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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.
Insights
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.
Abstract:
We report the case of apical ballooning syndrome (ABS) in a female sibling. A 64-year-old woman was admitted to our hospital with sudden-onset chest pain. Cardiac enzymes were mildly elevated and an electrocardiogram showed broad ST-T changes. Emergency coronary angiography revealed no culprit lesion and left ventriculography demonstrated focal akinesis of the apical wall, which was consistent with ABS. Myocardial functional sympathetic innervations assessed using [(123)I]metaiodobenzylguanidine was severely impaired in the apical region. Her clinical symptoms and cardiac dysfunction recovered spontaneously. Just 1 year prior to our patient's cardiac event, her elder sister had the same symptoms and was also diagnosed with ABS. Both sisters were postmenopausal. The familial case of ABS is exceedingly rare, but these cases suggest a possible genetic etiology.
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