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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Takotsubo cardiomyopathy in siblings
Masayasu Ikutomi1, Masao Yamasaki, Masashiro Matsusita
1NTT Medical Center, 5-9-22 Higashi-Gotanda, Shinagawa-ku, Tokyo, 141-8625, Japan, mikutomi@gmail.com.
Heart and Vessels
|April 9, 2013
Summary
Apical ballooning syndrome (ABS), also known as stress-induced cardiomyopathy, occurred in two sisters, suggesting a potential genetic link. This rare familial occurrence highlights the need for further investigation into the genetic factors of ABS.
Area of Science:
- Cardiology
- Genetics
- Internal Medicine
Background:
- Apical ballooning syndrome (ABS), or stress-induced cardiomyopathy, is an acute cardiac condition.
- It is characterized by transient left ventricular dysfunction, typically in postmenopausal women.
Observation:
- A 64-year-old woman presented with chest pain, ECG changes, and apical akinesis consistent with ABS.
- Myocardial sympathetic denervation was observed in the apical region using [(123)I]metaiodobenzylguanidine.
- Her elder sister had been diagnosed with ABS one year prior.
Findings:
- This represents a rare familial case of apical ballooning syndrome.
- Both affected individuals were postmenopausal females.
- The co-occurrence in siblings suggests a possible genetic predisposition.
Implications:
- Familial cases of ABS are exceedingly rare, prompting further research into genetic etiologies.
- Understanding genetic factors may aid in predicting susceptibility and developing targeted therapies for ABS.
- This case underscores the importance of considering familial patterns in the diagnosis and management of stress-induced cardiomyopathy.
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