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Abnormal EKG

MedGen UID:
105507
Concept ID:
C0522055
Finding
Synonyms: Abnormal ECG; Abnormal electrocardiogram; ECG abnormalities; EKG abnormalities; Electrocardiographic abnormalities
SNOMED CT: Abnormal EKG finding (102594003); Abnormal ECG (102594003); Electrocardiogram abnormal (102594003)
 
HPO: HP:0003115

Definition

Abnormal rhythm of the heart. [from HPO]

Conditions with this feature

Duchenne muscular dystrophy
MedGen UID:
3925
Concept ID:
C0013264
Disease or Syndrome
The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). The mild end of the spectrum includes the phenotypes of asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria. The severe end of the spectrum includes progressive muscle diseases that are classified as Duchenne/Becker muscular dystrophy when skeletal muscle is primarily affected and as DMD-associated DCM when the heart is primarily affected. Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed motor milestones including delays in walking independently and standing up from a supine position. Proximal weakness causes a waddling gait and difficulty climbing stairs, running, jumping, and standing up from a squatting position. DMD is rapidly progressive, with affected children being wheelchair dependent by age 12 years. Cardiomyopathy occurs in almost all individuals with DMD after age 18 years. Few survive beyond the third decade, with respiratory complications and progressive cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness. With improved diagnostic techniques, it has been recognized that the mild end of the spectrum includes men with onset of symptoms after age 30 years who remain ambulatory even into their 60s. Despite the milder skeletal muscle involvement, heart failure from DCM is a common cause of morbidity and the most common cause of death in BMD. Mean age of death is in the mid-40s. DMD-associated DCM is characterized by left ventricular dilation and congestive heart failure. Females heterozygous for a DMD pathogenic variant are at increased risk for DCM.
Becker muscular dystrophy
MedGen UID:
182959
Concept ID:
C0917713
Disease or Syndrome
The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). The mild end of the spectrum includes the phenotypes of asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria. The severe end of the spectrum includes progressive muscle diseases that are classified as Duchenne/Becker muscular dystrophy when skeletal muscle is primarily affected and as DMD-associated DCM when the heart is primarily affected. Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed motor milestones including delays in walking independently and standing up from a supine position. Proximal weakness causes a waddling gait and difficulty climbing stairs, running, jumping, and standing up from a squatting position. DMD is rapidly progressive, with affected children being wheelchair dependent by age 12 years. Cardiomyopathy occurs in almost all individuals with DMD after age 18 years. Few survive beyond the third decade, with respiratory complications and progressive cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness. With improved diagnostic techniques, it has been recognized that the mild end of the spectrum includes men with onset of symptoms after age 30 years who remain ambulatory even into their 60s. Despite the milder skeletal muscle involvement, heart failure from DCM is a common cause of morbidity and the most common cause of death in BMD. Mean age of death is in the mid-40s. DMD-associated DCM is characterized by left ventricular dilation and congestive heart failure. Females heterozygous for a DMD pathogenic variant are at increased risk for DCM.
Muscular dystrophy, cardiac type
MedGen UID:
254845
Concept ID:
C1442927
Disease or Syndrome
Nathalie syndrome
MedGen UID:
338087
Concept ID:
C1850626
Disease or Syndrome
Nathalie syndrome has characteristics of deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother.
Friedreich ataxia 1
MedGen UID:
383962
Concept ID:
C1856689
Disease or Syndrome
Friedreich ataxia (FRDA) is characterized by slowly progressive ataxia with onset usually before age 25 years (mean age at onset: 10-15 yrs). FRDA is typically associated with dysarthria, muscle weakness, spasticity particularly in the lower limbs, scoliosis, bladder dysfunction, absent lower-limb reflexes, and loss of position and vibration sense. Approximately two thirds of individuals with FRDA have cardiomyopathy, up to 30% have diabetes mellitus, and approximately 25% have an "atypical" presentation with later onset or retained tendon reflexes.
Friedreich ataxia 2
MedGen UID:
356134
Concept ID:
C1865981
Disease or Syndrome
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia with associated limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, and decreased vibratory sense and proprioception. Onset is usually in the first or second decade, before the end of puberty (summary by Delatycki et al., 2000). For a general phenotypic description of Friedreich ataxia (FRDA), see FRDA1 (229300), which is caused by mutation in the FXN gene (606829) on chromosome 9q13.
Pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities
MedGen UID:
357274
Concept ID:
C1867407
Disease or Syndrome
Hereditary hypotrichosis with recurrent skin vesicles
MedGen UID:
442697
Concept ID:
C2751292
Disease or Syndrome
Hypotrichosis and recurrent skin vesicles (HYPTSV) is characterized by sparse to absent scalp hair, eyebrows, eyelashes, and body hair, as well as recurrent vesicles of scalp and skin. Some patients also exhibit trauma-induced blistering, and anomalies of dental enamel and of nails may be observed (Ayub et al., 2009; Onoufriadis et al., 2020).

Professional guidelines

PubMed

Wilde AAM, Amin AS, Postema PG
Heart 2022 Mar;108(5):332-338. Epub 2021 May 26 doi: 10.1136/heartjnl-2020-318259. PMID: 34039680Free PMC Article
Klein DA, Sylvester JE, Schvey NA
Am Fam Physician 2021 Jan 1;103(1):22-32. PMID: 33382560
Donofrio MT, Moon-Grady AJ, Hornberger LK, Copel JA, Sklansky MS, Abuhamad A, Cuneo BF, Huhta JC, Jonas RA, Krishnan A, Lacey S, Lee W, Michelfelder EC Sr, Rempel GR, Silverman NH, Spray TL, Strasburger JF, Tworetzky W, Rychik J; American Heart Association Adults With Congenital Heart Disease Joint Committee of the Council on Cardiovascular Disease in the Young and Council on Clinical Cardiology, Council on Cardiovascular Surgery and Anesthesia, and Council on Cardiovascular and Stroke Nursing
Circulation 2014 May 27;129(21):2183-242. Epub 2014 Apr 24 doi: 10.1161/01.cir.0000437597.44550.5d. PMID: 24763516

Recent clinical studies

Etiology

Van Hersh A, Jawad K, Feygin Y, Johnsrude C, Dasgupta S
Am J Emerg Med 2023 Sep;71:195-199. Epub 2023 Jun 28 doi: 10.1016/j.ajem.2023.06.041. PMID: 37423027Free PMC Article
Panumasvivat J, Sirikul W, Surawattanasakul V, Wangsan K, Assavanopakun P
Int J Environ Res Public Health 2023 Feb 16;20(4) doi: 10.3390/ijerph20043527. PMID: 36834222Free PMC Article
Yassin A, El-Salem K, Khassawneh BY, Al-Mistarehi AH, Jarrah M, Zein Alaabdin AM, Abumurad SK, Qasaimeh MG, Bashayreh SY, Kofahi RM, Alhayk KA, Alshorafat D, Al Qawasmeh M
Seizure 2021 Jul;89:19-23. Epub 2021 Apr 25 doi: 10.1016/j.seizure.2021.04.016. PMID: 33971558
Gupta A, Menoch M, Levasseur K, Gonzalez IE
Clin Pediatr (Phila) 2020 Feb;59(2):127-133. Epub 2019 Nov 9 doi: 10.1177/0009922819885660. PMID: 31709814
Sánchez-Montalvá A, Salvador F, Rodríguez-Palomares J, Sulleiro E, Sao-Avilés A, Roure S, Valerio L, Evangelista A, Molina I
PLoS One 2016;11(6):e0157597. Epub 2016 Jun 16 doi: 10.1371/journal.pone.0157597. PMID: 27308824Free PMC Article

Diagnosis

Van Hersh A, Jawad K, Feygin Y, Johnsrude C, Dasgupta S
Am J Emerg Med 2023 Sep;71:195-199. Epub 2023 Jun 28 doi: 10.1016/j.ajem.2023.06.041. PMID: 37423027Free PMC Article
Yassin A, El-Salem K, Khassawneh BY, Al-Mistarehi AH, Jarrah M, Zein Alaabdin AM, Abumurad SK, Qasaimeh MG, Bashayreh SY, Kofahi RM, Alhayk KA, Alshorafat D, Al Qawasmeh M
Seizure 2021 Jul;89:19-23. Epub 2021 Apr 25 doi: 10.1016/j.seizure.2021.04.016. PMID: 33971558
Gupta A, Menoch M, Levasseur K, Gonzalez IE
Clin Pediatr (Phila) 2020 Feb;59(2):127-133. Epub 2019 Nov 9 doi: 10.1177/0009922819885660. PMID: 31709814
Dasgupta S, Kelleman M, Slesnick T, Oster ME
Am J Emerg Med 2020 May;38(5):855-859. Epub 2019 Jun 25 doi: 10.1016/j.ajem.2019.06.045. PMID: 31272753
Hutchisson B, Cossey S, Wheeler R
AORN J 1999 Jan;69(1):222-7, 229-39; quiz 240-2, 245-6. doi: 10.1016/s0001-2092(06)62771-3. PMID: 9932179

Therapy

Yen CW, Lee J, Chang YT, Lee EP, Wu CT, Chang YJ
Pediatr Neonatol 2023 Nov;64(6):659-666. Epub 2023 May 24 doi: 10.1016/j.pedneo.2023.01.005. PMID: 37302919Free PMC Article
Sowa P, Blecha M
Ann Vasc Surg 2022 Apr;81:258-266. Epub 2021 Nov 6 doi: 10.1016/j.avsg.2021.08.045. PMID: 34752850
Guérin A, Goldschmidt D, Small T, Gagnon-Sanschagrin P, Romdhani H, Gauthier G, Kelkar S, Wu EQ, Niravath P, Dalal AA
Adv Ther 2018 Aug;35(8):1251-1264. Epub 2018 Jun 26 doi: 10.1007/s12325-018-0740-y. PMID: 29946797
H-Y CS, Xuemei C, G KR, M BL, V HG, A SF, K FS
BMC Neurol 2012 Dec 15;12:158. doi: 10.1186/1471-2377-12-158. PMID: 23241423Free PMC Article
Badrawi N, Hegazy RA, Tokovic E, Lotfy W, Mahmoud F, Aly H
Pediatr Cardiol 2009 Apr;30(3):325-30. Epub 2009 Jan 30 doi: 10.1007/s00246-008-9355-4. PMID: 19184182

Prognosis

Van Hersh A, Jawad K, Feygin Y, Johnsrude C, Dasgupta S
Am J Emerg Med 2023 Sep;71:195-199. Epub 2023 Jun 28 doi: 10.1016/j.ajem.2023.06.041. PMID: 37423027Free PMC Article
Yen CW, Lee J, Chang YT, Lee EP, Wu CT, Chang YJ
Pediatr Neonatol 2023 Nov;64(6):659-666. Epub 2023 May 24 doi: 10.1016/j.pedneo.2023.01.005. PMID: 37302919Free PMC Article
Yassin A, El-Salem K, Khassawneh BY, Al-Mistarehi AH, Jarrah M, Zein Alaabdin AM, Abumurad SK, Qasaimeh MG, Bashayreh SY, Kofahi RM, Alhayk KA, Alshorafat D, Al Qawasmeh M
Seizure 2021 Jul;89:19-23. Epub 2021 Apr 25 doi: 10.1016/j.seizure.2021.04.016. PMID: 33971558
Dasgupta S, Kelleman M, Slesnick T, Oster ME
Am J Emerg Med 2020 May;38(5):855-859. Epub 2019 Jun 25 doi: 10.1016/j.ajem.2019.06.045. PMID: 31272753
Brito MM, Seda Neto J, Fonseca EA, Pugliese R, Danesi VB, Candido HL, Porta A, Borges CVB, Porta G, Chapchap P, Miura IK
Pediatr Transplant 2018 Feb;22(1) Epub 2017 Nov 12 doi: 10.1111/petr.13081. PMID: 29131462

Clinical prediction guides

Van Hersh A, Jawad K, Feygin Y, Johnsrude C, Dasgupta S
Am J Emerg Med 2023 Sep;71:195-199. Epub 2023 Jun 28 doi: 10.1016/j.ajem.2023.06.041. PMID: 37423027Free PMC Article
Panumasvivat J, Sirikul W, Surawattanasakul V, Wangsan K, Assavanopakun P
Int J Environ Res Public Health 2023 Feb 16;20(4) doi: 10.3390/ijerph20043527. PMID: 36834222Free PMC Article
Yassin A, El-Salem K, Khassawneh BY, Al-Mistarehi AH, Jarrah M, Zein Alaabdin AM, Abumurad SK, Qasaimeh MG, Bashayreh SY, Kofahi RM, Alhayk KA, Alshorafat D, Al Qawasmeh M
Seizure 2021 Jul;89:19-23. Epub 2021 Apr 25 doi: 10.1016/j.seizure.2021.04.016. PMID: 33971558
Dasgupta S, Kelleman M, Slesnick T, Oster ME
Am J Emerg Med 2020 May;38(5):855-859. Epub 2019 Jun 25 doi: 10.1016/j.ajem.2019.06.045. PMID: 31272753
Sánchez-Montalvá A, Salvador F, Rodríguez-Palomares J, Sulleiro E, Sao-Avilés A, Roure S, Valerio L, Evangelista A, Molina I
PLoS One 2016;11(6):e0157597. Epub 2016 Jun 16 doi: 10.1371/journal.pone.0157597. PMID: 27308824Free PMC Article

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