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PubMed This is a summary of 24 peer-reviewed journal articles Updated
Cardiology

Building Your Care Team and Preparing for Your First Visit

At a Glance

For sensorineural deafness with dilated cardiomyopathy, a coordinated team linking cardiology, electrophysiology, genetics, audiology, and neurotology can connect heart and hearing care. Bring complete medical records and family history to the first visit.

Managing a cardio-auditory phenotype is not something you can do with a standard “one doctor” approach. Because these conditions affect two of the body’s most complex systems, you need a multidisciplinary team—a group of specialists who talk to each other to coordinate your care [1][2].

Building this team is about more than just finding doctors; it is about creating a “medical home” where your heart health and hearing are managed as two parts of a single story [3]. These roles can often be assembled locally or through telehealth referrals; you do not necessarily need to live near a rare-disease center.

Your Core Specialized Team

While you may see many providers, several specialized disciplines play vital roles in managing this combination of symptoms:

  • Inherited-Cardiomyopathy Specialist & Electrophysiologist: This is a cardiologist who specializes in heart failure and the genetic causes of heart disease [4]. Unlike a general cardiologist, they are trained to look for the subtle patterns of dilated cardiomyopathy (DCM) that appear in rare syndromes [5]. You will also likely see an electrophysiologist, who specializes in the heart’s electrical rhythms and manages devices.
  • Medical Geneticist & Genetic Counselor: These experts help interpret your genetic sequencing panels. They are the ones who determine what your findings mean and what that means for your family members [3][6].
  • Audiologist & Neurotologist: An audiologist measures hearing, while a neurotologist is an ENT doctor specializing in the complex structures of the inner ear. If you are considering a cochlear implant, you will need a team with specific expertise in “syndromic deafness” [1][7].
  • Essential Support: A primary care clinician, a heart-failure nurse, a speech-language pathologist, and a social worker play crucial roles in care coordination and communication access.

Depending on your specific diagnosis—such as Alström syndrome—you may also need to add an ophthalmologist (eye specialist) and a nephrologist (kidney specialist) to your core group [8][9].

Your First Visit Toolkit

When you walk into your first appointment, your doctor shouldn’t just be looking at you—they should be looking at your data. Collecting these records in advance saves months of “wait-and-see” time [10]. Ensure you have physical or digital copies of:

  1. Cardiology Records: Your most recent 12-lead ECG (to check heart rhythm), an echocardiogram (the ultrasound that measures your ejection fraction), and any cardiac MRI images on a disc [4][11].
  2. Audiology Records: A full pure-tone audiometry report (the “beeps” test) and any speech recognition scores. If you have had an ABR (Auditory Brainstem Response) test or imaging of the internal auditory canal, bring those as well [12][13].
  3. The Full Genetic Report: Do not just bring a summary. Bring the complete laboratory report, which includes technical details like variant classification (whether it is pathogenic or a variant of uncertain significance), coverage, and heteroplasmy levels (how much of the mutation is present in your cells) [14][15].

Mapping Your Family History

A pedigree is a medical family tree that tracks health issues across three generations. In genetic counseling, this is one of the most powerful diagnostic tools available [16]. When mapping your family, look specifically for:

  • The “Hearing + Heart” Connection: Is there anyone else with both symptoms? If so, are they all on the mother’s side (suggesting a mitochondrial link) or spread across both genders? [17][18]
  • Sudden Events: Look for history of sudden cardiac death, early-onset heart failure (before age 50), or relatives who needed pacemakers or ICDs [4][19].
  • Other Clues: Note if any relatives have diabetes, vision loss, or developmental delays. In syndromes like DNAJC19 or Alström, these symptoms often travel together [20][8].

Vetting Your Specialists and Communicating

Not all specialists have experience with rare cardio-auditory conditions. It is helpful to ask questions of your care team to ensure they are the right fit. A specialist who is comfortable with your diagnosis will welcome your questions [21].

You should feel empowered to ask how they plan to communicate with your other doctors. For example, if you need a procedure that requires anesthesia, your cardiologist and geneticist should have a plan to protect your heart and energy-hungry mitochondria during the surgery [22][7]. If a doctor seems dismissive of the “rare” nature of your condition, it may be a sign to seek a second opinion at a major academic research center [23].

Because hearing loss is a central part of this condition, advocating for accessible care is essential. Explicitly ask your clinical team for captioning, interpreters, or written instructions so that telephone triage and complex medical discussions are fully accessible to you. Building the right team takes time, but having experts who see the “big picture” of your heart and hearing is the best way to ensure your long-term health and quality of life [3][24].

Common questions in this guide

What specialists should be on my care team for hearing loss and dilated cardiomyopathy?
Care often includes a cardiologist familiar with inherited heart muscle disease, an electrophysiologist, a medical geneticist or genetic counselor, and an audiologist or neurotologist. A primary care clinician, heart-failure nurse, speech-language pathologist, and social worker can help coordinate care. An eye or kidney specialist may be added when the suspected syndrome affects those organs.
What should I bring to my first appointment for this condition?
Bring your latest 12-lead ECG, echocardiogram, cardiac MRI images, full hearing test and speech-recognition results, and any ABR or inner-ear imaging. Also bring the complete genetic laboratory report rather than only a summary. Digital copies are useful if the clinic accepts them.
Why does the complete genetic report matter?
It shows how the laboratory classified each genetic finding, including whether it is disease-causing or uncertain. It may also include test coverage and heteroplasmy, the proportion of cells carrying a mitochondrial change. A geneticist or genetic counselor can explain what the findings may mean for your diagnosis and relatives.
How can I make appointments accessible if I have hearing loss?
Tell the clinic before the visit which accommodations you need, such as captioning, an interpreter, written instructions, or a quieter room. Ask the team to use your preferred communication method for scheduling, telephone triage, consent, and follow-up. Accessible communication helps you participate in complex heart and genetics discussions.
How should I prepare my family history for genetic counseling?
Make a three-generation family tree and record hearing loss, heart failure, fainting, sudden cardiac death, pacemakers or ICDs, diabetes, vision loss, and developmental delays. Note the age symptoms began and whether the hearing-and-heart pattern appears on the mother’s side or across both sides of the family. This can help the genetics team assess possible inheritance patterns.
Who should coordinate care across my heart and hearing specialists?
Ask which clinician will serve as the lead coordinator and how records and care plans will be shared. Primary care, a heart-failure nurse, or another designated team member may help connect cardiology, hearing, genetics, and support services. Confirm who to contact when you have a question or need a referral.

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References

References (24)
  1. 1

    Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation.

    Elander J, Ullmark T, Ehrencrona H, et al.

    International journal of pediatric otorhinolaryngology 2022; (159()):111218 doi:10.1016/j.ijporl.2022.111218.

    PMID: 35779349
  2. 2

    Evaluation of the NHS R67 Monogenic Hearing Loss Panel in a Single UK Centre.

    Sakin I, Swords C, Ball J, et al.

    Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery 2026; (51(5)):708-713 doi:10.1111/coa.70125.

    PMID: 42200350
  3. 3

    Genetics evaluation outcomes of patients with pediatric hearing loss: 2008-2022 retrospective study.

    Mazzola S, Schreiber A

    American journal of otolaryngology 2024; (45(2)):104196 doi:10.1016/j.amjoto.2023.104196.

    PMID: 38134852
  4. 4

    Role of family history and clinical screening in the identification of families with idiopathic dilated cardiomyopathy in Johannesburg, South Africa.

    Bailly C, Henriques S, Tsabedze N, Krause A

    South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2019; (109(9)):673-678 doi:10.7196/SAMJ.2019.v109i9.13936.

    PMID: 31635593
  5. 5

    Silent Ears, Failing Heart: Dilated Cardiomyopathy in an Infant With LARS2-Related Perrault Syndrome Type 4 (PRLTS4).

    Alkateb FA, Aljohani R, Alkahmous MS, Mushiba A

    Clinical genetics 2026; doi:10.1111/cge.70268.

    PMID: 42913690
  6. 6

    Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss.

    Umrigar A, Musso A, Mercer D, et al.

    SAGE open medical case reports 2017; (5()):2050313X17745904 doi:10.1177/2050313X17745904.

    PMID: 29276601
  7. 7

    Cochlear Implants in Alström Syndrome.

    Gheller F, Gallo S, Trevisi P, et al.

    The Annals of otology, rhinology, and laryngology 2020; (129(8)):833-837 doi:10.1177/0003489420903061.

    PMID: 32019320
  8. 8

    ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits.

    Hearn T

    Journal of molecular medicine (Berlin, Germany) 2019; (97(1)):1-17 doi:10.1007/s00109-018-1714-x.

    PMID: 30421101
  9. 9

    Kidney Transplantation in Alström Syndrome: Case Report.

    Poli L, Arroyo G, Garofalo M, et al.

    Transplantation proceedings 2017; (49(4)):733-735 doi:10.1016/j.transproceed.2017.02.018.

    PMID: 28457383
  10. 10

    Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic.

    Mehta D, Noon SE, Schwartz E, et al.

    American journal of medical genetics. Part A 2016; (170(10)):2523-30 doi:10.1002/ajmg.a.37855.

    PMID: 27480936
  11. 11

    The contribution of cardiopulmonary exercise testing in the familial screening for dilated and non-dilated left ventricular cardiomyopathies: case series.

    Del Mestre E, Capovilla TM, Paldino A, et al.

    European heart journal. Case reports 2025; (9(4)):ytaf162 doi:10.1093/ehjcr/ytaf162.

    PMID: 40302978
  12. 12

    Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care.

    Shearer AE, Smith RJ

    Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2015; (153(2)):175-82 doi:10.1177/0194599815591156.

    PMID: 26084827
  13. 13

    Auditory Neuropathy Spectrum Disorder in Individuals with Sickle Cell Anemia: Case Study.

    Sahu P, Barman A

    Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India 2024; (76(3)):2320-2325 doi:10.1007/s12070-024-04477-2.

    PMID: 38883506
  14. 14

    Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?

    Clabout T, Maes L, Acke F, et al.

    Genes 2022; (14(1)) doi:10.3390/genes14010105.

    PMID: 36672845
  15. 15

    Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndrome.

    Lombardo B, D'Argenio V, Monda E, et al.

    Molecular genetics & genomic medicine 2020; (8(7)):e1260 doi:10.1002/mgg3.1260.

    PMID: 32396277
  16. 16

    Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline.

    Hershberger RE, Givertz MM, Ho CY, et al.

    Journal of cardiac failure 2018; (24(5)):281-302 doi:10.1016/j.cardfail.2018.03.004.

    PMID: 29567486
  17. 17

    Family Phenotypic Heterogeneity Caused by Mitochondrial DNA Mutation A3243G.

    Alves D, Calmeiro ME, Macário C, Silva R

    Acta medica portuguesa 2017; (30(7-8)):581-585 doi:10.20344/amp.8638.

    PMID: 28926334
  18. 18

    Screening for mitochondrial 12S rRNA C1494T mutation in 655 patients with non-syndromic hearing loss: An observational study.

    Gao Z, Yuan YS

    Medicine 2020; (99(13)):e19373 doi:10.1097/MD.0000000000019373.

    PMID: 32221064
  19. 19

    Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

    Heliö K, Cicerchia M, Hathaway J, et al.

    Frontiers in cardiovascular medicine 2023; (10()):1254272 doi:10.3389/fcvm.2023.1254272.

    PMID: 37795486
  20. 20

    Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?

    Ucar SK, Mayr JA, Feichtinger RG, et al.

    JIMD reports 2017; (35()):39-45 doi:10.1007/8904_2016_23.

    PMID: 27928778
  21. 21

    Hearing Loss in Adults With Alström Syndrome-Experience From the UK National Alström Service.

    Quoraishi S, Mason G, Geberhiwot T, Dalton CL

    Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2022; (43(6)):e620-e627 doi:10.1097/MAO.0000000000003553.

    PMID: 35761454
  22. 22

    Spinal fusion with motor evoked potential monitoring using remimazolam in Alström syndrome: A case report.

    Arashiro A, Shinzato H, Kamizato K, Kakinohana M

    Medicine 2021; (100(47)):e27990 doi:10.1097/MD.0000000000027990.

    PMID: 34964794
  23. 23

    [Clinical and genetic analysis of a Chinese patient with Alström syndrome].

    Li J, Gao J, Wang L, et al.

    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024; (41(5)):596-600 doi:10.3760/cma.j.cn511374-20230401-00184.

    PMID: 38684308
  24. 24

    Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features.

    Huang Y, Wang L, Zhang Q, et al.

    Orphanet journal of rare diseases 2025; (20(1)):630 doi:10.1186/s13023-025-04139-8.

    PMID: 41466426

This page is for educational purposes and does not replace medical advice. Your cardiology, audiology, genetics, and primary care teams should tailor referrals, testing, and communication accommodations to your situation.

Guide contents Sensorineural deafness with dilated cardiomyopathy
Research & Literature
04 Treatment Options and Decisions 06 Long-Term Care and Monitoring