{
    "abstract": "A woman in her 40s was admitted following syncope. The 12-lead ECG showed atrial fibrillation with slow ventricular response and suspected complete atrioventricular (AV) block. Cardiac monitoring demonstrated non-sustained monomorphic ventricular tachycardia (VT). Her medical history included surgical repair of an atrial septal defect (ASD) aged 4 years. The patient's mother died suddenly in her early 50s and also had an ASD. Given the patient's syncope, background of familial sudden cardiac death (SCD), suspicion of complete AV block and non-sustained VT, she received an implantable cardiac defibrillator (ICD). She underwent genetic testing, revealing a heterozygous NKX2-5 genetic mutation. The signature phenotype in NKX2-5 mutations is ASD with AV conduction disturbance and an increased risk of SCD secondary to ventricular arrhythmias or severe bradycardia. SCD has been described in NKX2-5 mutation carriers despite functioning permanent pacemakers (PPMs). Therefore, we propose implantation of a preventive ICD, as opposed to a PPM.",
    "authors": [
        {
            "affiliation": "Cardiology, Bristol Heart Institute, Bristol, UK amedany@doctors.org.uk.\nCardiology, Southmead Hospital, Bristol, UK.",
            "firstname": "Ahmed",
            "initials": "A",
            "lastname": "El-Medany"
        },
        {
            "affiliation": "Cardiology, Southmead Hospital, Bristol, UK.",
            "firstname": "Shahid",
            "initials": "S",
            "lastname": "Aziz"
        },
        {
            "affiliation": "Cardiology, Bristol Heart Institute, Bristol, UK.",
            "firstname": "Edward",
            "initials": "E",
            "lastname": "Duncan"
        }
    ],
    "conclusions": null,
    "copyrights": "\u00a9 BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ.",
    "doi": "10.1136/bcr-2022-252523\n10.1038/s41467-018-03714-x\n10.1016/j.jacc.2003.05.004\n10.3389/fcvm.2021.691203\n10.1111/chd.12317\n10.1016/s0092-8674(04)00405-2\n10.15171/jcvtr.2019.47\n10.1002/humu.24030\n10.1007/s00246-014-0917-3\n10.3390/genes7020006\n10.3892/ijmm.2014.2029\n10.3390/jcm11113171\n10.3892/mmr.2017.6249\n10.1016/j.jacc.2016.08.064",
    "journal": "BMJ case reports",
    "keywords": [
        "Arrhythmias",
        "Genetic screening / counselling",
        "Pacing and electrophysiology"
    ],
    "methods": null,
    "publication_date": "2023-01-08",
    "pubmed_id": "36609421\n29636455\n14607454\n34277740\n26679770\n15109497\n31824610\n32369864\n24880466\n26805889\n25503402\n35683556\n28259982\n32860028\n27884258",
    "results": null,
    "title": "NKX2-5 genetic mutation in a young woman with an atrial septal defect presenting with complete heart block: ICD or bradycardia pacemaker?",
    "xml": "<Element 'PubmedArticle' at 0x788504fbacf0>"
}