U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome

MedGen UID:
356961
•Concept ID:
C1868390
•
Disease or Syndrome
Synonyms: Facioauriculoradial dysplasia; Phocomelia-ectrodactyly ear malformation deafness and sinus arrhythmia
SNOMED CT: Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (715506001); Stoll Lévy Francfort syndrome (715506001)
 
Monarch Initiative: MONDO:0008237
OMIM®: 171480
Orphanet: ORPHA2878

Definition

Rare syndrome with features of phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients from two unrelated families. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPhocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
Follow this link to review classifications for Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome in Orphanet.

Professional guidelines

PubMed

2023 ACC/AHA/ACCP/HRS Guideline for the Diagnosis and Management of Atrial Fibrillation: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.
Joglar JA, Chung MK, Armbruster AL, Benjamin EJ, Chyou JY, Cronin EM, Deswal A, Eckhardt LL, Goldberger ZD, Gopinathannair R, Gorenek B, Hess PL, Hlatky M, Hogan G, Ibeh C, Indik JH, Kido K, Kusumoto F, Link MS, Linta KT, Marcus GM, McCarthy PM, Patel N, Patton KK, Perez MV, Piccini JP, Russo AM, Sanders P, Streur MM, Thomas KL, Times S, Tisdale JE, Valente AM, Van Wagoner DR; Peer Review Committee Members
Circulation 2024 Jan 2;149(1):e1-e156. Epub 2023 Nov 30 doi: 10.1161/CIR.0000000000001193. PMID: 38033089
Diagnosis, management and therapeutic strategies for congenital long QT syndrome.
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
Review of the Diagnosis and Treatment of Periodic Paralysis.
Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC
Muscle Nerve 2018 Apr;57(4):522-530. Epub 2017 Nov 29 doi: 10.1002/mus.26009. PMID: 29125635Free PMC Article

Recent clinical studies

Etiology

Management of Ventricular Arrhythmias Worldwide: Comparison of the Latest ESC, AHA/ACC/HRS, and CCS/CHRS Guidelines.
Könemann H, Ellermann C, Zeppenfeld K, Eckardt L
JACC Clin Electrophysiol 2023 May;9(5):715-728. Epub 2023 Feb 22 doi: 10.1016/j.jacep.2022.12.008. PMID: 37225314
2023 HRS expert consensus statement on the management of arrhythmias during pregnancy.
Joglar JA, Kapa S, Saarel EV, Dubin AM, Gorenek B, Hameed AB, Lara de Melo S, Leal MA, Mondésert B, Pacheco LD, Robinson MR, Sarkozy A, Silversides CK, Spears D, Srinivas SK, Strasburger JF, Tedrow UB, Wright JM, Zelop CM, Zentner D
Heart Rhythm 2023 Oct;20(10):e175-e264. Epub 2023 May 19 doi: 10.1016/j.hrthm.2023.05.017. PMID: 37211147
HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013.
Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, Brugada J, Chiang CE, Huikuri H, Kannankeril P, Krahn A, Leenhardt A, Moss A, Schwartz PJ, Shimizu W, Tomaselli G, Tracy C
Heart Rhythm 2013 Dec;10(12):1932-63. Epub 2013 Aug 30 doi: 10.1016/j.hrthm.2013.05.014. PMID: 24011539
Rhabdomyolysis: a review of the literature.
Khan FY
Neth J Med 2009 Oct;67(9):272-83. PMID: 19841484
Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report.
Brugada P, Brugada J
J Am Coll Cardiol 1992 Nov 15;20(6):1391-6. doi: 10.1016/0735-1097(92)90253-j. PMID: 1309182

Diagnosis

2023 HRS expert consensus statement on the management of arrhythmias during pregnancy.
Joglar JA, Kapa S, Saarel EV, Dubin AM, Gorenek B, Hameed AB, Lara de Melo S, Leal MA, Mondésert B, Pacheco LD, Robinson MR, Sarkozy A, Silversides CK, Spears D, Srinivas SK, Strasburger JF, Tedrow UB, Wright JM, Zelop CM, Zentner D
Heart Rhythm 2023 Oct;20(10):e175-e264. Epub 2023 May 19 doi: 10.1016/j.hrthm.2023.05.017. PMID: 37211147
Latent Causes of Sudden Cardiac Arrest.
Krahn AD, Tfelt-Hansen J, Tadros R, Steinberg C, Semsarian C, Han HC
JACC Clin Electrophysiol 2022 Jun;8(6):806-821. doi: 10.1016/j.jacep.2021.12.014. PMID: 35738861
Fetal and Neonatal Arrhythmias.
Jaeggi E, Öhman A
Clin Perinatol 2016 Mar;43(1):99-112. doi: 10.1016/j.clp.2015.11.007. PMID: 26876124
Cardiac Arrhythmias: Diagnosis, Symptoms, and Treatments.
Fu DG
Cell Biochem Biophys 2015 Nov;73(2):291-296. doi: 10.1007/s12013-015-0626-4. PMID: 25737133
Rhabdomyolysis: a review of the literature.
Khan FY
Neth J Med 2009 Oct;67(9):272-83. PMID: 19841484

Therapy

2023 HRS expert consensus statement on the management of arrhythmias during pregnancy.
Joglar JA, Kapa S, Saarel EV, Dubin AM, Gorenek B, Hameed AB, Lara de Melo S, Leal MA, Mondésert B, Pacheco LD, Robinson MR, Sarkozy A, Silversides CK, Spears D, Srinivas SK, Strasburger JF, Tedrow UB, Wright JM, Zelop CM, Zentner D
Heart Rhythm 2023 Oct;20(10):e175-e264. Epub 2023 May 19 doi: 10.1016/j.hrthm.2023.05.017. PMID: 37211147
Gene therapy for inherited arrhythmias.
Bezzerides VJ, Prondzynski M, Carrier L, Pu WT
Cardiovasc Res 2020 Jul 15;116(9):1635-1650. doi: 10.1093/cvr/cvaa107. PMID: 32321160Free PMC Article
Fetal and Neonatal Arrhythmias.
Jaeggi E, Öhman A
Clin Perinatol 2016 Mar;43(1):99-112. doi: 10.1016/j.clp.2015.11.007. PMID: 26876124
Cardiac Arrhythmias: Diagnosis, Symptoms, and Treatments.
Fu DG
Cell Biochem Biophys 2015 Nov;73(2):291-296. doi: 10.1007/s12013-015-0626-4. PMID: 25737133
Role of the autonomic nervous system in modulating cardiac arrhythmias.
Shen MJ, Zipes DP
Circ Res 2014 Mar 14;114(6):1004-21. doi: 10.1161/CIRCRESAHA.113.302549. PMID: 24625726

Prognosis

Inherited arrhythmia syndrome predisposing to sudden cardiac death.
Kim YG, Oh SK, Choi HY, Choi JI
Korean J Intern Med 2021 May;36(3):527-538. Epub 2021 Mar 26 doi: 10.3904/kjim.2020.481. PMID: 33092314Free PMC Article
Obstructive sleep apnea and arrhythmia: A systemic review.
Patel N, Donahue C, Shenoy A, Patel A, El-Sherif N
Int J Cardiol 2017 Feb 1;228:967-970. Epub 2016 Nov 9 doi: 10.1016/j.ijcard.2016.11.137. PMID: 27914359
The spectrum of epidemiology underlying sudden cardiac death.
Hayashi M, Shimizu W, Albert CM
Circ Res 2015 Jun 5;116(12):1887-906. doi: 10.1161/CIRCRESAHA.116.304521. PMID: 26044246Free PMC Article
Inherited arrhythmia syndromes.
Wilde AA, Tan HL
Circ J 2007;71 Suppl A:A12-9. doi: 10.1253/circj.71.a12. PMID: 17587734
Idiopathic ventricular tachycardia.
Altemose GT, Buxton AE
Annu Rev Med 1999;50:159-77. doi: 10.1146/annurev.med.50.1.159. PMID: 10073270

Clinical prediction guides

Fetal Arrhythmia Diagnosis and Pharmacologic Management.
Strasburger JF, Eckstein G, Butler M, Noffke P, Wacker-Gussmann A
J Clin Pharmacol 2022 Sep;62 Suppl 1(Suppl 1):S53-S66. doi: 10.1002/jcph.2129. PMID: 36106782Free PMC Article
Electromechanical reciprocity and arrhythmogenesis in long-QT syndrome and beyond.
Odening KE, van der Linde HJ, Ackerman MJ, Volders PGA, Ter Bekke RMA
Eur Heart J 2022 Aug 21;43(32):3018-3028. doi: 10.1093/eurheartj/ehac135. PMID: 35445703Free PMC Article
Brugada syndrome: update and future perspectives.
Marsman EMJ, Postema PG, Remme CA
Heart 2022 May;108(9):668-675. Epub 2021 Oct 14 doi: 10.1136/heartjnl-2020-318258. PMID: 34649929
Update to Practice Standards for Electrocardiographic Monitoring in Hospital Settings: A Scientific Statement From the American Heart Association.
Sandau KE, Funk M, Auerbach A, Barsness GW, Blum K, Cvach M, Lampert R, May JL, McDaniel GM, Perez MV, Sendelbach S, Sommargren CE, Wang PJ; American Heart Association Council on Cardiovascular and Stroke Nursing; Council on Clinical Cardiology; and Council on Cardiovascular Disease in the Young
Circulation 2017 Nov 7;136(19):e273-e344. Epub 2017 Oct 3 doi: 10.1161/CIR.0000000000000527. PMID: 28974521
Brugada syndrome.
Brugada R, Campuzano O, Sarquella-Brugada G, Brugada J, Brugada P
Methodist Debakey Cardiovasc J 2014 Jan-Mar;10(1):25-8. doi: 10.14797/mdcj-10-1-25. PMID: 24932359Free PMC Article

Recent systematic reviews

Cardiac Toxicity Associated with Immune Checkpoint Inhibitors: A Systematic Review.
Cozma A, Sporis ND, Lazar AL, Buruiana A, Ganea AM, Malinescu TV, Berechet BM, Fodor A, Sitar-Taut AV, Vlad VC, Negrean V, Orasan OH
Int J Mol Sci 2022 Sep 19;23(18) doi: 10.3390/ijms231810948. PMID: 36142866Free PMC Article
Myocarditis in systemic immune-mediated diseases: Prevalence, characteristics and prognosis. A systematic review.
Cheng CY, Baritussio A, Giordani AS, Iliceto S, Marcolongo R, Caforio ALP
Autoimmun Rev 2022 Apr;21(4):103037. Epub 2022 Jan 5 doi: 10.1016/j.autrev.2022.103037. PMID: 34995763
CONGENITAL LONG QT SYNDROME: A SYSTEMATIC REVIEW.
Galić E, Bešlić P, Kilić P, Planinić Z, Pašalić A, Galić I, Ćubela VV, Pekić P
Acta Clin Croat 2021 Dec;60(4):739-748. doi: 10.20471/acc.2021.60.04.22. PMID: 35734489Free PMC Article
Intravenous haloperidol: A systematic review of side effects and recommendations for clinical use.
Beach SR, Gross AF, Hartney KE, Taylor JB, Rundell JR
Gen Hosp Psychiatry 2020 Nov-Dec;67:42-50. Epub 2020 Aug 22 doi: 10.1016/j.genhosppsych.2020.08.008. PMID: 32979582
Society for maternal-fetal medicine (SMFM) clinical guideline #7: nonimmune hydrops fetalis.
Society for Maternal-Fetal Medicine (SMFM), Norton ME, Chauhan SP, Dashe JS
Am J Obstet Gynecol 2015 Feb;212(2):127-39. Epub 2014 Dec 31 doi: 10.1016/j.ajog.2014.12.018. PMID: 25557883

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...