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Sinoatrial node dysfunction and deafness(SANDD)

MedGen UID:
766932
Concept ID:
C3554018
Disease or Syndrome
Synonym: SANDD
SNOMED CT: Sinoatrial node dysfunction and deafness (770784003)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): CACNA1D (3p21.1)
 
Monarch Initiative: MONDO:0013960
OMIM®: 614896
Orphanet: ORPHA324321

Definition

Patients with sinoatrial node dysfunction and deafness have congenital severe to profound deafness without vestibular dysfunction, associated with episodic syncope due to intermittent pronounced bradycardia (Baig et al., 2011). See Jervell and Lange-Nielsen syndrome (220400) for discussion of another deafness syndrome with impaired cardiac conduction. [from OMIM]

Clinical features

From HPO
Syncope
MedGen UID:
21443
Concept ID:
C0039070
Sign or Symptom
Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
Bradycardia
MedGen UID:
140901
Concept ID:
C0428977
Finding
A slower than normal heart rate (in adults, slower than 60 beats per minute).
Abnormal QRS complex
MedGen UID:
1370423
Concept ID:
C4476580
Finding
An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram.
Increased heart rate variability
MedGen UID:
1644626
Concept ID:
C4703581
Finding
Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSinoatrial node dysfunction and deafness
Follow this link to review classifications for Sinoatrial node dysfunction and deafness in Orphanet.

Recent clinical studies

Etiology

Mesirca P, Bidaud I, Mangoni ME
J Physiol 2016 Oct 15;594(20):5869-5879. Epub 2016 Aug 2 doi: 10.1113/JP270678. PMID: 27374078Free PMC Article

Diagnosis

Lin XF, Luo JW, Liu G, Zhu YB, Jin Z, Lin X
Mol Med Rep 2018 Nov;18(5):4271-4280. Epub 2018 Sep 5 doi: 10.3892/mmr.2018.9455. PMID: 30221713Free PMC Article
Niedermayr K, Pölzl G, Scholl-Bürgi S, Fauth C, Schweigmann U, Haberlandt E, Albrecht U, Zlamy M, Sperl W, Mayr JA, Karall D
Congenit Heart Dis 2018 Sep;13(5):671-677. Epub 2018 Aug 21 doi: 10.1111/chd.12634. PMID: 30133155
Stockner T, Koschak A
Biochim Biophys Acta 2013 Jul;1828(7):1598-607. Epub 2012 Dec 4 doi: 10.1016/j.bbamem.2012.11.026. PMID: 23219801Free PMC Article

Prognosis

Liaqat K, Schrauwen I, Raza SI, Lee K, Hussain S, Chakchouk I, Nasir A, Acharya A, Abbe I, Umair M, Ansar M, Ullah I, Shah K; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Ahmad W, Leal SM
J Hum Genet 2019 Feb;64(2):153-160. Epub 2018 Nov 30 doi: 10.1038/s10038-018-0542-8. PMID: 30498240Free PMC Article
Niedermayr K, Pölzl G, Scholl-Bürgi S, Fauth C, Schweigmann U, Haberlandt E, Albrecht U, Zlamy M, Sperl W, Mayr JA, Karall D
Congenit Heart Dis 2018 Sep;13(5):671-677. Epub 2018 Aug 21 doi: 10.1111/chd.12634. PMID: 30133155

Clinical prediction guides

Rinné S, Stallmeyer B, Pinggera A, Netter MF, Matschke LA, Dittmann S, Kirchhefer U, Neudorf U, Opp J, Striessnig J, Decher N, Schulze-Bahr E
Int J Mol Sci 2022 Nov 17;23(22) doi: 10.3390/ijms232214215. PMID: 36430690Free PMC Article
Liaqat K, Schrauwen I, Raza SI, Lee K, Hussain S, Chakchouk I, Nasir A, Acharya A, Abbe I, Umair M, Ansar M, Ullah I, Shah K; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Ahmad W, Leal SM
J Hum Genet 2019 Feb;64(2):153-160. Epub 2018 Nov 30 doi: 10.1038/s10038-018-0542-8. PMID: 30498240Free PMC Article
Lin XF, Luo JW, Liu G, Zhu YB, Jin Z, Lin X
Mol Med Rep 2018 Nov;18(5):4271-4280. Epub 2018 Sep 5 doi: 10.3892/mmr.2018.9455. PMID: 30221713Free PMC Article

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