Broken rib, thick heart: incidental diagnosis of hypertrophic cardiomyopathy after an accidental fall. The role of multimodaly imaging.

Presenting Author(s)

• 

  Guadalupe Adauto Quispe, MD

  Doctora
  Hospital Clinico San Carlos
  Lima, Lima, Peru

Primary Author(s)

• 

  Guadalupe Adauto Quispe, MD

  Doctora
  Hospital Clinico San Carlos
  Lima, Lima, Peru

Co-Author(s)

• 

  Carito L. Zumaeta, MD

  Doctora
  Hospital Clinico San Carlos
  Lima, Lima, Peru
• 

  Sara Peralta Merelo, MD, MSc

  Cardiologist
  Hospital Clinico San Carlos
  Guayaquil , Guayas, Ecuador
• AB

  Ana Bustos Garcia de Castro, MD, PhD

  Doctora
  Hospital Clinico San Carlos
  Madrid, Madrid, Spain
• Jd

  José Alberto de Agustín

  Doctor
  Hospital Clinico San Carlos, Spain
• EM

  Eliezer Josue Munares Tipiani

  Medico Cardiologo
  Hospital Clinico San Carlos
  Madrid, Madrid, Spain
• EC

  Eddiana Colon, MD

  Cardiologist
  Hospital Clinico San Carlos, Madrid, Spain
• CD

  Cleisy Diaz

  Medico Cardiologo
  Hospital Clinico San Carlos
  Panama, Panama, Panama
• RL

  Rodrigo Leon Vivar

  Medico Cardiologo
  Hospital Clinico San Carlos, Spain
• CO

  Carmen Olmos, MD, PhD

  Doctora
  Hospital Clinico San Carlos, Spain

Description of Clinical Presentation: A 55-year-old hypertensive female, presented to the emergency room with persistent chest pain following thoracic trauma from a fall. Pain was refractory to oral anti-inflammatories. Admission revealed a left fourth rib fracture, treated surgically; no other symptoms were reported.

Electrocardiogram showed sinus bradycardia (56 bpm), normal PR interval, narrow QRS, left anterosuperior hemiblock, and diffuse repolarization abnormalities.

Diagnostic Techniques and Their Most Important Findings: Transthoracic echocardiogram identified asymmetric septal LV hypertrophy without outflow tract obstruction. Right ventricle was normal (Figure 1).

Cardiac Magnetic resonce imaging (MRI) 1.5T, SSFP, perfusion and late gadolinium enhancement (LGE) sequences, with ECG-gating, confirmed asymmetric hypertrophic cardiomyopathy affecting septum, mid/apical inferoseptal segments, and apex (Figure 2). Focal perfusion defect at the inferior septum and non-ischemic intramyocardial LGE in anterior/inferior septum and septal/apical segments were noted (Figure 3). Biventricular function was preserved.

Native global T1 mapping was mildly elevated, with higher values at areas of LGE (Figure 3). Genetic study demonstrated a likely pathogenic MYBPC3 variant.

Learning Points from this Case: A septal wall thickness >15 mm on echocardiography prompted suspicion of hypertrophic cardiomyopathy (HCM), corroborated by CMR and genetic testing.

Many individuals are asymptomatic, detected incidentally, as in this clinical case. Thorough cardiac and family history (≥3 generations) is key to identify HCM or unexplained deaths.



CMR plays a pivotal role for diagnosis and risk stratification in this setting. It provided an accurate measurement of wall thickness, and revealed the presence of patchy pathological LGE intramiocardial within the hypertrophied segments. Tissue characterization with T1 mapping further helped to differentiate HCM from hypertensive heart diasese.



SCD-HCM risk was < 5%; thus, annual imaging and clinical assessment was scheduled, and genetic screening for family was recommended.

A case of incidentally detected hypertrophic cardiomyopathy without LV outflow tract obstruction is presented. Thorough history is vital for etiological diagnosis and recognizing frequent symptoms like syncope. Multimodal imaging, particularly CMR, are critical for diagnosis, prognosis, and screening.

Figure 1: Transthoracic echocardiogram. (A) Parasternal long-axis, (B) four-chamber view, (C) short-axis at the mitral valve level, (D) five-chamber view with color Doppler at the aortic valve. The study shows asymmetric septal left ventricular hypertrophy without outflow tract obstruction.
Figure 2: SSFP CMR sequences at end-diastole. (A) Four-chamber view, (B) short-axis, (C) three-chamber view, (D) two-chamber view. The study shows septal-dominant left ventricular hypertrophy, with a maximal wall thickness of 19 mm at the mid inferoseptal segment.
Figure 3: LGE sequences in four-chamber (a), three-chamber (b), two-chamber (c), and short-axis (d) views show intramyocardial LGE in the inferior septum. Perfusion sequence (e) shows a focal perfusion defect at the inferior septum. Native T1 mapping (f) demonstrates higher values in the inferoseptal area (1204 ms) compared to the global average (1042 ms).