Familial dilated cardiomyopathy caused by a novel variant in the Lamin A/C gene: a case report
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(2020) 20:423
CASE REPORT
Open Access
Familial dilated cardiomyopathy caused by a novel variant in the Lamin A/C gene: a case report Jing Huang, Qing Wan, Yu Zou, Lijie Wang and Yesheng Pan*
Abstract Background: Familial dilated cardiomyopathy (FDCM) is most commonly inherited as an autosomal dominant trait. The Lamin A/C (LMNA) gene variants have been identified to be associated with DCM, conductive system disorders, type 2 Emery-Dreifuss muscular dystrophy and several other disorders. Here, we reported a novel variant in the LMNA gene that might be related to FDCM. Case presentation: A 30-year-old young man was hospitalized for chest tightness, extreme fatigue, palpitation and impaired activity tolerance. He had clinical characteristics including cardiac dilatation, atrial tachyarrhythmia, severe conductive system disorders, and dyskinesia of both upper limbs and the neck. Genetic sequence analysis indicated that the patient carried a novel c.1325 T>C heterozygous LMNA gene variant. Catheter ablation and cardiac resynchronization therapy with pacing function (CRT-P) were performed to treat the arrhythmia. Conclusion: The variant c.1325 T>C is a novel variant in the LMNA gene that has not been previously reported. Young patients with DCM, conductive system disorders and skeletal myopathy should be alert to the possibility of LMNA gene variant. Cardiac resynchronization therapy (CRT) may be a reasonable choice for patient carrying a LMNA gene variant with third-degree atrioventricular block even if the left ventricular ejection fraction is preserved in order to prevent the deterioration of cardiac function caused by right ventricular pacing dependency.
Background Dilated cardiomyopathy (DCM) is a common primary cardiomyopathy that is characterized by the presence of ventricular dilatation and contractile dysfunction. Familial aggregation has been observed in some cases, called familial dilated cardiomyopathy (FDCM). Up to now, dozens of pathogenic gene variants have been identified, and among them, the LMNA gene is a major diseasecausing gene [1]. Here, we reported a novel variant in the LMNA that might be related to FDCM and described its clinical features.
* Correspondence: [email protected] Department of Cardiology, Shanghai East Hospital, Shanghai Tongji University School of Medicine, No. 150 Jimo Road, Shanghai 200120, China
Case report A 30-year-old young man was hospitalized for chest tightness, extreme fatigue, palpitation and impaired activity tolerance. Laboratory examination revealed that myocardial enzymes were slightly elevated: high-sensitivity troponin T (cTnT) was 0.037 ng/ml (C (p. Val442Ala) heterozygous LMNA gene variant. Among other relatives, only the proband’s father’s brother (II-6) received genetic sequence analysis for this LMNA variant, but no variant was found
Huang et al. BMC Cardiovascular Disorders
(2020) 20:423
DCM associated with LMNA variants results in a high sudden death rate, poor prognosis, age dependency (the average onset age is 33 years old), and high rates of maj
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