Case#: II.3, 30-year-old man from an Indian family.

DiseaseAssertion: Familial hypertrophic cardiomyopathy.

FamilyInfo: Figure 1A. His father (I.1), brother (II.1), and sister (II.2) had HCM and carried TPM1 p.Gln68Arg. His mother (I.2) had a normal echocardiogram and tested negative for the variant. The authors report autosomal dominant segregation.

ParentalTesting: Father positive for TPM1 p.Gln68Arg. Mother negative.

CasePresentingHPOs: HP:0001639, HP:0001712, HP:0005144, HP:0031656, HP:0001653, HP:0010872, HP:4000004

CaseHPOFreeText: Echo showed asymmetric septal hypertrophy and trivial mitral regurgitation. The interventricular septum measured 2.1 cm and the left ventricular posterior wall measured 1.2 cm. ECG showed a left ventricular hypertrophy strain pattern with T-wave inversions in leads II, III, aVF, and V2–V6. Cardiac MRI showed patchy STIR hyperintensity and late gadolinium enhancement in the thickened septum.

CaseNotHPOs: HP:0000822 (no history of hypertension), HP:0032092 (no left ventricular outflow tract obstruction at rest)

CaseNotHPOFreeText: Asymptomatic at presentation. Both atria and the right ventricle were normal in size and function. Left ventricular ejection fraction was 63%.

CasePreviousTesting: NR (prior genetic testing details not available in the article).

Genotyping Method: Custom targeted amplicon sequencing panel of nine sarcomeric genes on the Ion Torrent PGM. Sanger sequencing confirmed the TPM1 variant.

FunctionalAnalysis: NR (functional assay results not available in the article).

Variant: NM_001018005.2(TPM1).203A>G (p.Gln68Arg), heterozygous.

ClinVar: 1490086

CAID: NR (CAID not listed in the article).

gnomAD: No variant record found in gnomAD v4.1 for 15-63044115-A-G.

AdditionalInfo: PMID 38223010. Figure 1A identifies the proband and shows the pedigree. Figures 1B–D show cardiac imaging. Figure 1E shows Sanger sequencing. Figure 1F shows conservation of the affected residue. The authors also report computational predictions of a damaging effect.