Cardiac Involvement in Kearns-Sayre Syndrome

Barrera-Ramírez, Carlos Felipe; Barragán-Campos, Héctor Manuel; Ilarraza, Hermes; Iturralde, Pedro; Avila-Casado, M. Carmen; Oseguera, Jorge

doi:10.1016/s1885-5857(06)60673-7

Cited by 6 publications

(6 citation statements)

References 7 publications

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“…Patient 1 presented with premature ventricular contractions with aberrant conduction, while patient 2 had no documented alteration. Ventricular conduction disturbances such as polymorphic and monomorphic ventricular tachyarrhythmias (Barrera-Ramirez et al, 2005;Krishna, 2017;Subbiah, Kuchar, & Baron, 2007) have been reported in patients with KSS. Among central nervous system involvement, both patients had cerebellar ataxia and sensorineural hearing loss.…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial DNA deletion and duplication in Kearns–Sayre Syndrome (KSS) with initial presentation as Pearson Marrow‐Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia

Sabella-Jiménez

Otero-Herrera

Silvera-Redondo

et al. 2020

Molec Gen & Gen Med

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Section: Discussionmentioning

confidence: 99%

Mitochondrial DNA deletion and duplication in Kearns–Sayre Syndrome (KSS) with initial presentation as Pearson Marrow‐Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia

Sabella-Jiménez

Otero-Herrera

Silvera-Redondo

et al. 2020

Molec Gen & Gen Med

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“…7 There is also one report of asymptomatic monomorphic ventricular tachycardia noted on Holter monitoring of a patient with KSS. 11 Our case report is the first description of torsades de pointes in a patient with KSS and a pacemaker. Currently, pacemakers are considered appropriate therapy for patients with KSS who have recurrent syncope with either significant or suspected conduction disease.…”

Section: Discussionmentioning

confidence: 73%

“…Another patient was reported to have syncope associated with polymorphic ventricular tachycardia without prolongation of the QT interval or bradycardia 7 . There is also one report of asymptomatic monomorphic ventricular tachycardia noted on Holter monitoring of a patient with KSS 11 …”

Section: Discussionmentioning

confidence: 99%

Torsades de Pointes in a Patient with Kearns‐Sayre Syndrome: A Fortunate Finding

Subbiah

Kuchar

Baron

2007

Pacing Clinical Electrophis

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We present a case of a 33-year-old woman with Kearns-Sayre syndrome (KSS) who had a pacemaker implanted for complete heart block postpartum and was found to have torsades de pointes. KSS is a rare encephalomyopathy associated with varying levels of central nervous system involvement, typically resulting in progressive external opthalmoplegia and retinal degeneration. Onset of cardiac conduction disease can be insidious and is a strong predictor of sudden cardiac death. The mainstay of treatment has been the judicious implantation of pacemakers. However, as highlighted in this case, patients who have an underlying cardiomyopathy may be more appropriately treated with an implantable cardioverter defibrillator.

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“…Cardiac involvement is common in disorders characterized by mitochondrial dysfunction due to their impact on organs that rely heavily on energy (8). Following the confirmation of the diagnosis, the patient underwent a series of medical tests, including 12-lead surface electrocardiography (ECG), transthoracic echocardiography, and 24-h Holter monitoring.…”

Section: Case Presentationmentioning

confidence: 99%

Case report: Clinical profile, molecular genetics, and neuroimaging findings presenting in a patient with Kearns-Sayre syndrome associated with inherited thrombophilia

Gogu,

Jianu,

Parv

et al. 2024

Front. Neurol.

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BackgroundKearns-Sayre syndrome (KSS) is classified as one of the mitochondrial DNA (mtDNA) deletion syndromes with multisystemic involvement. Additionally, the negative prognosis is associated with inherited thrombophilia, which includes the presence of homozygous Factor V G1691A Leiden mutation, MTHFR gene polymorphisms C677T and A1298C, and PAI-1 675 homozygous genotype 5G/5G.Case presentationThis case report presents a 48-year-old man with chronic progressive external ophthalmoplegia, bilateral ptosis, cerebellar ataxia, cardiovascular signs (syncope, dilated cardiomyopathy, and cardiac arrest) with electrocardiographic abnormalities (first-degree atrioventricular block and major right bundle branch block), endocrine dysfunction (short stature, growth hormone insufficiency, primary gonadal insufficiency, hypothyroidism, and secondary hyperparathyroidism), molecular genetic tests (MT-TL2 gene), and abnormal MRI brain images, thus leading to the diagnosis of KSS. The patient came back 4 weeks after the diagnosis to the emergency department with massive bilateral pulmonary embolism with syncope at onset, acute cardiorespiratory failure, deep left femoral-popliteal vein thrombophlebitis, and altered neurological status. In the intensive care unit, he received mechanical ventilation through intubation. Significant improvement was seen after 2 weeks. The patient tested positive for inherited thrombophilia and was discharged in stable conditions on a new treatment with Rivaroxaban 20 mg/day. At 6 months of follow-up, ECG-Holter monitoring and MRI brain images remained unchanged. However, after 3 months, the patient died suddenly while sleeping at home.ConclusionThe genetic tests performed on KSS patients should also include those for inherited thrombophilia. By detecting these mutations, we can prevent major complications such as cerebral venous sinus thrombosis, coronary accidents, or sudden death.

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Cardiac Involvement in Kearns-Sayre Syndrome

Cited by 6 publications

References 7 publications

Mitochondrial DNA deletion and duplication in Kearns–Sayre Syndrome (KSS) with initial presentation as Pearson Marrow‐Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia

Mitochondrial DNA deletion and duplication in Kearns–Sayre Syndrome (KSS) with initial presentation as Pearson Marrow‐Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia

Torsades de Pointes in a Patient with Kearns‐Sayre Syndrome: A Fortunate Finding

Case report: Clinical profile, molecular genetics, and neuroimaging findings presenting in a patient with Kearns-Sayre syndrome associated with inherited thrombophilia

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