Atypical presentation of Andersen-Tawil syndrome: heart failure with reduced ejection without periodic paralysis or dysmorphic features
Background: Andersen-Tawil syndrome (ATS) is a rare autosomal dominant disorder caused by variants in the KCNJ2 gene. It is associated with periodic paralysis, dysmorphic features and cardiac arrhythmias. The syndrome exhibits incomplete penetrance, leading to a broad spectrum of clinical manifestat...
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SMC MEDIA SRL
2024-12-01
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| Series: | European Journal of Case Reports in Internal Medicine |
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| Online Access: | https://www.ejcrim.com/index.php/EJCRIM/article/view/5029 |
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| author | Mustafa Shehzad Dawood Shehzad Muhammad Ahmad Sundus Huma Shaheer Minhas Abdul Wassey |
| author_facet | Mustafa Shehzad Dawood Shehzad Muhammad Ahmad Sundus Huma Shaheer Minhas Abdul Wassey |
| author_sort | Mustafa Shehzad |
| collection | DOAJ |
| description | Background: Andersen-Tawil syndrome (ATS) is a rare autosomal dominant disorder caused by variants in the KCNJ2 gene. It is associated with periodic paralysis, dysmorphic features and cardiac arrhythmias. The syndrome exhibits incomplete penetrance, leading to a broad spectrum of clinical manifestations, making diagnosis challenging.
Case description: A male in his mid-20s with class 3 obesity presented to the emergency department with a week-long history of worsening chest pain, orthopnoea and fatigue. His family history was significant for sudden cardiac death affecting both his mother and brother, with his father having died from complications of Wolff-Parkinson-White syndrome. Cardiovascular examination revealed an S3 heart sound and elevated brain natriuretic peptide levels at 875 pg/ml, with undetectable troponins; potassium level on admission was 3.6 mEq/l. An electrocardiogram showed normal sinus rhythm, first-degree heart block, left atrial enlargement, left bundle branch block and a prolonged QTc of 486 ms. A transthoracic echocardiogram demonstrated a 15-20% reduction in ejection fraction with global left ventricular hypokinesis and left atrial enlargement. Ultimately, he was diagnosed with non-ischaemic dilated cardiomyopathy and referred for genetic testing, which revealed a KCNJ2 variant. Shortly after discharge, he experienced a 55-second run of ventricular tachycardia, necessitating the placement of a single-chamber ICD. Currently, the patient remains on guideline-directed medical therapy and is listed for a heart transplant.
Conclusions: Dilated cardiomyopathy, although a rare manifestation in ATS, can profoundly increase the risk of fatal arrythmias, necessitating the need for a low threshold of suspicion, to ensure timely diagnosis and management. |
| format | Article |
| id | doaj-art-c817e275158144f58b1a146c2c2634cb |
| institution | Kabale University |
| issn | 2284-2594 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | SMC MEDIA SRL |
| record_format | Article |
| series | European Journal of Case Reports in Internal Medicine |
| spelling | doaj-art-c817e275158144f58b1a146c2c2634cb2025-01-07T13:40:28ZengSMC MEDIA SRLEuropean Journal of Case Reports in Internal Medicine2284-25942024-12-0110.12890/2024_0050294564Atypical presentation of Andersen-Tawil syndrome: heart failure with reduced ejection without periodic paralysis or dysmorphic featuresMustafa Shehzad0Dawood Shehzad1Muhammad Ahmad2Sundus Huma3Shaheer Minhas4Abdul Wassey5Internal Medicine, Hackensack University Medical Center, Hackensack, USAInternal Medicine, University of South Dakota, Sioux Falls, USADepartment of Medicine, Khyber Medical College, Peshawar, PakistanDepartment of Medicine, Khyber Medical College, Peshawar, PakistanInternal Medicine, Holy Family Hospital, Rawalpindi, PakistanInternal Medicine, Holy Family Hospital, Rawalpindi, PakistanBackground: Andersen-Tawil syndrome (ATS) is a rare autosomal dominant disorder caused by variants in the KCNJ2 gene. It is associated with periodic paralysis, dysmorphic features and cardiac arrhythmias. The syndrome exhibits incomplete penetrance, leading to a broad spectrum of clinical manifestations, making diagnosis challenging. Case description: A male in his mid-20s with class 3 obesity presented to the emergency department with a week-long history of worsening chest pain, orthopnoea and fatigue. His family history was significant for sudden cardiac death affecting both his mother and brother, with his father having died from complications of Wolff-Parkinson-White syndrome. Cardiovascular examination revealed an S3 heart sound and elevated brain natriuretic peptide levels at 875 pg/ml, with undetectable troponins; potassium level on admission was 3.6 mEq/l. An electrocardiogram showed normal sinus rhythm, first-degree heart block, left atrial enlargement, left bundle branch block and a prolonged QTc of 486 ms. A transthoracic echocardiogram demonstrated a 15-20% reduction in ejection fraction with global left ventricular hypokinesis and left atrial enlargement. Ultimately, he was diagnosed with non-ischaemic dilated cardiomyopathy and referred for genetic testing, which revealed a KCNJ2 variant. Shortly after discharge, he experienced a 55-second run of ventricular tachycardia, necessitating the placement of a single-chamber ICD. Currently, the patient remains on guideline-directed medical therapy and is listed for a heart transplant. Conclusions: Dilated cardiomyopathy, although a rare manifestation in ATS, can profoundly increase the risk of fatal arrythmias, necessitating the need for a low threshold of suspicion, to ensure timely diagnosis and management.https://www.ejcrim.com/index.php/EJCRIM/article/view/5029andersen-tawil syndromelong qt syndromekcnj2periodic paralysis |
| spellingShingle | Mustafa Shehzad Dawood Shehzad Muhammad Ahmad Sundus Huma Shaheer Minhas Abdul Wassey Atypical presentation of Andersen-Tawil syndrome: heart failure with reduced ejection without periodic paralysis or dysmorphic features European Journal of Case Reports in Internal Medicine andersen-tawil syndrome long qt syndrome kcnj2 periodic paralysis |
| title | Atypical presentation of Andersen-Tawil syndrome: heart failure with reduced ejection without periodic paralysis or dysmorphic features |
| title_full | Atypical presentation of Andersen-Tawil syndrome: heart failure with reduced ejection without periodic paralysis or dysmorphic features |
| title_fullStr | Atypical presentation of Andersen-Tawil syndrome: heart failure with reduced ejection without periodic paralysis or dysmorphic features |
| title_full_unstemmed | Atypical presentation of Andersen-Tawil syndrome: heart failure with reduced ejection without periodic paralysis or dysmorphic features |
| title_short | Atypical presentation of Andersen-Tawil syndrome: heart failure with reduced ejection without periodic paralysis or dysmorphic features |
| title_sort | atypical presentation of andersen tawil syndrome heart failure with reduced ejection without periodic paralysis or dysmorphic features |
| topic | andersen-tawil syndrome long qt syndrome kcnj2 periodic paralysis |
| url | https://www.ejcrim.com/index.php/EJCRIM/article/view/5029 |
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