been described with combination of cardiomyopathy and myopathy developing during the first decade of life. In two patients the disease presented as isolated myopathy at the age of 20 and 27 years, respectively.…”

Section: Discussionmentioning

confidence: 70%

“…To the best of our knowledge, there are only three reports on this mutation-related cardiomyopathy currently available in the literature. [19][20][21] So far only 15 patients have been reported. The mutation was first reported by Silvestri, et al, who described 7 patients from one family.…”

Section: Discussionmentioning

confidence: 99%

Hypertrophic Cardiomyopathy Due to the Mitochondrial DNA Mutation m.3303C>T Diagnosed in an Adult Male

et al. 2012

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SummaryMitochondrial disorders comprise a heterogeneous group of diseases with multisystem involvement including myocardium. Most cases of mitochondrial cardiomyopathy are associated with myopathy and encephalopathy and are generally present in infancy or childhood. The disease often exhibits a rapid downward course with death frequently occuring within the first year of life. We describe a unique case of hypertrophic cardiomyopathy due to mitochondrial DNA mutation m.3303C >T in the MT-TL1 gene, diagnosed accidentally in a 35-year-old male. The patient initially presented with stroke of assumed cardioembolic origin due to the presence of two interatrial communications associated with mobile aneurysm of the interatrial septum. No other extracardiac manifestations of mitochondrial disorder were observed. (Int Heart J 2012; 53: 383-387) Key words: Mitochondrial disease, Short PR interval M itochondrial diseases are a heterogeneous group of disorders that result from the structural, biochemical, or genetic derangement of mitochondria. 1)These syndromes are multisystemic and virtually every organ system can be affected. Cardiac involvement is frequently observed as an initial symptom of mitochondrial diseases, 2,3) however in the majority of cases it is combined with impairment of other organs. On the other hand, cardiac involvement rarely causes presenting symptoms in adulthood. 4) We describe a unique case of hypertrophic cardiomyopathy due to mitochondrial DNA mutation m.3303C>T in the MT-TL1 gene, diagnosed accidentally in an adult male. The patient initially presented with stroke of assumed cardioembolic origin due to the presence of patent foramen ovale and an atrial septal defect associated with mobile aneurysm of the interatrial septum. No other extracardiac manifestations of mitochondrial disorder were present. Case ReportA 35-year-old man with no medical history was initially referred to the neurological department with sudden onset of mixed aphasia, right-sided hemiparesis, and central paresis of the facial nerve lasting for 4 hours. On admission, physical examination revealed no other abnormalities, blood pressure was 110/70 mmHg and pulse rate 100/minute. The ECG showed sinus rhythm with no apparent abnormalities as interpreted by the attending neurologist. A CT scan demonstrated left-sided basal ganglia hemorrhage combined with trace subarachnoidal hemorrhage in the left sylvian region. Subsequent CT examination performed during the first week of hospitalization confirmed the presence of an atypical putaminal hemorrhage that was interpreted as a hemorrhagical transformation of the original ischemic lesion in the territory of the left middle cerebral artery. Duplex ultrasound imaging did not reveal any atherosclerotic plaques or congenital pathology of carotid arteries. After 3 weeks of intensive rehabilitation, when complete recovery of the neurological status was achieved, the patient was referred to the cardiology department for further evaluation regarding a possible cardioembolic origin of the ...

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“…[38][39][40]. Three other point mutations in the tRNA Leu(UUR) have been associated with cardiomyopathies alone (A3260G, C3303T), associated with myopathy (A3260G, C3303T), or as part of the MELAS syndrome (C3254G, A3260G) [38,[41][42][43][44][45][46] , The C4320T mutation was also associated with a multiorgan disorder in a child who died at age 7 months of cardiac failure with hypertrophic cardiomyopathy and a severe encephalopathy manifesting as seizures, nystagmus, and spastic tetraparesis [47] . Intriguingly, the three other point mutations in the tRNA Ile gene, A4295G, A4300G, and A4317G, have been identified only in patients with isolated hypertrophic cardiomyopathies [15,[48][49] .…”

Section: Protein Synthesis Mutationsmentioning

confidence: 99%