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Abnormal ST segment

MedGen UID:
868594
Concept ID:
C4022993
Anatomical Abnormality
HPO: HP:0012249

Definition

An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment. [from HPO]

Conditions with this feature

Cardiomyopathy, familial restrictive, 3
MedGen UID:
382807
Concept ID:
C2676271
Disease or Syndrome
Familial restrictive cardiomyopathy is a genetic form of heart disease. For the heart to beat normally, the heart (cardiac) muscle must contract and relax in a coordinated way. Oxygen-rich blood from the lungs travels first through the upper chambers of the heart (the atria), and then to the lower chambers of the heart (the ventricles).\n\nAdults with familial restrictive cardiomyopathy typically first develop shortness of breath, fatigue, and a reduced ability to exercise. Some individuals have an irregular heart beat (arrhythmia) and may also experience a sensation of fluttering or pounding in the chest (palpitations) and dizziness. Abnormal blood clots are commonly seen in adults with this condition. Without treatment, approximately one-third of adults with familial restrictive cardiomyopathy do not survive more than five years after diagnosis.\n\nIn people with familial restrictive cardiomyopathy, the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles.\n\nFamilial restrictive cardiomyopathy can appear anytime from childhood to adulthood. The first signs and symptoms of this condition in children are failure to gain weight and grow at the expected rate (failure to thrive), extreme tiredness (fatigue), and fainting. Children who are severely affected may also have abnormal swelling or puffiness (edema), increased blood pressure, an enlarged liver, an abnormal buildup of fluid in the abdominal cavity (ascites), and lung congestion. Some children with familial restrictive cardiomyopathy do not have any obvious signs or symptoms, but they may die suddenly due to heart failure. Without treatment, the majority of affected children survive only a few years after they are diagnosed.
Dilated cardiomyopathy 1NN
MedGen UID:
863093
Concept ID:
C4014656
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene.

Professional guidelines

PubMed

Weusten BLAM, Bisschops R, Dinis-Ribeiro M, di Pietro M, Pech O, Spaander MCW, Baldaque-Silva F, Barret M, Coron E, Fernández-Esparrach G, Fitzgerald RC, Jansen M, Jovani M, Marques-de-Sa I, Rattan A, Tan WK, Verheij EPD, Zellenrath PA, Triantafyllou K, Pouw RE
Endoscopy 2023 Dec;55(12):1124-1146. Epub 2023 Oct 9 doi: 10.1055/a-2176-2440. PMID: 37813356
Ammirati E, Moslehi JJ
JAMA 2023 Apr 4;329(13):1098-1113. doi: 10.1001/jama.2023.3371. PMID: 37014337
Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H
Pediatr Nephrol 2019 Jul;34(7):1175-1189. Epub 2018 Jul 9 doi: 10.1007/s00467-018-3985-4. PMID: 29987460

Recent clinical studies

Etiology

Frosio A, Micaglio E, Polsinelli I, Calamaio S, Melgari D, Prevostini R, Ghiroldi A, Binda A, Carrera P, Villa M, Mastrocinque F, Presi S, Salerno R, Boccellino A, Anastasia L, Ciconte G, Ricagno S, Pappone C, Rivolta I
Int J Mol Sci 2023 Oct 11;24(20) doi: 10.3390/ijms242015089. PMID: 37894777Free PMC Article
Mori S, Hori A, Turker I, Inaji M, Bello-Pardo E, Miida T, Otomo Y, Ai T
J Am Heart Assoc 2021 May 4;10(9):e019778. Epub 2021 Apr 26 doi: 10.1161/JAHA.120.019778. PMID: 33899505Free PMC Article
Amer-Wåhlin I, Ingemarsson I, Marsal K, Herbst A
BJOG 2005 Feb;112(2):160-5. doi: 10.1111/j.1471-0528.2004.00321.x. PMID: 15663579
Zimmerman JL, Dellinger RP, Majid PA
Ann Emerg Med 1991 Jun;20(6):611-5. doi: 10.1016/s0196-0644(05)82377-7. PMID: 2039098
Lachterman B, Lehmann KG, Abrahamson D, Froelicher VF
Ann Intern Med 1990 Jan 1;112(1):11-6. doi: 10.7326/0003-4819-112-1-11. PMID: 2293816

Diagnosis

Yang S, Wang C, Zhang H, Wang J
J Electrocardiol 2024 Jul-Aug;85:16-18. Epub 2024 May 23 doi: 10.1016/j.jelectrocard.2024.05.084. PMID: 38815400
Mori S, Hori A, Turker I, Inaji M, Bello-Pardo E, Miida T, Otomo Y, Ai T
J Am Heart Assoc 2021 May 4;10(9):e019778. Epub 2021 Apr 26 doi: 10.1161/JAHA.120.019778. PMID: 33899505Free PMC Article
Amer-Wåhlin I, Ingemarsson I, Marsal K, Herbst A
BJOG 2005 Feb;112(2):160-5. doi: 10.1111/j.1471-0528.2004.00321.x. PMID: 15663579
Zimmerman JL, Dellinger RP, Majid PA
Ann Emerg Med 1991 Jun;20(6):611-5. doi: 10.1016/s0196-0644(05)82377-7. PMID: 2039098
Lachterman B, Lehmann KG, Abrahamson D, Froelicher VF
Ann Intern Med 1990 Jan 1;112(1):11-6. doi: 10.7326/0003-4819-112-1-11. PMID: 2293816

Therapy

Holmes DR Jr, Krucoff MW, Mullin C, Mikdadi G, Presser D, Wohns D, Kaplan A, Ciuffo A, Eberly AL 3rd, Iteld B, Fischell DR, Fischell T, Keenan D, John MS, Gibson CM
J Am Coll Cardiol 2019 Oct 22;74(16):2047-2055. doi: 10.1016/j.jacc.2019.07.084. PMID: 31623762
Nguyen BL, Tufano F, De Angelis S, Tersigni F, Alessandri N, Brugada P
Eur Rev Med Pharmacol Sci 2014 Oct;18(20):3115-9. PMID: 25392113
Feng H, Wang TL, Cai B
Clin Appl Thromb Hemost 2014 May;20(4):422-6. Epub 2013 Apr 23 doi: 10.1177/1076029613486018. PMID: 23615291
Amer-Wåhlin I, Ingemarsson I, Marsal K, Herbst A
BJOG 2005 Feb;112(2):160-5. doi: 10.1111/j.1471-0528.2004.00321.x. PMID: 15663579
Bairey CN, Rozanski A, Levey M, Berman DS
Am Heart J 1987 Dec;114(6):1317-23. doi: 10.1016/0002-8703(87)90531-x. PMID: 3687684

Prognosis

Mori S, Hori A, Turker I, Inaji M, Bello-Pardo E, Miida T, Otomo Y, Ai T
J Am Heart Assoc 2021 May 4;10(9):e019778. Epub 2021 Apr 26 doi: 10.1161/JAHA.120.019778. PMID: 33899505Free PMC Article
Pfirman KS, White CA, Kelil A, Modi HC
Am J Case Rep 2018 Nov 3;19:1311-1316. doi: 10.12659/AJCR.911236. PMID: 30389905Free PMC Article
Stein R, Ho M, Oliveira CM, Ribeiro JP, Lata K, Abella J, Olson H, Myers J, Froelicher V
Arq Bras Cardiol 2011 Jul;97(1):26-32. Epub 2011 May 6 doi: 10.1590/s0066-782x2011005000054. PMID: 21552647
Zimmerman JL, Dellinger RP, Majid PA
Ann Emerg Med 1991 Jun;20(6):611-5. doi: 10.1016/s0196-0644(05)82377-7. PMID: 2039098
Lachterman B, Lehmann KG, Abrahamson D, Froelicher VF
Ann Intern Med 1990 Jan 1;112(1):11-6. doi: 10.7326/0003-4819-112-1-11. PMID: 2293816

Clinical prediction guides

Mori S, Hori A, Turker I, Inaji M, Bello-Pardo E, Miida T, Otomo Y, Ai T
J Am Heart Assoc 2021 May 4;10(9):e019778. Epub 2021 Apr 26 doi: 10.1161/JAHA.120.019778. PMID: 33899505Free PMC Article
Feng H, Wang TL, Cai B
Clin Appl Thromb Hemost 2014 May;20(4):422-6. Epub 2013 Apr 23 doi: 10.1177/1076029613486018. PMID: 23615291
Amer-Wåhlin I, Ingemarsson I, Marsal K, Herbst A
BJOG 2005 Feb;112(2):160-5. doi: 10.1111/j.1471-0528.2004.00321.x. PMID: 15663579
Yasuda M, Nakazato Y, Yamashita H, Sekita G, Kawano Y, Mineda Y, Nakazato K, Tokano T, Sumiyoshi M, Nakata Y
Heart 2001 Jan;85(1):E3. doi: 10.1136/heart.85.1.e3. PMID: 11119481Free PMC Article
Lachterman B, Lehmann KG, Abrahamson D, Froelicher VF
Ann Intern Med 1990 Jan 1;112(1):11-6. doi: 10.7326/0003-4819-112-1-11. PMID: 2293816

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