Siblings With Familial Dwarfism Presenting With Acute Myocardial Infarction at Adolescence

Chung, Hyun Kee; Kim, Soo Yeon; Kang, Jeehoon; Yang, Sei Won; Kwon, Hye Won; Lee, Sang Yoon; Kim, Jun Seok; Bae, Eun Jung; Song, Mi Kyoung; Chae, Jong Hee

doi:10.1016/j.jaccas.2021.03.015

Cited by 2 publications

(5 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…PCNT is the most frequently mutated gene in patients with recessive MPDs. Since the first patients were identified [ 35 , 36 ], 139 individuals from 116 families carrying 115 different biallelic variants spread over the gene have been reported [ 66 , 130 , 131 , 132 , 133 , 134 , 135 , 136 , 137 , 138 , 139 , 140 , 141 , 142 , 143 , 144 , 145 , 146 , 147 , 148 , 149 , 150 , 151 , 152 , 153 ]. All variants had loss-of-function mutations (nonsense, frameshift, and splicing).…”

Section: Pcnt: the Major Microcephalic Primordial Dwarfism-causing Genementioning

confidence: 99%

“…For a mean age of 8.3 years, the reported patients showed deviations of −8.4 ± 2.2 SD and −8.3 ± 2.4 SD from the mean normal height and the mean normal OFC, respectively ( n = 89 and 81 measures for height and OFC, respectively). No significant difference was observed between height and OFC parameters ( t -test) [ 35 , 36 , 130 , 132 , 135 , 136 , 137 , 138 , 140 , 141 , 142 , 143 , 144 , 145 , 146 , 149 , 150 , 151 , 155 ]. The weight of these patients was less affected than height and OFC (−6.4 ± 3 SD, p < 0.0001, one-way analysis of variance).…”

Section: Pcnt: the Major Microcephalic Primordial Dwarfism-causing Genementioning

confidence: 99%

“…This progressive arteriopathy is associated with developing compensatory capillary collaterals (smoke-like vessels) named moyamoya disease. Strokes or aneurysmal subarachnoid hemorrhages affected 51% of the reported patients who underwent brain MRI (28 out of 55) [ 35 , 130 , 131 , 135 , 135 , 138 , 139 , 140 , 141 , 142 , 143 , 144 , 148 , 151 ] and occurred early (median: 4.2 years old, range: 0.5–26 years). Moyamoya disease was reported in 13 out of 55 patients who underwent brain MRI [ 35 , 130 , 135 , 138 , 140 , 144 , 151 , 152 ].…”

Section: Pcnt: the Major Microcephalic Primordial Dwarfism-causing Genementioning

confidence: 99%

“…Strokes or aneurysmal subarachnoid hemorrhages affected 51% of the reported patients who underwent brain MRI (28 out of 55) [ 35 , 130 , 131 , 135 , 135 , 138 , 139 , 140 , 141 , 142 , 143 , 144 , 148 , 151 ] and occurred early (median: 4.2 years old, range: 0.5–26 years). Moyamoya disease was reported in 13 out of 55 patients who underwent brain MRI [ 35 , 130 , 135 , 138 , 140 , 144 , 151 , 152 ]. These cerebral neurovascular anomalies worsen the functional prognosis and are a significant cause of death in patients.…”

Section: Pcnt: the Major Microcephalic Primordial Dwarfism-causing Genementioning

confidence: 99%

“…Heart attack with myocardial infarction caused by coronary artery disease has been reported in 3.2% of patients (4 of 123, diagnosed at 1, 15, 20, and 23 years of age) [ 141 , 151 ]. Insulin-resistant diabetes and dyslipidemia have been identified in almost all adult patients [ 150 ].…”

Section: Pcnt: the Major Microcephalic Primordial Dwarfism-causing Genementioning

confidence: 99%

See 4 more Smart Citations

Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size

Farcy,

Hachour,

Bahi-Buisson

et al. 2023

Cells

View full text Add to dashboard Cite

Primary microcephalies (PMs) are defects in brain growth that are detectable at or before birth and are responsible for neurodevelopmental disorders. Most are caused by biallelic or, more rarely, dominant mutations in one of the likely hundreds of genes encoding PM proteins, i.e., ubiquitous centrosome or microtubule-associated proteins required for the division of neural progenitor cells in the embryonic brain. Here, we provide an overview of the different types of PMs, i.e., isolated PMs with or without malformations of cortical development and PMs associated with short stature (microcephalic dwarfism) or sensorineural disorders. We present an overview of the genetic, developmental, neurological, and cognitive aspects characterizing the most representative PMs. The analysis of phenotypic similarities and differences among patients has led scientists to elucidate the roles of these PM proteins in humans. Phenotypic similarities indicate possible redundant functions of a few of these proteins, such as ASPM and WDR62, which play roles only in determining brain size and structure. However, the protein pericentrin (PCNT) is equally required for determining brain and body size. Other PM proteins perform both functions, albeit to different degrees. Finally, by comparing phenotypes, we considered the interrelationships among these proteins.

show abstract

Section: Pcnt: the Major Microcephalic Primordial Dwarfism-causing Genementioning

confidence: 99%

Section: Pcnt: the Major Microcephalic Primordial Dwarfism-causing Genementioning

confidence: 99%

Section: Pcnt: the Major Microcephalic Primordial Dwarfism-causing Genementioning

confidence: 99%

Section: Pcnt: the Major Microcephalic Primordial Dwarfism-causing Genementioning

confidence: 99%

Section: Pcnt: the Major Microcephalic Primordial Dwarfism-causing Genementioning

confidence: 99%

See 3 more Smart Citations

Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size

Farcy,

Hachour,

Bahi-Buisson

et al. 2023

Cells

View full text Add to dashboard Cite

show abstract

Myocardial infarction in a 17-year-old patient diagnosed with MPOD II syndrome

Clarac,

Karila-Cohen,

Bonnet

2024

Cardiol Young

View full text Add to dashboard Cite

Introduction: Microcephalic osteodysplastic primordial dwarfism (MOPD) syndrome type 2, caused by a mutation in the PCNT gene (21q22.3), is a rare autosomal recessive disorder. Patients present with bone dysplasia, insulin resistance, kidney diseases, and cardiac malformations, making them prone to vascular diseases. Cardiomyopathy, hypertension, and coronary diseases are documented. The prognosis is associated with cerebrovascular complications. Method: We report a case of a patient with MOPD type II who suffered a myocardial infarction in our institution. Informed consent for publishing was obtained. Result: A 17-year-old female with MPOD II syndrome (20 kg and 86 cm) was referred for chest pain. Thoracic pains had been occurring for over a month, increasing in intensity, with an episode prompting emergency consultation. Initial tests revealed elevated troponin and an inflammatory response. Electrocardiogram (ECG) showed ST-segment depression and elevation. Echocardiography revealed hypokinetic inferior walls with moderate concentric hypertrophy. A coronary CT scan showed subendocardial hypodensity. Diagnostic coronary angiography revealed tri-branch lesions and almost complete stenoses or occlusions on the circumflex artery (Image). No indication for interventional treatment due to diffuse atheromatous lesions. Exclusive medical treatment was initiated. Conclusion: MPOD II syndrome is associated with cardiac malformations and neurovascular complications, including myocardial infarction. Regular ECG monitoring is advisable. Active surveillance for coronary diseases is necessary from adolescence. Recognising this complication allows for prompt intervention. This case highlights the need for specific monitoring and prompt management of chest pain in patients with MPOD II syndrome. Primary prevention could mitigate the occurrence of coronary events in this high-risk population.

show abstract

Siblings With Familial Dwarfism Presenting With Acute Myocardial Infarction at Adolescence

Cited by 2 publications

References 8 publications

Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size

Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size

Myocardial infarction in a 17-year-old patient diagnosed with MPOD II syndrome

Contact Info

Product

Resources

About