Case#: A 29 years old male DCM patient

DiseaseAssertion:Familial dilated cardiomyopathy (FDCM), associated with the TNNT2 gene missense variant p.Arg144Trp (R144W)

FamilyInfo: Family members had revealed its presence in three other individuals with DCM. A history of sudden cardiac deaths (SCD) in the family. Two individuals in the family, who were diagnosed with DCM, had died due to severe congestive heart failure at the age of 45 and 25 years. However, a 66-year-old individual in the same family with DCM having mild symptoms.

ParentalTesting:NR

CasePresentingHPOs: HP:0001644, HP:4000141, HP:0012664, HP:0004308, HP:0012828, HP:0001653

CaseHPOFreeText: Dilated cardiomyopathy with left ventricular dilation, Age of onset, 25, left ventricular internal diastolic dimension of 72mm, reduced ejection fraction of 26%, has Ventricular arrhythmia, severe mitral regurgitation.

CaseNotHPOs:NR

CaseNotHPOFreeText: NR

CasePreviousTesting:NR

Genotyping Method: Used PCR with GenBank No. NM_000364, then followed by mutation subsequent screening analysis

FunctionalAnalysis:The R144W mutation was found to be within the tropomyosin-binding domain of cTnT and alters the charge of the residue, so it is expected to have a significant impact on the structure and function of the protein. The novel unique/private R144W mutation identified in our present study is associated with FDCM

Variant:NM_001276345.2:c.445C>T

ClinVar:43640

CAID:CA004505

gnomAD: gnomAD v2: 1:201333470 G / A https://gnomad.broadinstitute.org/variant/1-201333470-G-A?dataset=gnomad_r2_1 gnomAD v4: chr1-201364342-G-A https://gnomad.broadinstitute.org/variant/chr1-201364342-G-A?dataset=gnomad_r4

AdditionalInfo:25 bp deletion was found to be associated with both HCM and DCM in India and south Asia